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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCA1	19	broad.mit.edu	37	9	107618338	107618338	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:107618338C>G	ENST00000423487.2	-	8	1048	c.752G>C	c.(751-753)gGg>gCg	p.G251A	ABCA1_ENST00000374736.3_Intron			O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	0					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTTAACTGCCCATGTGCAAT	0.423000													21	33					0	0	0.234183	0	0
SEC22B	9554	broad.mit.edu	37	1	145115775	145115775	+	RNA	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:145115775G>C	ENST00000453618.1	+	0	861							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GTCTGTCCAAGAAATACCGCC	0.383000													15	109					0	0	0.146539	0	0
FAT3	120114	broad.mit.edu	37	11	92531578	92531578	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:92531578C>A	ENST00000298047.6	+	9	5416	c.5399C>A	c.(5398-5400)gCc>gAc	p.A1800D	FAT3_ENST00000409404.2_Missense_Mutation_p.A1800D|FAT3_ENST00000525166.1_Missense_Mutation_p.A1650D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1800	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1800D(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGATTCGAGCCACAGATGCT	0.473000										TCGA Ovarian(4;0.039)			14	14					1.3612e-06	1.46653e-06	0.132662	1	0
RYR2	6262	broad.mit.edu	37	1	237732601	237732601	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:237732601G>A	ENST00000366574.2	+	29	3897	c.3580G>A	c.(3580-3582)Gac>Aac	p.D1194N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1192N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1178N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1194	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D1192N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTTCAAGGACTTTGATGT	0.438000													13	32					0	0	0.093190	0	0
EMR1	2015	broad.mit.edu	37	19	6908779	6908779	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:6908779T>C	ENST00000312053.4	+	10	1155	c.1118T>C	c.(1117-1119)cTg>cCg	p.L373P	EMR1_ENST00000381407.5_Missense_Mutation_p.L232P|EMR1_ENST00000381404.4_Missense_Mutation_p.L321P|EMR1_ENST00000250572.8_Missense_Mutation_p.L373P|EMR1_ENST00000450315.3_Missense_Mutation_p.L196P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	373	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L373P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GTAGTTTCTCTGAAGGTAACG	0.408000													49	35					0	0	0.139131	0	0
CYLC2	1539	broad.mit.edu	37	9	105767808	105767808	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:105767808G>T	ENST00000374798.3	+	5	965	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.D299Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	299	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.D299Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				cgccacgaaagatgccaagaa	0.388000													4	4					0.000602214	0.000621087	0.184627	1	0
SEMA3G	56920	broad.mit.edu	37	3	52472194	52472194	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:52472194G>A	ENST00000231721.2	-	14	1530	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	511	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R511W(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACACCCAGCCGAGAGCCCACG	0.647000													7	1					0	0	0.132662	0	0
SLC52A3	113278	broad.mit.edu	37	20	746287	746287	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:746287G>A	ENST00000381944.3	-	2	373	c.132C>T	c.(130-132)ctC>ctT	p.L44L	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.L44L			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	44					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	p.L44L(1)									TGACCACCGTGAGGTAGGAGG	0.632000													8	18					0	0	0.047766	0	0
MYCBP2	23077	broad.mit.edu	37	13	77663032	77663032	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:77663032C>G	ENST00000407578.2	-	61	10926	c.10660G>C	c.(10660-10662)Gaa>Caa	p.E3554Q	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3516Q|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3516Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.E3554Q(1)|p.E3516Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAAGACCTTCTAGATCATGA	0.388000													32	51					0	0	0.163468	0	0
BRINP1	1620	broad.mit.edu	37	9	121929385	121929385	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:121929385G>T	ENST00000265922.3	-	8	2724	c.2263C>A	c.(2263-2265)Cag>Aag	p.Q755K	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		755					cell cycle arrest|cell death	cytoplasm	protein binding	p.Q755K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGTCATCTGGTCCGACTGT	0.478000													96	133					6.36747e-66	1.00073e-65	0.139131	1	0
FASTKD2	22868	broad.mit.edu	37	2	207652825	207652825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:207652825G>T	ENST00000236980.6	+	9	2107	c.1759G>T	c.(1759-1761)Gga>Tga	p.G587*	FASTKD2_ENST00000402774.3_Nonsense_Mutation_p.G587*|FASTKD2_ENST00000403094.3_Nonsense_Mutation_p.G587*	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	587					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.G587L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CAGCCTTCTGGGAGGTGAAGG	0.453000													16	21					6.72482e-11	7.80252e-11	0.132662	1	0
BAGE2	85319	broad.mit.edu	37	21	11038790	11038790	+	RNA	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:11038790C>A	ENST00000470054.1	-	0	1413									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACCCATGCCAGTTTTTTGG	0.413000													19	216					7.01153e-11	8.10919e-11	0.125774	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531911	140531911	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140531911G>C	ENST00000231136.1	+	1	2073	c.2073G>C	c.(2071-2073)gcG>gcC	p.A691A	PCDHB6_ENST00000543635.1_Silent_p.A555A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		691					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A691A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGGCGTTGGCCTCGG	0.687000													93	144					0	0	0.139131	0	0
HERC4	26091	broad.mit.edu	37	10	69793920	69793920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:69793920G>A	ENST00000395198.3	-	6	734	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	HERC4_ENST00000412272.2_Nonsense_Mutation_p.Q163*|HERC4_ENST00000373700.4_Nonsense_Mutation_p.Q163*|HERC4_ENST00000395187.2_Silent_p.D109D|HERC4_ENST00000277817.6_Nonsense_Mutation_p.Q53*	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	163					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.Q163*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TATTTATTCTGTCCCCAACAG	0.348000													22	45					0	0	0.091800	0	0
SCN5A	6331	broad.mit.edu	37	3	38622670	38622670	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:38622670C>A	ENST00000413689.1	-	17	3173	c.2980G>T	c.(2980-2982)Gcc>Tcc	p.A994S	SCN5A_ENST00000423572.2_Missense_Mutation_p.A994S|SCN5A_ENST00000455624.2_Missense_Mutation_p.A994S|SCN5A_ENST00000425664.1_Missense_Mutation_p.A994S|SCN5A_ENST00000414099.2_Missense_Mutation_p.A994S|SCN5A_ENST00000451551.2_Missense_Mutation_p.A994S|SCN5A_ENST00000333535.4_Missense_Mutation_p.A994S|SCN5A_ENST00000450102.2_Missense_Mutation_p.A994S|SCN5A_ENST00000449557.2_Missense_Mutation_p.A994S|SCN5A_ENST00000443581.1_Missense_Mutation_p.A994S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	994					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.A994S(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGCAAGGGCTGCGGGCTTC	0.692000													5	1					0.0215528	0.0217936	0.217242	1	0
MTUS2	23281	broad.mit.edu	37	13	29855914	29855914	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:29855914C>T	ENST00000431530.3	+	4	2806	c.2748C>T	c.(2746-2748)gcC>gcT	p.A916A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	906	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.A916A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAAGGGGGCCGGCCGGGTGG	0.562000													27	2					0	0	0.099896	0	0
FEZF1	389549	broad.mit.edu	37	7	121942184	121942184	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:121942184G>T	ENST00000442488.2	-	4	1362	c.1295C>A	c.(1294-1296)aCg>aAg	p.T432K	FEZF1_ENST00000427185.2_Missense_Mutation_p.T382K|FEZF1_ENST00000331178.4_Missense_Mutation_p.T428K	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	432					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T428K(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCCAGCTGGCGTGCGGGCCAG	0.692000													7	42					1.50039e-11	1.75584e-11	0.234183	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15884920	15884920	+	RNA	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:15884920G>T	ENST00000587443.2	-	0	409					NR_033864.1													p.L48M(2)									TAGGGTTTCAGGATGTTGAAA	0.547000													12	21					1.3612e-06	1.46653e-06	0.132662	1	0
TENM3	55714	broad.mit.edu	37	4	183635384	183635384	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:183635384G>T	ENST00000511685.1	+	13	2489	c.2366G>T	c.(2365-2367)gGa>gTa	p.G789V	TENM3_ENST00000406950.2_Missense_Mutation_p.G789V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.G789V(1)									GACAATGAAGGAGGTAAGAAA	0.458000													8	12					1.12685e-05	1.19625e-05	0.047766	1	0
IL18RAP	8807	broad.mit.edu	37	2	103057795	103057795	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:103057795G>T	ENST00000264260.2	+	7	1343	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	IL18RAP_ENST00000409369.1_Missense_Mutation_p.D110Y	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	252	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.D252Y(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACTCAAACCAGATATTCTGGA	0.458000													34	51					1.36161e-19	1.74996e-19	0.203993	1	0
STX16	8675	broad.mit.edu	37	20	57242651	57242651	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:57242651G>A	ENST00000371141.4	+	3	974	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	STX16_ENST00000371132.4_Missense_Mutation_p.E63K|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.E84K|STX16_ENST00000358029.4_Missense_Mutation_p.E80K|STX16_ENST00000359617.4_Missense_Mutation_p.E31K|STX16_ENST00000361770.5_Missense_Mutation_p.E67K|STX16_ENST00000355957.5_Missense_Mutation_p.E67K|STX16_ENST00000361830.3_Missense_Mutation_p.E84K	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	84					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	p.E63K(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGGAGTGGATGAAGTAAGTTC	0.403000													12	47					0	0	0.119110	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526625	106526625	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:106526625A>G	ENST00000359195.3	+	10	3228	c.2918A>G	c.(2917-2919)aAa>aGa	p.K973R	PIK3CG_ENST00000496166.1_Missense_Mutation_p.K973R|PIK3CG_ENST00000440650.2_Missense_Mutation_p.K973R	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	973	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.K973R(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGGAATTACAAAAGTTTCCTG	0.413000													25	44					0	0	0.163468	0	0
WDR35	57539	broad.mit.edu	37	2	20113375	20113375	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:20113375C>A	ENST00000345530.3	-	28	3605	c.3490G>T	c.(3490-3492)Gct>Tct	p.A1164S	WDR35_ENST00000281405.4_Missense_Mutation_p.A1153S|WDR35_ENST00000416055.2_Missense_Mutation_p.L556F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1164								p.A1164S(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTCCTGAGCAAGGACACCG	0.428000													57	81					2.44813e-32	3.50286e-32	0.139131	1	0
TAF2	6873	broad.mit.edu	37	8	120803609	120803609	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:120803609C>A	ENST00000378164.2	-	11	1666	c.1368G>T	c.(1366-1368)gtG>gtT	p.V456V		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	456					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.V456V(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAATCTCATCACAAGGTGGG	0.333000													22	41					1.96895e-08	2.18414e-08	0.076483	1	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857921	149857921	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:149857921G>T	ENST00000369155.2	-	1	311	c.270C>A	c.(268-270)atC>atA	p.I90I		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	90					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.I90I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGCGGGATGTGATGGTGGAGC	0.647000													48	59					1.19451e-25	1.62358e-25	0.139131	1	0
CRH	1392	broad.mit.edu	37	8	67089174	67089174	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:67089174A>T	ENST00000276571.3	-	2	985	c.539T>A	c.(538-540)tTa>tAa	p.L180*		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	180					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	p.L180*(1)		breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TTGCTGTGCTAACTGCTCGGC	0.507000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	54					0	0	0.124865	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489417	20489417	+	RNA	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:20489417C>T	ENST00000555186.1	+	0	405					NR_038836.1																						GCACAGGACTCAAGTGTCACT	0.423000													5	108					0	0	0.184627	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833623	43833623	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:43833623C>T	ENST00000319294.6	+	5	689	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	UBASH3A_ENST00000291535.6_Intron|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	220						cytosol|nucleus		p.L220F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCACTACATCCTTCAAAAATG	0.463000													8	12					0	0	0.175082	0	0
NAALADL2	254827	broad.mit.edu	37	3	175293949	175293949	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:175293949G>C	ENST00000454872.1	+	10	1902	c.1774G>C	c.(1774-1776)Gct>Cct	p.A592P	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	592					proteolysis	integral to membrane	peptidase activity	p.A592P(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CGTGCAGTTTGCTTACGAGGA	0.398000													110	242					0	0	0.139131	0	0
FAM135B	51059	broad.mit.edu	37	8	139164698	139164698	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:139164698C>G	ENST00000395297.1	-	13	2190	c.2020G>C	c.(2020-2022)Ggg>Cgg	p.G674R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	674								p.G674R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGATGACCCCGGATAGCACT	0.517000										HNSCC(54;0.14)			41	84					0	0	0.117977	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913640	158913640	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:158913640G>C	ENST00000368140.1	+	6	1308	c.1063G>C	c.(1063-1065)Gta>Cta	p.V355L	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.V346L|PYHIN1_ENST00000368138.3_Missense_Mutation_p.V346L|PYHIN1_ENST00000392254.2_Missense_Mutation_p.V355L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	355	HIN-200.				cell cycle	nuclear speck		p.V355L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAGTATGGCTGTAGTAGGAAA	0.353000													41	36					0	0	0.246493	0	0
ATP10B	23120	broad.mit.edu	37	5	160031019	160031019	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:160031019G>T	ENST00000327245.5	-	20	4036	c.3190C>A	c.(3190-3192)Caa>Aaa	p.Q1064K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1064					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	p.Q1064K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAGCAGCTTGAATCATGCTT	0.403000													55	98					1.31171e-36	1.91983e-36	0.139131	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182821	140182821	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140182821C>G	ENST00000522353.2	+	1	2039	c.2039C>G	c.(2038-2040)tCc>tGc	p.S680C	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S680C	NM_018906.2	NP_061729.1												p.S680C(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCTCGTCCCAGGCGTCC	0.647000													27	36					0	0	0.134883	0	0
OR5H6	79295	broad.mit.edu	37	3	97983473	97983473	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:97983473A>T	ENST00000383696.2	+	1	386	c.345A>T	c.(343-345)gtA>gtT	p.V115V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V115V(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AATGCATGGTACAATTTTTTT	0.393000													27	63					0	0	0.134883	0	0
SPATA16	83893	broad.mit.edu	37	3	172835341	172835341	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:172835341C>G	ENST00000351008.3	-	2	364	c.181G>C	c.(181-183)Gaa>Caa	p.E61Q		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	61					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.E61Q(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTGTTCTTTCAAGTGTGATT	0.393000													77	621					0	0	0.139131	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719959	140719959	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140719959T>C	ENST00000394576.2	+	1	1421	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.V474A(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTCTCAGTGACGGCCCAT	0.547000													18	120					0	0	0.204396	0	0
DNAH11	8701	broad.mit.edu	37	7	21779201	21779201	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:21779201G>T	ENST00000328843.6	+	49	7876	c.7845G>T	c.(7843-7845)caG>caT	p.Q2615H	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q2608H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2615	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q2615H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGATAGACAGAAGGTGATGC	0.428000									Kartagener syndrome				31	32					4.02929e-09	4.52046e-09	0.153744	1	0
KIAA1841	84542	broad.mit.edu	37	2	61315512	61315512	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:61315512C>A	ENST00000402291.1	+	10	1238	c.997C>A	c.(997-999)Ctt>Att	p.L333I	KIAA1841_ENST00000356719.2_Missense_Mutation_p.L333I|KIAA1841_ENST00000295031.5_Missense_Mutation_p.L333I|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.L333I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	333								p.L333I(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GTGTAAGAAACTTTTAACAAA	0.303000													14	31					0.00244969	0.00250506	0.119110	1	0
EML5	161436	broad.mit.edu	37	14	89093342	89093342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:89093342G>T	ENST00000554922.1	-	35	4828	c.4580C>A	c.(4579-4581)gCa>gAa	p.A1527E	EML5_ENST00000380664.5_Missense_Mutation_p.A1519E|EML5_ENST00000352093.5_Missense_Mutation_p.A1481E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1519						cytoplasm|microtubule		p.A1527E(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCGGAATTCTGCCACAAAAAT	0.423000													50	74					2.78941e-39	4.12711e-39	0.139131	1	0
LMAN2	10960	broad.mit.edu	37	5	176765534	176765534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:176765534C>A	ENST00000303127.7	-	3	592	c.388G>T	c.(388-390)Gga>Tga	p.G130*	LMAN2_ENST00000515209.1_Nonsense_Mutation_p.G130*|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	130	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	p.G130*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCCGTCTCCATGGAGGTTC	0.632000													137	185					1.41179e-77	2.22526e-77	0.139131	1	0
C9	735	broad.mit.edu	37	5	39288979	39288979	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:39288979G>A	ENST00000263408.4	-	10	1586	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	497	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.A497A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGTCTTCAATGGCTCTTTCCA	0.358000													14	69					0	0	0.119110	0	0
OR5A2	219981	broad.mit.edu	37	11	59190327	59190327	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:59190327C>G	ENST00000302040.4	-	1	122	c.100G>C	c.(100-102)Ggg>Cgg	p.G34R		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G34R(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTAGAGCCCCAGAAATAAC	0.443000													51	57					0	0	0.139131	0	0
KCNAB3	9196	broad.mit.edu	37	17	7830684	7830684	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:7830684C>A	ENST00000303790.2	-	4	381	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	128						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TACACTTCGGCGGTGTCAAAC	0.502000													52	49					5.09e-60	7.94216e-60	0.139131	1	0
PET112	5188	broad.mit.edu	37	4	152640682	152640682	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:152640682G>C	ENST00000263985.6	-	3	376	c.336C>G	c.(334-336)aaC>aaG	p.N112K	PET112_ENST00000515812.1_Missense_Mutation_p.N112K|PET112_ENST00000512306.1_Missense_Mutation_p.N112K	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	112						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	p.N112K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACACCTCCTGTTGAGAACCT	0.498000													15	27					0	0	0.076483	0	0
KIAA1109	84162	broad.mit.edu	37	4	123175388	123175388	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:123175388A>G	ENST00000264501.4	+	38	6334	c.5961A>G	c.(5959-5961)ctA>ctG	p.L1987L	KIAA1109_ENST00000455637.1_Silent_p.L1987L|KIAA1109_ENST00000388738.3_Silent_p.L1987L			Q2LD37	K1109_HUMAN	KIAA1109	1987					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.L1987L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAAGATCTACCTCTGATGC	0.378000													24	55					0	0	0.083992	0	0
EVI2A	2123	broad.mit.edu	37	17	29645376	29645376	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:29645376C>G	ENST00000247270.3	-	3	1061	c.725G>C	c.(724-726)aGg>aCg	p.R242T	EVI2A_ENST00000462804.2_Missense_Mutation_p.R219T|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.K158N|EVI2A_ENST00000461237.1_Missense_Mutation_p.R219T	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	219						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.R242T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTTCTTTCCCTTGTAGCTGT	0.413000													16	33					0	0	0.160694	0	0
FKBP7	51661	broad.mit.edu	37	2	179343127	179343127	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179343127C>T	ENST00000424785.2	-	1	158	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	FKBP7_ENST00000434643.2_Missense_Mutation_p.E34K|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	34					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.E34K(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATTTTCACTTCTTCGGTGCTC	0.408000													92	141					0	0	0.139131	0	0
OR2F1	26211	broad.mit.edu	37	7	143657783	143657783	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:143657783G>T	ENST00000392899.1	+	1	757	c.720G>T	c.(718-720)acG>acT	p.T240T		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T240T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTTTCCACACGTGTGCCTCTC	0.502000													45	71					1.63429e-32	2.34147e-32	0.139131	1	0
SLC22A2	6582	broad.mit.edu	37	6	160679775	160679775	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:160679775C>A	ENST00000366953.3	-	1	273	c.15G>T	c.(13-15)gtG>gtT	p.V5V	SLC22A2_ENST00000366952.1_Intron|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	5					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.V5V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGACATCGTCCACGGTGGTGG	0.617000													16	19					5.35267e-07	5.82465e-07	0.189662	1	0
LAMA1	284217	broad.mit.edu	37	18	7009334	7009334	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:7009334T>A	ENST00000389658.3	-	27	3998	c.3905A>T	c.(3904-3906)gAa>gTa	p.E1302V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1302	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.E1302V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACAGGTTTTTCAGAAACAGA	0.383000													96	17					0	0	0.139131	0	0
OR2L13	284521	broad.mit.edu	37	1	248263048	248263048	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248263048C>A	ENST00000366478.2	+	3	708	c.371C>A	c.(370-372)gCc>gAc	p.A124D	OR2L13_ENST00000358120.2_Missense_Mutation_p.A124D	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.A124D(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CGTTATTTGGCCATCTGCCAC	0.498000													138	103					4.38736e-65	6.88537e-65	0.139131	1	0
PEG3	5178	broad.mit.edu	37	19	57325536	57325536	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:57325536G>C	ENST00000326441.9	-	10	4637	c.4274C>G	c.(4273-4275)cCa>cGa	p.P1425R	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1301R|PEG3_ENST00000593695.1_Missense_Mutation_p.P1299R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1425R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1425	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1425*(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTCCATCTGGCCCTTCAGC	0.602000													22	6					0	0	0.144211	0	0
CD163	9332	broad.mit.edu	37	12	7636212	7636212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:7636212C>A	ENST00000359156.4	-	12	3041	c.2839G>T	c.(2839-2841)Gga>Tga	p.G947*	CD163_ENST00000432237.2_Nonsense_Mutation_p.G947*|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Nonsense_Mutation_p.G935*|CD163_ENST00000396620.3_Nonsense_Mutation_p.G980*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	947	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G947*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGGAACCTCCATGCCAGATC	0.478000													12	43					0.00010058	0.000104727	0.093190	1	0
COL4A3	1285	broad.mit.edu	37	2	228173983	228173983	+	Silent	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:228173983T>C	ENST00000396578.3	+	50	4866	c.4704T>C	c.(4702-4704)ccT>ccC	p.P1568P	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1568	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.P1568P(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGACATTCCTCCATGTCCTC	0.468000													24	23					0	0	0.173368	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650780	43650780	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:43650780A>T	ENST00000374466.3	+	2	518	c.183A>T	c.(181-183)ctA>ctT	p.L61L	CSGALNACT2_ENST00000374464.1_Silent_p.L61L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	61					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L61L(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGCCCTCCTACAGGAACAAG	0.433000													29	29					0	0	0.153744	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337153	115337153	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:115337153G>A	ENST00000337530.6	+	2	1089	c.793G>A	c.(793-795)Gac>Aac	p.D265N	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D265N|KIAA1958_ENST00000374244.3_Missense_Mutation_p.D265N	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	265								p.D265N(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CACGGAGCTAGACCCACACGG	0.547000													127	180					0	0	0.139131	0	0
PXDNL	137902	broad.mit.edu	37	8	52469407	52469407	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:52469407C>G	ENST00000356297.4	-	4	473	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.E125Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	125					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.E125Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TACAGATGTTCCAAAGATATG	0.274000													4	14					0	0	0.150653	0	0
COL3A1	1281	broad.mit.edu	37	2	189872840	189872840	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:189872840G>A	ENST00000304636.3	+	47	3667	c.3497G>A	c.(3496-3498)cGa>cAa	p.R1166Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R863Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1166	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R1166Q(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGGGCCTCGAGGTAACAGA	0.458000													12	12					0	0	0.105934	0	0
TTN	7273	broad.mit.edu	37	2	179431317	179431317	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179431317A>G	ENST00000589042.1	-	326	79766	c.79542T>C	c.(79540-79542)gaT>gaC	p.D26514D	TTN_ENST00000460472.2_Silent_p.D17449D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D24873D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D17574D|TTN_ENST00000342992.6_Silent_p.D23946D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.D17641D|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24873	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D17574D(1)|p.D23946D(1)|p.D17449D(1)|p.D23944D(1)|p.D17641D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGCCGCCATCATAGATGG	0.453000													129	194					0	0	0.139131	0	0
IL9R	3581	broad.mit.edu	37	X	155232673	155232673	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:155232673G>T	ENST00000424344.3	+	3	435	c.68G>T	c.(67-69)gGg>gTg	p.G23V	IL9R_ENST00000369423.2_Missense_Mutation_p.G91V|IL9R_ENST00000244174.5_Missense_Mutation_p.G44V|IL9R_ENST00000540897.1_Missense_Mutation_p.G81V			Q01113	IL9R_HUMAN	interleukin 9 receptor	44					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.G44V(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTGTCACAGGGGAAGGACAA	0.587000													81	147					2.68325e-40	3.99179e-40	0.139131	1	0
MS4A15	219995	broad.mit.edu	37	11	60543111	60543111	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:60543111G>T	ENST00000405633.3	+	7	725	c.646G>T	c.(646-648)Gac>Tac	p.D216Y	MS4A15_ENST00000337911.4_Missense_Mutation_p.D123Y|MS4A15_ENST00000528170.1_Missense_Mutation_p.D175Y	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	216						integral to membrane	receptor activity	p.D123Y(1)|p.D216Y(1)		breast(1)|large_intestine(2)|lung(3)	6						CTTCAGCGCAGACTTCAACAT	0.582000											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	101	159					7.22319e-40	1.07164e-39	0.139131	1	0
DNAH17	8632	broad.mit.edu	37	17	76522807	76522807	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:76522807C>G	ENST00000389840.5	-	24	3761	c.3637G>C	c.(3637-3639)Gag>Cag	p.E1213Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1210Q					dynein, axonemal, heavy chain 17									p.E1210Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCTGAACTCATGTTGCTTG	0.597000													27	17					0	0	0.116897	0	0
PRELID2	153768	broad.mit.edu	37	5	145202688	145202688	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:145202688G>T	ENST00000334744.4	-	2	137	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	PRELID2_ENST00000394450.2_5'UTR|PRELID2_ENST00000511435.1_Missense_Mutation_p.P29T|PRELID2_ENST00000505416.1_Missense_Mutation_p.P29T|PRELID2_ENST00000358004.2_Missense_Mutation_p.P29T	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	29	PRELI/MSF1.							p.P29T(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATCCATGGGGTTGGGGTAC	0.318000													4	23					1.23904e-05	1.31278e-05	0.184627	1	0
ZBTB22	9278	broad.mit.edu	37	6	33282996	33282996	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:33282996C>A	ENST00000431845.2	-	2	1849	c.1698G>T	c.(1696-1698)cgG>cgT	p.R566R	ZBTB22_ENST00000418724.1_Silent_p.R566R	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R566R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCAGGCGGTGCCGGCGCTCAC	0.682000													28	40					1.22384e-17	1.54725e-17	0.173368	1	0
ESYT2	57488	broad.mit.edu	37	7	158540942	158540942	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:158540942C>A	ENST00000251527.5	-	15	1733	c.1668G>T	c.(1666-1668)tgG>tgT	p.W556C		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	584	C2 2.					integral to membrane|plasma membrane		p.W556C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AGTTTTCCTCCCACACAGGTT	0.333000													84	12					2.16659e-41	3.24093e-41	0.139131	1	0
FBXW7	55294	broad.mit.edu	37	4	153303398	153303398	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:153303398C>G	ENST00000296555.5	-	1	269	c.90G>C	c.(88-90)gtG>gtC	p.V30V	FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603841.1_Intron	NM_001013415.1	NP_001013433.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.V30V(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATATCTTCATCACAGTTTGAT	0.383000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								17	44					0	0	0.160694	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793479	49793479	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:49793479G>T	ENST00000335875.4	-	12	2353	c.2112C>A	c.(2110-2112)ccC>ccA	p.P704P	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	704						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.P704P(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGTGACTTAGGGGTAGGGATG	0.473000													84	38					2.46087e-49	3.743e-49	0.139131	1	0
SCN2A	6326	broad.mit.edu	37	2	166183487	166183487	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:166183487C>A	ENST00000357398.3	+	13	2432	c.2142C>A	c.(2140-2142)acC>acA	p.T714T	SCN2A_ENST00000375427.2_Silent_p.T714T|SCN2A_ENST00000375437.2_Silent_p.T714T|SCN2A_ENST00000283256.6_Silent_p.T714T			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	714					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T714T(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGACCAACACCATGGAAGGTA	0.368000													6	115					0.0381472	0.0383947	0.038147	1	0
PTPRU	10076	broad.mit.edu	37	1	29606079	29606079	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:29606079C>T	ENST00000356870.3	+	10	1785	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	PTPRU_ENST00000460170.2_Missense_Mutation_p.P559S|PTPRU_ENST00000428026.2_Missense_Mutation_p.P559S|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.P559S|PTPRU_ENST00000345512.3_Missense_Mutation_p.P559S|PTPRU_ENST00000323874.8_Missense_Mutation_p.P559S	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	559	Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.P559S(6)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAACCTGCACCCAGGCACCAC	0.602000													94	143					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9047974	9047974	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:9047974G>T	ENST00000397910.4	-	5	33860	c.33657C>A	c.(33655-33657)acC>acA	p.T11219T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11221	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T11219T(1)|p.T6852T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAACGCACTGGTCTCTGACC	0.473000													12	20					2.68362e-12	3.1782e-12	0.093190	1	0
FLT4	2324	broad.mit.edu	37	5	180048182	180048182	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:180048182C>A	ENST00000261937.6	-	14	2169	c.2091G>T	c.(2089-2091)atG>atT	p.M697I	FLT4_ENST00000393347.3_Missense_Mutation_p.M697I|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.M697I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	697	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.M697I(2)|p.M507I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAAGCACTGCATCTCCAGCG	0.642000													36	30					4.00102e-26	5.45183e-26	0.235728	1	0
CAPN9	10753	broad.mit.edu	37	1	230883330	230883330	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:230883330G>C	ENST00000354537.1	+	1	170	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	CAPN9_ENST00000366666.2_Missense_Mutation_p.E30Q|CAPN9_ENST00000271971.2_Missense_Mutation_p.E30Q|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	30					digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.E30Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CCAGAGCTTTGAGCAAATGAG	0.617000													33	176					0	0	0.246493	0	0
BBX	56987	broad.mit.edu	37	3	107491895	107491895	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:107491895G>A	ENST00000415149.2	+	11	1654	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	BBX_ENST00000406780.1_Missense_Mutation_p.A443T|BBX_ENST00000402543.1_Missense_Mutation_p.A443T|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.A443T	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A443T(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGATCCCGCAGCATTAAACAA	0.368000													55	120					0	0	0.139131	0	0
CD44	960	broad.mit.edu	37	11	35211479	35211479	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:35211479G>A	ENST00000263398.6	+	5	968	c.534G>A	c.(532-534)gtG>gtA	p.V178V	CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Silent_p.V178V|CD44_ENST00000434472.2_Silent_p.V178V|CD44_ENST00000449691.2_Silent_p.V178V|CD44_ENST00000360158.4_Silent_p.V178V|CD44_ENST00000433892.2_Silent_p.V178V|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Silent_p.V178V|CD44_ENST00000437706.2_Silent_p.V178V|CD44_ENST00000428726.2_Silent_p.V178V|CD44_ENST00000415148.2_Silent_p.V178V	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	178					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	p.V178V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ATGATGACGTGAGCAGCGGCT	0.502000													17	18					0	0	0.091800	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552120	178552120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:178552120G>T	ENST00000251582.7	-	19	2913	c.2812C>A	c.(2812-2814)Cgc>Agc	p.R938S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	938	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R938S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCACGGAGCGCACCTGCATG	0.687000													53	104					1.03172e-35	1.50598e-35	0.139131	1	0
NBAS	51594	broad.mit.edu	37	2	15555687	15555687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:15555687G>A	ENST00000281513.5	-	25	2945	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	974								p.Q974*(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTGGAATGCTGAAATATCTTC	0.343000													18	38					0	0	0.069288	0	0
CHD1L	9557	broad.mit.edu	37	1	146758078	146758078	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:146758078G>T	ENST00000369258.4	+	18	2142	c.2122G>T	c.(2122-2124)Gat>Tat	p.D708Y	CHD1L_ENST00000431239.1_Missense_Mutation_p.D614Y|CHD1L_ENST00000361293.5_Missense_Mutation_p.D427Y|CHD1L_ENST00000369259.3_Missense_Mutation_p.D504Y|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	708	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.D708Y(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGCTGAGCTGGATTACCAAGA	0.567000													64	102					1.1362e-29	1.59833e-29	0.139131	1	0
SLC24A3	57419	broad.mit.edu	37	20	19665898	19665898	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:19665898A>T	ENST00000328041.6	+	12	1414	c.1217A>T	c.(1216-1218)gAg>gTg	p.E406V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	406						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.E406V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTGTGGCTGAGGCTGGCAAC	0.527000													27	32					0	0	0.183431	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722599	122722599	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:122722599C>G	ENST00000379663.3	+	1	125	c.20C>G	c.(19-21)tCa>tGa	p.S7*	EXOSC9_ENST00000243498.5_Nonsense_Mutation_p.S7*|EXOSC9_ENST00000509980.1_3'UTR	NM_001034194.1	NP_001029366.1	Q06265	EXOS9_HUMAN	exosome component 9	7	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.S7*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						ACGCCACTCTCAAACTGCGAA	0.612000													7	121					0	0	0.047766	0	0
OR52E4	390081	broad.mit.edu	37	11	5905755	5905755	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:5905755C>T	ENST00000316987.2	+	1	255	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S78F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCCACATCCACTATCCCC	0.438000													48	54					0	0	0.139131	0	0
C2orf42	54980	broad.mit.edu	37	2	70408798	70408798	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:70408798A>G	ENST00000264434.2	-	3	699	c.320T>C	c.(319-321)aTc>aCc	p.I107T	C2orf42_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Missense_Mutation_p.I107T	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	107								p.I107T(1)		endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CAGCTGAGTGATGATCGTCCC	0.557000													29	40					0	0	0.173368	0	0
LIG4	3981	broad.mit.edu	37	13	108862284	108862284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:108862284C>A	ENST00000356922.4	-	2	1605	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.E445*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.E445*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	445					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.E445*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACCACCCTTCACCTCTTTTG	0.378000								Non-homologous end-joining					241	428					4.60529e-113	7.32261e-113	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9067439	9067439	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:9067439G>C	ENST00000397910.4	-	3	20210	c.20007C>G	c.(20005-20007)atC>atG	p.I6669M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6671	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I6669M(2)|p.I2302M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGATACGATGGGGTCCT	0.512000													63	110					0	0	0.139131	0	0
MYO16	23026	broad.mit.edu	37	13	109535456	109535456	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:109535456C>A	ENST00000356711.2	+	13	1535	c.1409C>A	c.(1408-1410)cCt>cAt	p.P470H	MYO16_ENST00000357550.2_Missense_Mutation_p.P470H|MYO16_ENST00000251041.5_Missense_Mutation_p.P470H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	470	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P470H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCCTCGCTGCCTCCTCACCTC	0.562000													186	366					7.8419e-94	1.23783e-93	0.139131	1	0
F12	2161	broad.mit.edu	37	5	176831231	176831231	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:176831231C>T	ENST00000253496.3	-	9	1032	c.984G>A	c.(982-984)acG>acA	p.T328T		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	328	Pro-rich.		T -> K (in HAE3).|T -> R (in HAE3).		Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	p.T328T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTCCGGGTCGTGGGCTGAG	0.731000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	0.029380	0	0
ZWINT	11130	broad.mit.edu	37	10	58120979	58120979	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:58120979C>T	ENST00000373944.3	-	1	57	c.19G>A	c.(19-21)Gag>Aag	p.E7K	ZWINT_ENST00000361148.6_Missense_Mutation_p.E7K|ZWINT_ENST00000395405.1_Missense_Mutation_p.E7K			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	7					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	p.E7K(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCTTCCGCCTCTGTCTCCGCT	0.597000													6	4					0	0	0.058154	0	0
MAP2K6	5608	broad.mit.edu	37	17	67513012	67513012	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:67513012G>T	ENST00000590474.1	+	3	387	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	34					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D34Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TCGAGATTTAGACTCCAAGGC	0.373000													102	111					1.22879e-52	1.8875e-52	0.139131	1	0
DTNA	1837	broad.mit.edu	37	18	32400876	32400876	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:32400876T>C	ENST00000283365.9	+	10	1349	c.998T>C	c.(997-999)aTc>aCc	p.I333T	DTNA_ENST00000269191.6_Missense_Mutation_p.I333T|DTNA_ENST00000399097.3_Missense_Mutation_p.I15T|DTNA_ENST00000348997.5_Missense_Mutation_p.I333T|DTNA_ENST00000554864.3_Missense_Mutation_p.I333T|DTNA_ENST00000444659.1_Missense_Mutation_p.I333T|DTNA_ENST00000399121.5_Missense_Mutation_p.I333T|DTNA_ENST00000269192.7_Missense_Mutation_p.I15T|DTNA_ENST00000315456.6_Missense_Mutation_p.I333T|DTNA_ENST00000597599.1_Missense_Mutation_p.I333T|DTNA_ENST00000598774.1_Missense_Mutation_p.I333T|DTNA_ENST00000269190.7_Missense_Mutation_p.I333T|DTNA_ENST00000591182.1_Missense_Mutation_p.I15T|DTNA_ENST00000556414.3_Missense_Mutation_p.I15T|DTNA_ENST00000599844.1_Missense_Mutation_p.I15T|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.I333T|DTNA_ENST00000598334.1_Missense_Mutation_p.I333T|DTNA_ENST00000601125.1_Missense_Mutation_p.I15T|DTNA_ENST00000595022.1_Missense_Mutation_p.I333T|DTNA_ENST00000597674.1_Missense_Mutation_p.I15T|DTNA_ENST00000598142.1_Missense_Mutation_p.I333T	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	333					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.I333T(5)|p.I15T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGCTCACATCGTGTGAGTA	0.493000													17	28					0	0	0.163468	0	0
ADCY9	115	broad.mit.edu	37	16	4164582	4164582	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:4164582G>A	ENST00000294016.3	-	2	1400	c.862C>T	c.(862-864)Cac>Tac	p.H288Y		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	288					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.H288Y(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATGCAGCCGTGGAGCAGCCCC	0.632000													29	41					0	0	0.225048	0	0
OR2L2	26246	broad.mit.edu	37	1	248201677	248201677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248201677G>T	ENST00000366479.2	+	1	204	c.108G>T	c.(106-108)atG>atT	p.M36I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M36I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCCTAATGGCTCTAATTG	0.383000													110	228					1.04275e-50	1.59496e-50	0.139131	1	0
C1orf173	127254	broad.mit.edu	37	1	75038355	75038355	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:75038355A>T	ENST00000326665.5	-	14	3257	c.3039T>A	c.(3037-3039)ccT>ccA	p.P1013P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1013	Glu-rich.							p.P1013P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTTCCTCAGGGCTGCCCT	0.522000													72	89					0	0	0.139131	0	0
TDO2	6999	broad.mit.edu	37	4	156831336	156831336	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:156831336G>T	ENST00000536354.2	+	6	655	c.591G>T	c.(589-591)caG>caT	p.Q197H		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	197					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.Q197H(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AATCTGAGCAGGAAAAGACAC	0.323000													33	57					6.53348e-20	8.41679e-20	0.193644	1	0
MSR1	4481	broad.mit.edu	37	8	15998538	15998538	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:15998538A>G	ENST00000381998.4	-	9	1115	c.1050T>C	c.(1048-1050)acT>acC	p.T350T	MSR1_ENST00000262101.5_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000536385.1_Silent_p.T124T|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Intron	NM_002445.3	NP_002436.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	0	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.T350T(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TAATATGATCAGTGAGTTGTA	0.393000													54	73					0	0	0.139131	0	0
NEK11	79858	broad.mit.edu	37	3	130852750	130852750	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:130852750G>A	ENST00000383366.4	+	7	890	c.597G>A	c.(595-597)atG>atA	p.M199I	NEK11_ENST00000507910.1_Missense_Mutation_p.M199I|NEK11_ENST00000510688.1_Missense_Mutation_p.M199I|NEK11_ENST00000508196.1_Missense_Mutation_p.M199I|NEK11_ENST00000511262.1_Missense_Mutation_p.M199I|NEK11_ENST00000356918.4_Missense_Mutation_p.M199I|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000412440.2_Missense_Mutation_p.M51I|NEK11_ENST00000429253.2_Missense_Mutation_p.M199I|NEK11_ENST00000510769.1_Missense_Mutation_p.M199I	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	199	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.M199I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CCCATTATATGAGTCCTGAGG	0.428000													48	101					0	0	0.139131	0	0
ACE	1636	broad.mit.edu	37	17	61557706	61557706	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:61557706G>T	ENST00000290866.4	+	5	688	c.664G>T	c.(664-666)Gac>Tac	p.D222Y	ACE_ENST00000538928.1_Missense_Mutation_p.D222Y|ACE_ENST00000428043.1_Missense_Mutation_p.D222Y|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	222	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.D222Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGCTTCACAGACACGGGGGC	0.617000													40	45					8.48111e-28	1.18083e-27	0.139131	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564507	176564507	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:176564507C>A	ENST00000367662.3	+	3	2931	c.1767C>A	c.(1765-1767)agC>agA	p.S589R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S589R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	589	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S589R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGAGCCCAGCAAGATTGGCA	0.602000													75	67					4.18771e-30	5.91399e-30	0.139131	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36147196	36147196	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:36147196C>G	ENST00000258840.6	-	22	3597	c.3207G>C	c.(3205-3207)gaG>gaC	p.E1069D	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1022D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1035D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.E1022D			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1022					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.E1022D(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGGAGCTTCTCGTCGAGCT	0.458000													41	53					0	0	0.139131	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906017	144906017	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:144906017G>T	ENST00000370490.1	+	1	6329	c.2074G>T	c.(2074-2076)Gtg>Ttg	p.V692L	SLITRK2_ENST00000428560.2_Missense_Mutation_p.V692L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V692L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V692L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V692L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	692						integral to membrane		p.V692L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCACCTGTGGGTCAGAT	0.473000													85	8					1.67174e-50	2.55347e-50	0.139131	1	0
FLG2	388698	broad.mit.edu	37	1	152329486	152329486	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:152329486C>G	ENST00000388718.5	-	3	848	c.776G>C	c.(775-777)aGa>aCa	p.R259T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	259	Ser-rich.						calcium ion binding|structural molecule activity	p.R259T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTTGTTCTCTAATTCTTGA	0.468000													25	212					0	0	0.099896	0	0
FBLN1	2192	broad.mit.edu	37	22	45944567	45944567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:45944567C>T	ENST00000348697.2	+	13	1663	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*	FBLN1_ENST00000402984.3_Nonsense_Mutation_p.Q544*|FBLN1_ENST00000340923.5_Nonsense_Mutation_p.Q506*|FBLN1_ENST00000327858.6_Nonsense_Mutation_p.Q506*|FBLN1_ENST00000262722.7_Nonsense_Mutation_p.Q506*|FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000442170.2_Nonsense_Mutation_p.Q506*			P23142	FBLN1_HUMAN	fibulin 1	506	EGF-like 8; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.Q506*(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGGAAGCTTCCAGTGCAGCTG	0.657000													17	23					0	0	0.083992	0	0
HTR1E	3354	broad.mit.edu	37	6	87725435	87725435	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:87725435T>C	ENST00000305344.4	+	2	1086	c.383T>C	c.(382-384)aTt>aCt	p.I128T	HTR1E_ENST00000369584.1_Missense_Mutation_p.I128T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	128					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.I128T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ACCAATGCTATTGAATACGCC	0.562000													43	68					0	0	0.139131	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085417	35085417	+	Missense_Mutation	SNP	C	C	A	rs138254432	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:35085417C>A	ENST00000601241.1	-	2	2152	c.52G>T	c.(52-54)Gtc>Ttc	p.V18F	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.V18F			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	18						extracellular region	binding	p.V18F(1)									CCCAGCTGGACGCTGCAGATC	0.607000													24	30					4.87955e-14	5.888e-14	0.108266	1	0
FGFBP1	9982	broad.mit.edu	37	4	15937648	15937648	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:15937648A>T	ENST00000382333.1	-	3	902	c.608T>A	c.(607-609)aTg>aAg	p.M203K	FGFBP1_ENST00000259988.2_Missense_Mutation_p.M203K	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	203	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	p.M203N(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CTGGTTTGCCATATCTGGGTC	0.552000													92	30					0	0	0.139131	0	0
PARP14	54625	broad.mit.edu	37	3	122419622	122419622	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:122419622A>G	ENST00000474629.2	+	6	2487	c.2221A>G	c.(2221-2223)Aaa>Gaa	p.K741E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.K741E(1)|p.K578E(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGTCTGTGTTAAAAGTGTCCA	0.418000													13	33					0	0	0.146539	0	0
ANKRA2	57763	broad.mit.edu	37	5	72851384	72851384	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:72851384C>T	ENST00000296785.3	-	5	1199	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	181						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	p.E181K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GTAAATCCTTCTTCATCCGTG	0.348000													40	56					0	0	0.111260	0	0
MYT1L	23040	broad.mit.edu	37	2	1926073	1926073	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:1926073G>T	ENST00000399161.2	-	10	2215	c.1468C>A	c.(1468-1470)Cca>Aca	p.P490T	MYT1L_ENST00000428368.2_Missense_Mutation_p.P490T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	490					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P490K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCATAGTATGGCTTTTTGACA	0.448000													30	52					3.62531e-18	4.59403e-18	0.203993	1	0
FAM149A	25854	broad.mit.edu	37	4	187077213	187077213	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:187077213G>T	ENST00000356371.5	+	7	1316	c.1316G>T	c.(1315-1317)gGa>gTa	p.G439V	FAM149A_ENST00000389354.5_Missense_Mutation_p.G148V|FAM149A_ENST00000502970.1_Missense_Mutation_p.G148V|FAM149A_ENST00000514153.1_Missense_Mutation_p.G148V|FAM149A_ENST00000227065.4_Missense_Mutation_p.G148V|FAM149A_ENST00000503432.1_Missense_Mutation_p.G148V|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	439								p.G148V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGCAAACTCGGACTTCCTCCT	0.453000													49	80					1.32667e-27	1.83537e-27	0.139131	1	0
COL4A1	1282	broad.mit.edu	37	13	110813651	110813651	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:110813651C>A	ENST00000375820.4	-	49	4649	c.4528G>T	c.(4528-4530)Gtg>Ttg	p.V1510L	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1510	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.V1510L(1)|p.V1153L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGTTGCACACGTTGTTAATA	0.517000													45	87					1.72184e-34	2.48659e-34	0.139131	1	0
NEFH	4744	broad.mit.edu	37	22	29879485	29879485	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:29879485G>C	ENST00000310624.6	+	2	1038	c.1005G>C	c.(1003-1005)ctG>ctC	p.L335L		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	335	Coil 2B.|Rod.				cell death|nervous system development	neurofilament		p.L335L(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGGAGGCACTGAAAAGCACCA	0.612000													56	159					0	0	0.139131	0	0
ITGAD	3681	broad.mit.edu	37	16	31421741	31421741	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:31421741G>A	ENST00000389202.2	+	11	1158	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	370					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G370E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCTGTGGGGAGCTTTAGC	0.562000													54	99					0	0	0.139131	0	0
TOM1L2	146691	broad.mit.edu	37	17	17764829	17764829	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:17764829A>G	ENST00000581396.1	-	11	1185	c.1089T>C	c.(1087-1089)ctT>ctC	p.L363L	TOM1L2_ENST00000379504.3_Silent_p.L413L|TOM1L2_ENST00000318094.10_Silent_p.L368L|TOM1L2_ENST00000535933.1_Silent_p.L360L|TOM1L2_ENST00000395739.4_Silent_p.L368L|TOM1L2_ENST00000540946.1_Silent_p.L315L|TOM1L2_ENST00000478943.1_Silent_p.L146L|TOM1L2_ENST00000542206.1_Silent_p.L265L	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	413					intracellular protein transport	intracellular		p.L413L(1)|p.L363L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GTGCAGAAGCAAGTCCTCCGA	0.502000													23	14					0	0	0.134883	0	0
NALCN	259232	broad.mit.edu	37	13	101712240	101712240	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:101712240G>A	ENST00000251127.6	-	42	4916	c.4835C>T	c.(4834-4836)cCc>cTc	p.P1612L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1612						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.P1612L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCGATGCTGGGCGGGTTCAG	0.562000													75	174					0	0	0.139131	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68797731	68797731	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:68797731C>G	ENST00000508048.1	-	4	332	c.297G>C	c.(295-297)aaG>aaC	p.K99N	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.K103N|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.K100N			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	103	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.K103N(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CTACTTGGTTCTTGATATAAT	0.358000													20	44					0	0	0.234183	0	0
C17orf51	339263	broad.mit.edu	37	17	21477578	21477578	+	RNA	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:21477578C>A	ENST00000536958.2	-	0	203																											gtttcctcatcctggtcggcc	0.677000													8	23					4.68919e-08	5.18053e-08	0.069234	1	0
GLI4	2738	broad.mit.edu	37	8	144358399	144358399	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:144358399G>C	ENST00000340042.1	+	4	641	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	GLI4_ENST00000523522.1_Missense_Mutation_p.E186Q|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	186						nucleus	DNA binding|zinc ion binding	p.E186Q(1)		endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACAGGTGCGAGGCCTGCGG	0.706000													7	4					0	0	0.047766	0	0
PDZD2	23037	broad.mit.edu	37	5	31799670	31799670	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:31799670G>C	ENST00000438447.1	+	2	703	c.315G>C	c.(313-315)aaG>aaC	p.K105N	PDZD2_ENST00000282493.3_Missense_Mutation_p.K105N			O15018	PDZD2_HUMAN	PDZ domain containing 2	105	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.K105N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGCAAGAAGAGGAAAACCC	0.587000													63	92					0	0	0.139131	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885768	88885768	+	Silent	SNP	C	C	G	rs146041051	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:88885768C>G	ENST00000319675.3	-	1	528	c.432G>C	c.(430-432)ctG>ctC	p.L144L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	144								p.L144L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCACGAAGCACAGCAGAAGGT	0.552000													42	52					0	0	0.111260	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616150	13616150	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:13616150C>G	ENST00000040738.5	-	4	979	c.844G>C	c.(844-846)Gac>Cac	p.D282H		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	282							DNA binding	p.D282H(1)									CAGGGGAGGTCGCTGAACTCT	0.398000													22	5					0	0	0.091800	0	0
NRG1	3084	broad.mit.edu	37	8	32620796	32620796	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:32620796C>A	ENST00000521670.1	+	12	1437	c.1329C>A	c.(1327-1329)atC>atA	p.I443I	NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.I443I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCATGCAGATCCAGCTATCAG	0.378000													78	125					5.04879e-28	7.04754e-28	0.139131	1	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													4	222					0	0	0.184627	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377246	125377246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:125377246C>A	ENST00000297913.2	+	1	299	c.230C>A	c.(229-231)aCg>aAg	p.T77K	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T77K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACCTCCACCACGGTCCCCAAG	0.483000													110	162					3.11409e-38	4.57632e-38	0.139131	1	0
NOS1	4842	broad.mit.edu	37	12	117657886	117657886	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:117657886C>A	ENST00000317775.6	-	27	4849	c.4164G>T	c.(4162-4164)cgG>cgT	p.R1388R	NOS1_ENST00000338101.4_Silent_p.R1422R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1388					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1388R(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCACCCTCATCCGGCTGATGA	0.572000													72	88					1.69816e-31	2.41704e-31	0.139131	1	0
LRP4	4038	broad.mit.edu	37	11	46896534	46896534	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:46896534T>C	ENST00000378623.1	-	28	4288	c.4046A>G	c.(4045-4047)gAt>gGt	p.D1349G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1349					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.D1349G(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGGAGAGGGATCACAGGTCTT	0.602000													27	54					0	0	0.108266	0	0
TTN	7273	broad.mit.edu	37	2	179606578	179606578	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179606578T>C	ENST00000589042.1	-	48	11606	c.11382A>G	c.(11380-11382)atA>atG	p.I3794M	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I3431M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I3477M|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I3556M|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.I3623M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3477							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I3556M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTTCATTTATTTTAGATA	0.358000													10	10					0	0	0.093190	0	0
SAMHD1	25939	broad.mit.edu	37	20	35521455	35521455	+	Silent	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:35521455T>G	ENST00000262878.4	-	16	1960	c.1761A>C	c.(1759-1761)atA>atC	p.I587I	TLDC2_ENST00000217320.3_3'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	587					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.I587I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGAGTGGGGCTATAACATCGC	0.433000													67	65					0	0	0.139131	0	0
COL9A1	1297	broad.mit.edu	37	6	70926640	70926640	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:70926640T>G	ENST00000357250.6	-	38	2884	c.2726A>C	c.(2725-2727)cAg>cCg	p.Q909P	COL9A1_ENST00000370499.4_Missense_Mutation_p.Q666P|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.Q666P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	909	Nonhelical region (NC1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.Q666P(1)|p.Q909P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGACCAGCCTGCATGGTGCA	0.627000													21	46					0	0	0.091800	0	0
OPTC	26254	broad.mit.edu	37	1	203472096	203472096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:203472096C>A	ENST00000367222.2	+	6	903	c.787C>A	c.(787-789)Ccg>Acg	p.P263T		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	263						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.P263T(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGATTCTATCCCGGGGCCTTT	0.547000													50	41					4.88506e-25	6.59847e-25	0.139131	1	0
KLHL40	131377	broad.mit.edu	37	3	42727898	42727898	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:42727898G>T	ENST00000287777.4	+	1	888	c.788G>T	c.(787-789)gGc>gTc	p.G263V		NM_152393.2	NP_689606.2			kelch-like family member 40									p.G263V(1)									GCACACGAGGGCCGCATCACC	0.627000													32	8					8.73648e-17	1.0893e-16	0.203993	1	0
SLC35F1	222553	broad.mit.edu	37	6	118475757	118475757	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:118475757A>G	ENST00000360388.4	+	2	524	c.323A>G	c.(322-324)tAt>tGt	p.Y108C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	108					transport	integral to membrane		p.Y108C(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTCTTGGTCTATACCACCACA	0.418000													58	79					0	0	0.139131	0	0
DNAI2	64446	broad.mit.edu	37	17	72285814	72285814	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:72285814C>A	ENST00000579490.1	+	4	855	c.720C>A	c.(718-720)tcC>tcA	p.S240S	DNAI2_ENST00000311014.6_Silent_p.S183S|DNAI2_ENST00000446837.2_Silent_p.S183S|DNAI2_ENST00000582036.1_Silent_p.S183S|DNAI2_ENST00000307504.5_Silent_p.S40S			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	183					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.S183S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGCATACTCCTGCTTGGATT	0.612000									Kartagener syndrome				59	91					4.09106e-26	5.56754e-26	0.139131	1	0
ISLR2	57611	broad.mit.edu	37	15	74425680	74425680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:74425680G>T	ENST00000361742.3	+	4	1354	c.585G>T	c.(583-585)tgG>tgT	p.W195C	ISLR2_ENST00000453268.2_Missense_Mutation_p.W195C|ISLR2_ENST00000445793.1_Missense_Mutation_p.W195C|ISLR2_ENST00000419208.1_Missense_Mutation_p.W195C|ISLR2_ENST00000565540.1_Missense_Mutation_p.W195C|ISLR2_ENST00000435464.1_Missense_Mutation_p.W195C|ISLR2_ENST00000565159.1_Missense_Mutation_p.W195C|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	195	LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.W195C(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCAGGCCTGGGCCGCGAGCA	0.687000													68	91					1.63007e-36	2.38258e-36	0.139131	1	0
CACNA1E	777	broad.mit.edu	37	1	181745256	181745256	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:181745256C>A	ENST00000526775.1	+	37	5267	c.5102C>A	c.(5101-5103)gCc>gAc	p.A1701D	CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1652D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1720D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1327D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1671D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1701D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1720D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1720					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1720D(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGTTTGTGGCCGTCATCATG	0.547000													138	342					8.20597e-53	1.26228e-52	0.139131	1	0
AP5M1	55745	broad.mit.edu	37	14	57736068	57736068	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:57736068A>T	ENST00000261558.3	+	1	442	c.36A>T	c.(34-36)gaA>gaT	p.E12D	AP5M1_ENST00000431972.2_Missense_Mutation_p.E12D	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	12					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		p.E12D(1)									TAAGCCACGAACCGGGAACTC	0.493000													38	79					0	0	0.124865	0	0
DISP2	85455	broad.mit.edu	37	15	40659748	40659748	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:40659748G>A	ENST00000267889.3	+	8	1522	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	479	SSD.				smoothened signaling pathway	integral to membrane		p.E479K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTCAAGCAGGAGCTGCTGAG	0.612000													61	91					0	0	0.139131	0	0
SLIT3	6586	broad.mit.edu	37	5	168310299	168310299	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:168310299C>T	ENST00000519560.1	-	5	875	c.456G>A	c.(454-456)gcG>gcA	p.A152A	SLIT3_ENST00000332966.8_Silent_p.A152A|SLIT3_ENST00000404867.3_Silent_p.A152A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	152					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A152A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCGCGGAACGCCTTCCTCG	0.498000													31	53					0	0	0.183431	0	0
ANKRD17	26057	broad.mit.edu	37	4	74043232	74043232	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:74043232C>A	ENST00000358602.4	-	2	528	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D138Y|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D25Y	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	138					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.D138Y(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCATCCTGATCCAAAATGAAA	0.418000													18	36					1.15919e-05	1.22937e-05	0.204396	1	0
AZU1	566	broad.mit.edu	37	19	830715	830715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:830715G>T	ENST00000233997.2	+	4	389	c.368G>T	c.(367-369)cGt>cTt	p.R123L		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	123	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	p.R123L(2)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGGACCGTGAGGCCAAC	0.647000													22	18					2.39556e-15	2.94964e-15	0.076483	1	0
PPM1K	152926	broad.mit.edu	37	4	89192290	89192290	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:89192290C>A	ENST00000315194.4	-	4	982	c.593G>T	c.(592-594)tGc>tTc	p.C198F	PPM1K_ENST00000506423.1_Missense_Mutation_p.C198F|PPM1K_ENST00000295908.6_Intron|PPM1K_ENST00000513546.2_Intron			Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	0	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TGAAGCCCCGCATATAGTGTC	0.512000													9	11					1.76689e-08	1.96201e-08	0.058154	1	0
CDC16	8881	broad.mit.edu	37	13	115002123	115002123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:115002123C>T	ENST00000360383.3	+	2	250	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Nonsense_Mutation_p.Q18*|CDC16_ENST00000356221.3_Nonsense_Mutation_p.Q18*|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375312.3_5'UTR	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	p.Q18*(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TATGCAGCAACAGTATCAAAG	0.294000													94	86					0	0	0.139131	0	0
NLRP3	114548	broad.mit.edu	37	1	247582246	247582246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:247582246C>A	ENST00000366497.2	+	2	930	c.150C>A	c.(148-150)gaC>gaA	p.D50E	NLRP3_ENST00000336119.3_Missense_Mutation_p.D50E|NLRP3_ENST00000348069.2_Missense_Mutation_p.D50E|NLRP3_ENST00000391827.2_Missense_Mutation_p.D50E|NLRP3_ENST00000366496.2_Missense_Mutation_p.D50E|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.D50E	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	50	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.D50E(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAAGGCAGACCATGTGGATC	0.542000													42	24					1.47197e-15	1.81861e-15	0.098360	1	0
RAG1	5896	broad.mit.edu	37	11	36595976	36595976	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:36595976C>G	ENST00000299440.5	+	2	1234	c.1122C>G	c.(1120-1122)caC>caG	p.H374Q		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	374					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.H374Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AATATAATCACCACATCTCAA	0.458000									Familial Hemophagocytic Lymphohistiocytosis				40	51					0	0	0.124865	0	0
TSIX	9383	broad.mit.edu	37	X	73047154	73047154	+	RNA	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:73047154G>T	ENST00000604411.1	+	0	35115				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCCACATATGCAAAGAAATA	0.448000													38	6					1.04594e-18	1.33634e-18	0.235728	1	0
RALGAPB	57148	broad.mit.edu	37	20	37146248	37146248	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:37146248G>A	ENST00000262879.6	+	8	1435	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	RALGAPB_ENST00000537204.1_Missense_Mutation_p.R384Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R162Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R384Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R384Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	384					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.R384Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCACATAACCGGAGGCACCGG	0.473000													17	111					0	0	0.189662	0	0
SAYSD1	55776	broad.mit.edu	37	6	39082790	39082790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:39082790G>A	ENST00000229903.4	-	1	175	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	SAYSD1_ENST00000481599.1_5'UTR	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	26	Ala-rich.					integral to membrane		p.Q26*(1)									TGTGCGCCCTGACTGGCAGCA	0.672000													16	34					0	0	0.204396	0	0
STOM	2040	broad.mit.edu	37	9	124103597	124103597	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:124103597G>T	ENST00000286713.2	-	7	767	c.750C>A	c.(748-750)ctC>ctA	p.L250L	STOM_ENST00000347359.2_Silent_p.L85L|STOM_ENST00000538954.1_Silent_p.L199L	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	250					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	p.L250L(1)		endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GCAGGTATCGGAGCTGAAGGG	0.493000													86	146					3.16549e-35	4.59588e-35	0.139131	1	0
CFAP54	144535	broad.mit.edu	37	12	97087505	97087505	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:97087505G>T	ENST00000524981.3	+	12	1623	c.1623G>T	c.(1621-1623)ctG>ctT	p.L541L				Q6ZTY8	CL063_HUMAN		515								p.L515L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATAGGTTCTGCCTCTCCTTG	0.284000													24	65					5.45727e-16	6.76552e-16	0.134883	1	0
CENPF	1063	broad.mit.edu	37	1	214825149	214825149	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214825149G>C	ENST00000366955.3	+	15	8248	c.8080G>C	c.(8080-8082)Gag>Cag	p.E2694Q	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2790	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E2694Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAAGTGAGAGAGGAAATAGC	0.418000													30	116					0	0	0.144211	0	0
ZNF215	7762	broad.mit.edu	37	11	6977119	6977119	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:6977119G>T	ENST00000278319.5	+	7	1499	c.911G>T	c.(910-912)aGt>aTt	p.S304I	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.S304I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	304					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S304I(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTTGAATGTAGTGAAAATAAG	0.338000													41	75					3.77016e-25	5.09887e-25	0.131918	1	0
LRP2	4036	broad.mit.edu	37	2	170002408	170002408	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:170002408G>A	ENST00000263816.3	-	70	13122	c.12837C>T	c.(12835-12837)atC>atT	p.I4279I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4279					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.I4279I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTCTTCAAAGATGTCCAGGC	0.413000													25	39					0	0	0.144211	0	0
AGTR1	185	broad.mit.edu	37	3	148459408	148459408	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:148459408G>T	ENST00000542281.1	+	4	1032	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	AGTR1_ENST00000349243.3_Missense_Mutation_p.G196C|AGTR1_ENST00000404754.2_Missense_Mutation_p.G196C|AGTR1_ENST00000474935.1_Missense_Mutation_p.G196C|AGTR1_ENST00000475347.1_Missense_Mutation_p.G196C|AGTR1_ENST00000402260.1_Missense_Mutation_p.G196C|AGTR1_ENST00000418473.2_Missense_Mutation_p.G196C|AGTR1_ENST00000461609.1_Missense_Mutation_p.G196C|AGTR1_ENST00000497524.1_Missense_Mutation_p.G196C	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	196					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.G196C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GATAGGGCTGGGCCTGACCAA	0.373000													66	69					1.05635e-38	1.55657e-38	0.139131	1	0
STRA8	346673	broad.mit.edu	37	7	134925343	134925343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:134925343C>T	ENST00000275764.3	+	2	133	c.133C>T	c.(133-135)Cag>Tag	p.Q45*		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	45					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.Q45*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGCACAGCTGCAGGAGCTTGA	0.547000													32	60					0	0	0.117977	0	0
PID1	55022	broad.mit.edu	37	2	229890756	229890756	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:229890756G>A	ENST00000392054.3	-	4	678	c.339C>T	c.(337-339)gtC>gtT	p.V113V	PID1_ENST00000354069.6_Silent_p.V115V|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.V82V|PID1_ENST00000409462.1_Silent_p.V33V	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	115	PID.					cytoplasm		p.V113V(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGAGCTCAATGACTGGCTTTT	0.537000													43	69					0	0	0.131918	0	0
MIR513B	100313822	broad.mit.edu	37	X	146280622	146280622	+	RNA	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:146280622C>A	ENST00000385136.2	-	0	23					NR_031708.1																						taaatgacacctccttgtgaa	0.428000													25	1					9.04412e-07	9.80231e-07	0.099896	1	0
PTGDR	5729	broad.mit.edu	37	14	52735298	52735298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:52735298C>T	ENST00000306051.2	+	1	868	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	PTGDR_ENST00000553372.1_Nonsense_Mutation_p.Q256*	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	256						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.Q256*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AGCGTCCCCTCAGCCCCTGGA	0.682000													88	108					0	0	0.139131	0	0
FBN3	84467	broad.mit.edu	37	19	8148210	8148210	+	Silent	SNP	C	C	T	rs138737465		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:8148210C>T	ENST00000600128.1	-	57	7548	c.7134G>A	c.(7132-7134)gaG>gaA	p.E2378E	FBN3_ENST00000270509.2_Silent_p.E2378E|FBN3_ENST00000601739.1_Silent_p.E2378E			Q75N90	FBN3_HUMAN	fibrillin 3	2378	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.E2378E(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGTTGATGCACTCCCCATGAG	0.602000													38	44					0	0	0.104719	0	0
DDX4	54514	broad.mit.edu	37	5	55056085	55056085	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:55056085G>T	ENST00000505374.1	+	4	277	c.185G>T	c.(184-186)gGg>gTg	p.G62V	DDX4_ENST00000354991.5_Missense_Mutation_p.G62V|DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.G62V|DDX4_ENST00000514278.2_Missense_Mutation_p.G62V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	62	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G62V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTGCCTCTGGGCGGAATTTT	0.363000													47	14					2.14255e-21	2.81016e-21	0.139131	1	0
C5orf22	55322	broad.mit.edu	37	5	31538419	31538419	+	Missense_Mutation	SNP	G	G	T	rs142150259		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:31538419G>T	ENST00000325366.9	+	4	557	c.430G>T	c.(430-432)Gac>Tac	p.D144Y	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	144								p.D144Y(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TGTACCTGAAGACCAGCTAGA	0.353000													42	85					3.61848e-18	4.59073e-18	0.098360	1	0
VPS13C	54832	broad.mit.edu	37	15	62209737	62209737	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:62209737C>T	ENST00000261517.5	-	60	7931	c.7858G>A	c.(7858-7860)Gaa>Aaa	p.E2620K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E2577K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2577K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2620K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2620					protein localization			p.E2620K(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATCTGACTTCCCTGCTCCTA	0.418000													13	58					0	0	0.132662	0	0
CBLL1	79872	broad.mit.edu	37	7	107398942	107398942	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:107398942A>G	ENST00000440859.2	+	6	1262	c.795A>G	c.(793-795)gcA>gcG	p.A265A	CBLL1_ENST00000222597.2_Silent_p.A264A|CBLL1_ENST00000415884.2_3'UTR	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	265	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.A265A(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTCCTCCAGCAGAATTGTCCA	0.478000													38	43					0	0	0.225048	0	0
TMC1	117531	broad.mit.edu	37	9	75366861	75366861	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:75366861A>G	ENST00000297784.5	+	11	1171	c.631A>G	c.(631-633)Atg>Gtg	p.M211V	TMC1_ENST00000396237.3_Missense_Mutation_p.M211V|TMC1_ENST00000340019.3_Missense_Mutation_p.M211V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	211					sensory perception of sound	integral to membrane		p.M211V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TAGCCTCATCATGTTGCCAGA	0.373000													64	85					0	0	0.139131	0	0
CELSR1	9620	broad.mit.edu	37	22	46785372	46785372	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:46785372T>C	ENST00000262738.3	-	18	6369	c.6370A>G	c.(6370-6372)Acg>Gcg	p.T2124A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2124					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.T2124A(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACCTGCGTCTCATTGCGG	0.617000													21	9					0	0	0.163468	0	0
RYR2	6262	broad.mit.edu	37	1	237982348	237982348	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:237982348C>A	ENST00000366574.2	+	101	14763	c.14446C>A	c.(14446-14448)Cac>Aac	p.H4816N	RYR2_ENST00000360064.6_Missense_Mutation_p.H4822N|RYR2_ENST00000542537.1_Missense_Mutation_p.H4800N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4816					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H4814N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATATGTTCCACATGTATGT	0.423000													43	34					2.37825e-27	3.2818e-27	0.117977	1	0
OR51V1	283111	broad.mit.edu	37	11	5221647	5221647	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:5221647C>A	ENST00000321255.1	-	1	283	c.284G>T	c.(283-285)tGg>tTg	p.W95L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W95L(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGATCCCCCACAGGATCCC	0.547000													29	29					1.57351e-24	2.11752e-24	0.193644	1	0
WSCD2	9671	broad.mit.edu	37	12	108618519	108618519	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:108618519G>T	ENST00000332082.4	+	6	1504	c.686G>T	c.(685-687)gGa>gTa	p.G229V	WSCD2_ENST00000261400.3_Missense_Mutation_p.G229V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G229V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G229V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	229						integral to membrane		p.G229V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCTTCAGATGGAAGTGCAGTG	0.522000													65	88					8.07507e-42	1.21126e-41	0.139131	1	0
CRYGC	1420	broad.mit.edu	37	2	208993022	208993022	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:208993022A>G	ENST00000282141.3	-	3	467	c.430T>C	c.(430-432)Tac>Cac	p.Y144H		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	144	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	p.Y144H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTCAGCAGGTATTGCCGCCCC	0.607000													46	59					0	0	0.139131	0	0
PARP14	54625	broad.mit.edu	37	3	122437240	122437240	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:122437240A>T	ENST00000474629.2	+	14	4508	c.4242A>T	c.(4240-4242)aaA>aaT	p.K1414N	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.K1251N(1)|p.K1414N(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTCCCCAAAAAAAGAATCATT	0.363000													46	115					0	0	0.124865	0	0
SMYD3	64754	broad.mit.edu	37	1	245912968	245912968	+	Splice_Site	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:245912968T>A	ENST00000490107.1	-	12	1225		c.e12-2		SMYD3_ENST00000388985.4_Splice_Site|SMYD3_ENST00000541742.1_Splice_Site|SMYD3_ENST00000366517.1_Splice_Site	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3							cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.?(2)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ATCAAAAGCCTAAAGAGAAAG	0.478000													24	39					0	0	0.076483	0	0
OPLAH	26873	broad.mit.edu	37	8	145113186	145113186	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:145113186T>C	ENST00000426825.1	-	7	986	c.905A>G	c.(904-906)tAc>tGc	p.Y302C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	302							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.Y302C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTCCTGCTGGTAGGTGGTGGC	0.706000													4	8					0	0	0.217242	0	0
OR4M2	390538	broad.mit.edu	37	15	22369125	22369125	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:22369125G>T	ENST00000332663.2	+	1	648	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V184F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATCACACAGGTTGTCCGGAT	0.473000													71	312					1.92282e-43	2.89623e-43	0.139131	1	0
EPHA5	2044	broad.mit.edu	37	4	66356361	66356361	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:66356361G>T	ENST00000273854.3	-	5	1736	c.1136C>A	c.(1135-1137)cCg>cAg	p.P379Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.P379Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.P379Q|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	379	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.P379Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTCAGCAGGCGGAATCCATTC	0.458000										TSP Lung(17;0.13)			7	32					0.0293803	0.0296259	0.029380	1	0
HAPLN1	1404	broad.mit.edu	37	5	82940463	82940463	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:82940463G>T	ENST00000274341.4	-	4	1344	c.494C>A	c.(493-495)cCa>cAa	p.P165Q		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	165	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.P165Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CCCCAGTCGTGGAAAGTAAGG	0.522000													14	20					2.31682e-05	2.43334e-05	0.132662	1	0
ERV3-1	2086	broad.mit.edu	37	7	64453245	64453245	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:64453245C>G	ENST00000394323.2	-	2	660	c.160G>C	c.(160-162)Gct>Cct	p.A54P		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		54						virion		p.A54P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						caggtcccagcacactcataa	0.507000													46	72					0	0	0.139131	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492110	103492110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:103492110C>T	ENST00000602836.1	+	9	1321	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	BIVM_ENST00000257336.1_Silent_p.F469F|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Silent_p.F247F	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.F469F(1)									GCCGGTCTTTCAGTGCTAGTT	0.473000													77	402					0	0	0.139131	0	0
HEATR1	55127	broad.mit.edu	37	1	236723047	236723047	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:236723047C>A	ENST00000366582.3	-	34	4851	c.4737G>T	c.(4735-4737)gcG>gcT	p.A1579A	HEATR1_ENST00000366581.2_Silent_p.A1498A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1579					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.A1579A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACTAAGGAGCGCGCGCCAGA	0.433000													116	68					2.08041e-53	3.20927e-53	0.139131	1	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557488	170557488	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:170557488A>G	ENST00000359744.3	+	4	395	c.7A>G	c.(7-9)Att>Gtt	p.I3V	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	3							metal ion binding|pyridoxal phosphatase activity	p.I3V(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						AACCATGAAAATTTTGCTAGT	0.308000													30	30					0	0	0.153744	0	0
TTC21B	79809	broad.mit.edu	37	2	166747500	166747500	+	Splice_Site	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:166747500T>A	ENST00000243344.7	-	23	3088		c.e23-2			NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B							cilium axoneme|cytoplasm|cytoskeleton	binding	p.?(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TATAATTATCTAGAAACAAAT	0.303000													10	16					0	0	0.080935	0	0
KCNAB1	7881	broad.mit.edu	37	3	156009858	156009858	+	Silent	SNP	G	G	T	rs138625130		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:156009858G>T	ENST00000302490.8	+	1	1033	c.162G>T	c.(160-162)acG>acT	p.T54T	KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	72						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.T54T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGACGTTCACGCCTCAGCATC	0.567000													24	46					3.28513e-13	3.92049e-13	0.091800	1	0
BBOX1	8424	broad.mit.edu	37	11	27078769	27078769	+	Missense_Mutation	SNP	G	G	A	rs147348000	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:27078769G>A	ENST00000263182.3	+	4	609	c.241G>A	c.(241-243)Gag>Aag	p.E81K	BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Missense_Mutation_p.E81K|BBOX1_ENST00000525090.1_Missense_Mutation_p.E81K|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.E81K	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	81					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.E81K(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ATGGCCCGATGAGCATTACAG	0.398000													12	108					0	0	0.080935	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959987	73959987	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:73959987G>T	ENST00000373468.1	-	3	5056	c.4405C>A	c.(4405-4407)Cga>Aga	p.R1469R	KIAA2022_ENST00000055682.5_Silent_p.R1469R			Q5QGS0	K2022_HUMAN	KIAA2022	1469					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.R1469R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACCTGTTCTCGCTCCATGTGC	0.468000													54	11					2.5401e-28	3.55483e-28	0.139131	1	0
CYP7A1	1581	broad.mit.edu	37	8	59409478	59409478	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:59409478T>C	ENST00000301645.3	-	3	730	c.593A>G	c.(592-594)cAg>cGg	p.Q198R		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	198					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.Q198R(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGTGCTTTCTGTGTGTCCCG	0.463000									Neonatal Giant Cell Hepatitis				46	84					0	0	0.131918	0	0
LPP	4026	broad.mit.edu	37	3	188327238	188327238	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:188327238C>G	ENST00000312675.4	+	6	965	c.719C>G	c.(718-720)tCa>tGa	p.S240*	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Nonsense_Mutation_p.S240*|LPP_ENST00000448637.1_Nonsense_Mutation_p.S240*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	240	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.S240*(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCCCCTTCATCAGGACAAATT	0.552000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								8	132					0	0	0.069234	0	0
ALDH9A1	223	broad.mit.edu	37	1	165651442	165651442	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:165651442T>C	ENST00000354775.4	-	4	798	c.494A>G	c.(493-495)tAt>tGt	p.Y165C	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.Y71C	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	141					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	p.Y165C(1)|p.Y141C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TCTTCTGGTATAACCAAACGA	0.502000													6	97					0	0	0.217242	0	0
EMR1	2015	broad.mit.edu	37	19	6908736	6908736	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:6908736G>T	ENST00000312053.4	+	10	1112	c.1075G>T	c.(1075-1077)Gtt>Ttt	p.V359F	EMR1_ENST00000381407.5_Missense_Mutation_p.V218F|EMR1_ENST00000381404.4_Missense_Mutation_p.V307F|EMR1_ENST00000250572.8_Missense_Mutation_p.V359F|EMR1_ENST00000450315.3_Missense_Mutation_p.V182F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	359	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V359F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CATCTTCAGCGTTCTGGACAA	0.383000													17	68					6.33239e-15	7.72693e-15	0.219247	1	0
SYK	6850	broad.mit.edu	37	9	93637067	93637067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:93637067G>T	ENST00000375754.4	+	9	1265	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	SYK_ENST00000375746.1_Nonsense_Mutation_p.E373*|SYK_ENST00000375747.1_Nonsense_Mutation_p.E350*|SYK_ENST00000375751.4_Nonsense_Mutation_p.E350*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	373	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	p.E373*(1)|p.E350*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCTGACGCTGGAAGACAAAGA	0.522000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								101	180					2.20344e-50	3.35615e-50	0.139131	1	0
OR4N5	390437	broad.mit.edu	37	14	20612581	20612581	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:20612581C>A	ENST00000333629.1	+	1	687	c.687C>A	c.(685-687)tcC>tcA	p.S229S		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S229S(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGGAGCACTCCTCTGAAGGAA	0.493000													65	86					1.12612e-26	1.54805e-26	0.139131	1	0
DIDO1	11083	broad.mit.edu	37	20	61511984	61511984	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:61511984C>G	ENST00000266070.4	-	16	5649	c.5324G>C	c.(5323-5325)aGg>aCg	p.R1775T	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1775T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1775	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R1775T(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCTGGCCCCCTTGGTCCCGG	0.632000													129	125					0	0	0.139131	0	0
NALCN	259232	broad.mit.edu	37	13	101833456	101833456	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:101833456T>C	ENST00000376196.3	-	15	2156	c.1997A>G	c.(1996-1998)aAt>aGt	p.N666S	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	0						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATCGAAGATTGTGAGACAA	0.493000													117	428					0	0	0.139131	0	0
OR5M11	219487	broad.mit.edu	37	11	56310201	56310201	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:56310201C>G	ENST00000528616.2	-	1	556	c.533G>C	c.(532-534)tGt>tCt	p.C178S		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179S(1)|p.C178S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CGGGTCAGCACAGTAGAAGTG	0.493000													11	10					0	0	0.105934	0	0
GPR123	84435	broad.mit.edu	37	10	134884455	134884455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:134884455C>A	ENST00000607359.1	+	1	23	c.23C>A	c.(22-24)tCg>tAg	p.S8*				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S8*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGGAACCACTCGCGGCTGAAA	0.642000													6	1					0.00198382	0.00203056	0.029380	1	0
TTN	7273	broad.mit.edu	37	2	179456358	179456358	+	Missense_Mutation	SNP	G	G	C	rs1560220		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179456358G>C	ENST00000589042.1	-	303	60412	c.60188C>G	c.(60187-60189)aCa>aGa	p.T20063R	TTN_ENST00000460472.2_Missense_Mutation_p.T10998R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T18422R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11123R|TTN_ENST00000342992.6_Missense_Mutation_p.T17495R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11190R|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18422	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T11190R(1)|p.T11123R(1)|p.T10998R(1)|p.T17493R(1)|p.T17495R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGGATAGTTGTGTCAGGGAG	0.348000													100	173					0	0	0.139131	0	0
TNIK	23043	broad.mit.edu	37	3	170928949	170928949	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:170928949C>A	ENST00000436636.2	-	4	606	c.262G>T	c.(262-264)Gct>Tct	p.A88S	TNIK_ENST00000369326.5_Missense_Mutation_p.A88S|TNIK_ENST00000284483.8_Missense_Mutation_p.A88S|TNIK_ENST00000538048.1_Missense_Mutation_p.A88S|TNIK_ENST00000470834.1_Missense_Mutation_p.A88S|TNIK_ENST00000460047.1_Missense_Mutation_p.A88S|TNIK_ENST00000488470.1_Missense_Mutation_p.A88S|TNIK_ENST00000357327.5_Missense_Mutation_p.A88S|TNIK_ENST00000475336.1_Missense_Mutation_p.A88S|TNIK_ENST00000341852.6_Missense_Mutation_p.A88S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	88	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A88S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTGATAAAAGCACCATAGTAT	0.348000													6	94					5.18039e-06	5.52643e-06	0.038147	1	0
FAP	2191	broad.mit.edu	37	2	163072468	163072468	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:163072468G>C	ENST00000188790.4	-	10	1013	c.806C>G	c.(805-807)aCc>aGc	p.T269S	FAP_ENST00000443424.1_Missense_Mutation_p.T244S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	269					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.T269S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AGGGTAAGTGGTATCGATAAT	0.408000													3	53					0	0	0.150653	0	0
UBE4B	10277	broad.mit.edu	37	1	10197141	10197141	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:10197141A>G	ENST00000377157.3	+	16	2567	c.1506A>G	c.(1504-1506)ccA>ccG	p.P502P	UBE4B_ENST00000343090.6_Silent_p.P747P|UBE4B_ENST00000253251.8_Silent_p.P618P	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	747					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.P747P(1)|p.P618P(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCAGCCTCCATTTTCTGAGC	0.428000													68	94					0	0	0.139131	0	0
PTPRM	5797	broad.mit.edu	37	18	7774262	7774262	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:7774262G>T	ENST00000332175.8	+	2	1226	c.189G>T	c.(187-189)atG>atT	p.M63I	PTPRM_ENST00000580170.1_Missense_Mutation_p.M63I|PTPRM_ENST00000400053.4_Start_Codon_SNP_p.M1I|PTPRM_ENST00000400060.4_Missense_Mutation_p.M63I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	63	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.M63I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATCCATGGATGCCATCAGGTT	0.393000													61	31					1.72039e-30	2.43591e-30	0.139131	1	0
PKD1L2	114780	broad.mit.edu	37	16	81198331	81198331	+	RNA	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:81198331G>C	ENST00000533478.1	-	0	1318				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.A403G(1)|p.A1088G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGAGTCTGCGGCATCAGGGCG	0.602000													50	59					0	0	0.139131	0	0
RIN3	79890	broad.mit.edu	37	14	93142837	93142837	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:93142837G>T	ENST00000216487.7	+	8	2512	c.2353G>T	c.(2353-2355)Gat>Tat	p.D785Y	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	785	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.D785Y(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTATGGGGCGGATGACTTCCT	0.582000													26	69					1.13719e-10	1.30825e-10	0.134883	1	0
RELN	5649	broad.mit.edu	37	7	103276759	103276759	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:103276759G>T	ENST00000424685.2	-	18	2385	c.2226C>A	c.(2224-2226)gcC>gcA	p.A742A	RELN_ENST00000343529.5_Silent_p.A742A|RELN_ENST00000428762.1_Silent_p.A742A			P78509	RELN_HUMAN	reelin	742					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A742A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTACCACTGGCCAAGACAC	0.468000													11	22					2.32078e-09	2.61449e-09	0.132662	1	0
F11	2160	broad.mit.edu	37	4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:187206814C>T	ENST00000264692.4	+	12	1504	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	F11_ENST00000403665.2_Missense_Mutation_p.R443C			P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358000													5	161					0	0	0.184627	0	0
GSTM2	2946	broad.mit.edu	37	1	110212186	110212186	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:110212186C>T	ENST00000369831.2	+	5	447	c.353C>T	c.(352-354)cCa>cTa	p.P118L	GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000241337.4_Missense_Mutation_p.P118L|GSTM2_ENST00000369827.3_Missense_Mutation_p.P116L|GSTM2_ENST00000460717.3_Missense_Mutation_p.P118L|GSTM2_ENST00000414179.2_Missense_Mutation_p.P14L|GSTM2_ENST00000442650.1_Missense_Mutation_p.P118L|GSTM2_ENST00000369829.2_Missense_Mutation_p.P118L					glutathione S-transferase mu 2 (muscle)									p.P118L(3)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGCTATGACCCAGATTTTGTA	0.522000													15	6					0	0	0.132662	0	0
PIGN	23556	broad.mit.edu	37	18	59739950	59739950	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:59739950G>A	ENST00000357637.5	-	30	3043	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	PIGN_ENST00000400334.3_Silent_p.F876F	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	876					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.F876F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGACCAAGAAGAAAAAATGCT	0.318000													4	4					0	0	0.184627	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786320	128786320	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:128786320C>A	ENST00000529694.1	+	3	1330	c.954C>A	c.(952-954)gcC>gcA	p.A318A	KCNJ5_ENST00000338350.4_Silent_p.A318A|KCNJ5_ENST00000533599.1_Silent_p.A318A	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	318					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.A318A(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCTGCCAAGCCCGGAGCTCCT	0.502000													61	45					3.63617e-18	4.60243e-18	0.139131	1	0
WDFY3	23001	broad.mit.edu	37	4	85701338	85701338	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:85701338C>A	ENST00000322366.6	-	26	4695	c.4288G>T	c.(4288-4290)Gca>Tca	p.A1430S	WDFY3_ENST00000295888.4_Missense_Mutation_p.A1430S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1430						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.A1430S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCTTGACTGCTGCATATAAC	0.512000													43	96					1.97e-11	2.29798e-11	0.117977	1	0
CHRNA6	8973	broad.mit.edu	37	8	42620311	42620311	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:42620311T>C	ENST00000276410.2	-	2	471	c.116A>G	c.(115-117)cAc>cGc	p.H39R	CHRNA6_ENST00000534622.1_Missense_Mutation_p.H39R|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	39						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.H39R(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACAGTTTGTGGAAGAGCCT	0.547000													87	104					0	0	0.139131	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937647	15937647	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:15937647C>A	ENST00000382333.1	-	3	903	c.609G>T	c.(607-609)atG>atT	p.M203I	FGFBP1_ENST00000259988.2_Missense_Mutation_p.M203I	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	203	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	p.M203N(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TCTGGTTTGCCATATCTGGGT	0.552000													92	30					1.07466e-44	1.6232e-44	0.139131	1	0
ATP2C1	27032	broad.mit.edu	37	3	130694302	130694302	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:130694302A>C	ENST00000510168.1	+	18	2090	c.1540A>C	c.(1540-1542)Aag>Cag	p.K514Q	ATP2C1_ENST00000505330.1_Missense_Mutation_p.K498Q|ATP2C1_ENST00000328560.8_Missense_Mutation_p.K514Q|ATP2C1_ENST00000504381.1_Missense_Mutation_p.K459Q|ATP2C1_ENST00000508532.1_Missense_Mutation_p.K514Q|ATP2C1_ENST00000504948.1_Missense_Mutation_p.K498Q|ATP2C1_ENST00000513801.1_Missense_Mutation_p.K498Q|ATP2C1_ENST00000533801.2_Missense_Mutation_p.K509Q|ATP2C1_ENST00000393221.4_Missense_Mutation_p.K548Q|ATP2C1_ENST00000507488.2_Missense_Mutation_p.K498Q|ATP2C1_ENST00000359644.3_Missense_Mutation_p.K514Q|ATP2C1_ENST00000422190.2_Missense_Mutation_p.K514Q|ATP2C1_ENST00000428331.2_Missense_Mutation_p.K514Q			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	514					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	p.K514Q(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CCAACAAGAGAAGGCACGCAT	0.468000									Hailey-Hailey disease				38	21					0	0	0.104719	0	0
RARS	5917	broad.mit.edu	37	5	167943903	167943903	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:167943903G>A	ENST00000231572.3	+	13	1627	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	RARS_ENST00000538719.1_Missense_Mutation_p.D319N	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	525					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	p.D525N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CAAAATGCTAGATGACAGAGG	0.403000													117	185					0	0	0.139131	0	0
MYT1L	23040	broad.mit.edu	37	2	1926072	1926072	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:1926072G>T	ENST00000399161.2	-	10	2216	c.1469C>A	c.(1468-1470)cCa>cAa	p.P490Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.P490Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	490					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P490K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCATAGTATGGCTTTTTGAC	0.448000													31	52					1.836e-18	2.33477e-18	0.193644	1	0
COL16A1	1307	broad.mit.edu	37	1	32167741	32167741	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:32167741G>A	ENST00000373672.3	-	2	570	c.54C>T	c.(52-54)ttC>ttT	p.F18F	COL16A1_ENST00000271069.6_Silent_p.F18F|COL16A1_ENST00000373668.3_Silent_p.F18F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	18					cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.F18F(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCCCATGGCCGAAGGTAGCCC	0.572000													34	38					0	0	0.214465	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873596	91873596	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:91873596G>T	ENST00000373094.1	+	7	4546	c.3701G>T	c.(3700-3702)aGc>aTc	p.S1234I	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1224I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1216I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1197I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1197I|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1226I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1234					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.S1234I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTCACCACAGCCCACCATCA	0.587000													144	18					5.4935e-104	8.6967e-104	0.139131	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	38					0	0	0.083992	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846756	47846756	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:47846756C>A	ENST00000339488.4	-	3	1857	c.1824G>T	c.(1822-1824)ttG>ttT	p.L608F		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	608						integral to membrane	hedgehog receptor activity	p.L608F(1)									CCACCAGATACAAGCGAGAAG	0.438000													34	63					1.836e-18	2.33477e-18	0.193644	1	0
MYH6	4624	broad.mit.edu	37	14	23872969	23872969	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:23872969G>A	ENST00000405093.3	-	9	824	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	MYH6_ENST00000356287.3_Missense_Mutation_p.H252Y	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	252	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I251>?(1)|p.H252Y(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCCCAAAGTGGATCCTAATG	0.582000													6	12					0	0	0.069234	0	0
HAVCR1	26762	broad.mit.edu	37	5	156476144	156476144	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:156476144G>A	ENST00000339252.3	-	4	1218	c.686C>T	c.(685-687)cCa>cTa	p.P229L	HAVCR1_ENST00000522693.1_Missense_Mutation_p.P229L|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P229L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P229L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P229L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	224					interspecies interaction between organisms	integral to membrane	receptor activity	p.P229L(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTGAAGATGGTGAAGTGGC	0.443000													57	108					0	0	0.139131	0	0
MSRA	4482	broad.mit.edu	37	8	10177494	10177494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:10177494C>T	ENST00000528246.1	+	6	963	c.340C>T	c.(340-342)Caa>Taa	p.Q114*	MSRA_ENST00000518255.1_Nonsense_Mutation_p.Q180*|MSRA_ENST00000441698.2_Nonsense_Mutation_p.Q140*|MSRA_ENST00000382490.5_Nonsense_Mutation_p.Q137*|MSRA_ENST00000317173.4_Nonsense_Mutation_p.Q180*	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	180					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	p.Q180*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AGAGAACTACCAAAAGGTAGG	0.562000													6	17					0	0	0.217242	0	0
OR2C3	81472	broad.mit.edu	37	1	247695456	247695456	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:247695456A>C	ENST00000366487.3	-	2	719	c.358T>G	c.(358-360)Tcc>Gcc	p.S120A	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S119A(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CGGTCATAGGACATGGTGGCC	0.567000													26	28					0	0	0.125774	0	0
FAM21C	253725	broad.mit.edu	37	10	46248088	46248088	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:46248088G>C	ENST00000336378.4	+	12	1174	c.1056G>C	c.(1054-1056)tcG>tcC	p.S352S	FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000374362.2_Silent_p.S352S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	352								p.S351S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGACTTCTCGCCATTTGGCT	0.532000													88	137					0	0	0.139131	0	0
LGSN	51557	broad.mit.edu	37	6	63990184	63990184	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:63990184A>T	ENST00000370657.4	-	4	1305	c.1272T>A	c.(1270-1272)gtT>gtA	p.V424V	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	424					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.V424V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AGCCGGCAGCAACAGTTGCAG	0.448000													56	56					0	0	0.139131	0	0
ORM1	5004	broad.mit.edu	37	9	117086000	117086000	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:117086000T>G	ENST00000259396.8	+	2	250	c.172T>G	c.(172-174)Tcg>Gcg	p.S58A	ORM1_ENST00000538816.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	58					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	p.S58A(1)		endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GTACAATAAGTCGGTTCAGGA	0.512000													17	89					0	0	0.204396	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033311	100033311	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:100033311G>T	ENST00000292330.2	-	3	721	c.531C>A	c.(529-531)gcC>gcA	p.A177A	RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_Intron	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	177								p.A177A(1)									CCCTGAGCGCGGCATTCAGAA	0.667000													5	12					0.0293803	0.0296259	0.029380	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750326	140750326	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140750326T>A	ENST00000576222.1	+	1	496	c.365T>A	c.(364-366)cTg>cAg	p.L122Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACTGTGCTGATCCAGGAT	0.448000													111	153					0	0	0.139131	0	0
CBL	867	broad.mit.edu	37	11	119144584	119144584	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:119144584A>T	ENST00000264033.4	+	4	973	c.597A>T	c.(595-597)atA>atT	p.I199I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	199	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.I199I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCAGGACAATAGTCCCTTGGA	0.493000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				18	42					0	0	0.189662	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915923	149915923	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:149915923C>A	ENST00000369135.3	-	12	2659	c.2365G>T	c.(2365-2367)Gct>Tct	p.A789S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	789					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.A789S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AGACCTCCAGCCCATCCATCT	0.547000													55	98					1.67886e-27	2.31964e-27	0.139131	1	0
TSG101	7251	broad.mit.edu	37	11	18541090	18541090	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:18541090G>C	ENST00000536719.1	-	2	237	c.103C>G	c.(103-105)Ctc>Gtc	p.L35V	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.L35V			Q99816	TS101_HUMAN	tumor susceptibility 101	35	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	p.L35V(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ACAGGTTTGAGATCTTTGTAT	0.294000													37	64					0	0	0.104719	0	0
FAT3	120114	broad.mit.edu	37	11	92616156	92616156	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:92616156G>T	ENST00000298047.6	+	23	12551	c.12534G>T	c.(12532-12534)aaG>aaT	p.K4178N	FAT3_ENST00000409404.2_Missense_Mutation_p.K4178N|FAT3_ENST00000525166.1_Missense_Mutation_p.K4028N|FAT3_ENST00000533797.1_Missense_Mutation_p.K513N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4178					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K4178N(2)|p.K753N(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCGCAAGAAGGTCTTCCGCA	0.582000										TCGA Ovarian(4;0.039)			10	16					3.07112e-06	3.27948e-06	0.080935	1	0
MTSS1	9788	broad.mit.edu	37	8	125603417	125603417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:125603417C>A	ENST00000518547.1	-	4	741	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	MTSS1_ENST00000378017.3_Nonsense_Mutation_p.E90*|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.E90*	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	90	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	p.E90*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCTTGGCTTCAATGCTTCTG	0.517000													32	24					6.50621e-10	7.38322e-10	0.173368	1	0
ZNF257	113835	broad.mit.edu	37	19	22271507	22271507	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:22271507G>A	ENST00000594947.1	+	4	1099	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E319K(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTACAAATGTGAAGAGTGTGG	0.423000													4	38					0	0	0.184627	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605913	77605913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:77605913G>T	ENST00000319374.4	-	2	371	c.169C>A	c.(169-171)Ctc>Atc	p.L57I	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	57						integral to membrane	acyltransferase activity|zinc ion binding	p.L57I(2)		kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		TTGGCCGAGAGGAATAGGAAG	0.687000											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0.000602214	0.000621087	0.184627	1	0
LRP1B	53353	broad.mit.edu	37	2	141459344	141459344	+	Missense_Mutation	SNP	C	C	A	rs147767913		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:141459344C>A	ENST00000389484.3	-	40	7344	c.6373G>T	c.(6373-6375)Ggc>Tgc	p.G2125C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2125					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2125C(1)|p.G2125S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTCCAAGGCCGGTTCTCATG	0.403000										TSP Lung(27;0.18)			31	50					4.74835e-14	5.74244e-14	0.153744	1	0
LPA	4018	broad.mit.edu	37	6	161027594	161027594	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:161027594C>T	ENST00000447678.1	-	18	2820	c.2700G>A	c.(2698-2700)ctG>ctA	p.L900L	LPA_ENST00000316300.5_Silent_p.L900L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3408	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.L900L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGCATTGTGTCAGGTTGCAGT	0.542000													40	114					0	0	0.117977	0	0
SIX3	6496	broad.mit.edu	37	2	45170024	45170024	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:45170024G>T	ENST00000260653.3	+	1	1123	c.781G>T	c.(781-783)Gac>Tac	p.D261Y		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	261					visual perception	nucleus		p.D261Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGGCAGCGCGACCGCGCCGC	0.677000													14	28					1.02788e-11	1.2081e-11	0.160694	1	0
TCEA3	6920	broad.mit.edu	37	1	23713895	23713895	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:23713895T>A	ENST00000450454.2	-	9	943	c.837A>T	c.(835-837)gaA>gaT	p.E279D		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	279	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	p.E279D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACTCCCTCAGTTCATCACTGG	0.557000													5	7					0	0	0.184627	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913661	158913661	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:158913661C>G	ENST00000368140.1	+	6	1329	c.1084C>G	c.(1084-1086)Cac>Gac	p.H362D	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.H353D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.H353D|PYHIN1_ENST00000392254.2_Missense_Mutation_p.H362D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	362	HIN-200.				cell cycle	nuclear speck		p.H362D(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGGAGAATGCCACAATATCCC	0.353000													36	28					0	0	0.235728	0	0
AFTPH	54812	broad.mit.edu	37	2	64794785	64794785	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:64794785G>A	ENST00000422803.1	+	3	2339	c.2025G>A	c.(2023-2025)ctG>ctA	p.L675L	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Silent_p.L675L|AFTPH_ENST00000238856.4_Silent_p.L675L|AFTPH_ENST00000409183.1_Silent_p.L306L|AFTPH_ENST00000238855.7_Silent_p.L675L			Q6ULP2	AFTIN_HUMAN	aftiphilin	675					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.L675L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTACTTCCCTGAAGCACTTGC	0.423000													76	107					0	0	0.139131	0	0
CLMN	79789	broad.mit.edu	37	14	95662857	95662857	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:95662857T>A	ENST00000298912.4	-	10	2799	c.2686A>T	c.(2686-2688)Agc>Tgc	p.S896C		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	896						integral to membrane	actin binding	p.S896C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGTAGTCGCTACTGTCTTCT	0.403000													47	74					0	0	0.139131	0	0
KIAA1468	57614	broad.mit.edu	37	18	59919955	59919955	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:59919955G>A	ENST00000256858.6	+	12	2040	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	KIAA1468_ENST00000398130.2_Missense_Mutation_p.E598K			Q9P260	K1468_HUMAN	KIAA1468	598							binding	p.E598K(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AACACGTGTAGAAGCTGAACT	0.373000													4	58					0	0	0.184627	0	0
GMPPA	29926	broad.mit.edu	37	2	220368852	220368852	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:220368852C>G	ENST00000358215.3	+	7	906	c.537C>G	c.(535-537)atC>atG	p.I179M	GMPPA_ENST00000341142.3_Missense_Mutation_p.I179M|GMPPA_ENST00000373908.1_Missense_Mutation_p.I179M|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.I179M|GMPPA_ENST00000313597.5_Missense_Mutation_p.I179M	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	179					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	p.I109M(1)|p.I179M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GTGACATCATCAACTGCGGCA	0.517000													77	186					0	0	0.139131	0	0
PURG	29942	broad.mit.edu	37	8	30890181	30890181	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:30890181G>C	ENST00000475541.1	-	1	1050	c.118C>G	c.(118-120)Ccc>Gcc	p.P40A	PURG_ENST00000339382.2_Missense_Mutation_p.P40A	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	40						nucleus	DNA binding	p.P40A(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCGTAGTGGGGGTAGTGGGAG	0.637000													5	11					0	0	0.217242	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35450184	35450184	+	RNA	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:35450184C>T	ENST00000430846.1	+	0	3034																											GTTTCATGTGCAGGAAGAAAG	0.393000													21	31					0	0	0.069288	0	0
PRR23A	729627	broad.mit.edu	37	3	138724871	138724871	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:138724871C>T	ENST00000383163.2	-	1	239	c.240G>A	c.(238-240)ctG>ctA	p.L80L	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	80								p.L80L(1)		endometrium(3)|kidney(1)|lung(7)	11						GCGGGAGCTCCAGCACCAGGT	0.677000													10	21					0	0	0.069234	0	0
IGSF1	3547	broad.mit.edu	37	X	130419770	130419770	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:130419770G>T	ENST00000370904.1	-	10	1233	c.323C>A	c.(322-324)cCc>cAc	p.P108H	IGSF1_ENST00000361420.3_Missense_Mutation_p.P117H|IGSF1_ENST00000370910.1_Missense_Mutation_p.P108H|IGSF1_ENST00000370900.1_Missense_Mutation_p.P117H|IGSF1_ENST00000370903.3_Missense_Mutation_p.P117H|IGSF1_ENST00000370901.4_Missense_Mutation_p.P117H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	117	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.P117H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AACTTTACTGGGCTTTGACCA	0.483000													51	76					1.86277e-20	2.41693e-20	0.139131	1	0
C17orf80	55028	broad.mit.edu	37	17	71228443	71228443	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:71228443C>A	ENST00000255557.4	+	0	72				FAM104A_ENST00000581110.1_Start_Codon_SNP_p.M1I|FAM104A_ENST00000583024.1_Start_Codon_SNP_p.M1I|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000405159.3_Start_Codon_SNP_p.M1I|FAM104A_ENST00000403627.3_Start_Codon_SNP_p.M1I			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80							integral to membrane		p.M1I(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CGCGCCCCCCCATGTCGCTGC	0.721000													6	17					2.80697e-09	3.15567e-09	0.080935	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119133386	119133386	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:119133386C>T	ENST00000264245.4	+	12	3142	c.2610C>T	c.(2608-2610)atC>atT	p.I870I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	870					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.I870I(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGGTTGAGATCGTCTCACAAG	0.507000													42	123					0	0	0.104719	0	0
CXCL12	6387	broad.mit.edu	37	10	44874113	44874113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:44874113G>A	ENST00000374429.2	-	3	324	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Nonsense_Mutation_p.Q80*|CXCL12_ENST00000343575.6_Nonsense_Mutation_p.Q80*|CXCL12_ENST00000395794.2_Nonsense_Mutation_p.Q80*|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395795.4_Nonsense_Mutation_p.Q80*	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	80					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.Q80*(3)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	AGGTACTCCTGAATCCACTTT	0.473000													23	122					0	0	0.091800	0	0
FASN	2194	broad.mit.edu	37	17	80039971	80039971	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:80039971C>T	ENST00000306749.2	-	36	6295	c.6077G>A	c.(6076-6078)cGt>cAt	p.R2026H	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2026	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.R2026H(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGCATTGCCACGCCCGCAGCT	0.632000													53	8					0	0	0.139131	0	0
FZD2	2535	broad.mit.edu	37	17	42635929	42635929	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:42635929G>T	ENST00000315323.3	+	1	1005	c.873G>T	c.(871-873)tcG>tcT	p.S291S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	291					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S291S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCATGGTGTCGGTGGCCTACA	0.607000													33	46					8.16277e-20	1.05033e-19	0.246493	1	0
OR10A6	390093	broad.mit.edu	37	11	7949817	7949817	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:7949817G>A	ENST00000309838.2	-	1	392	c.393C>T	c.(391-393)aaC>aaT	p.N131N		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N131N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCATTTGGTAGTTGAGAGGAT	0.358000													43	53					0	0	0.124865	0	0
BRCA2	675	broad.mit.edu	37	13	32914679	32914679	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:32914679G>A	ENST00000544455.1	+	11	6414	c.6187G>A	c.(6187-6189)Gga>Aga	p.G2063R	BRCA2_ENST00000380152.3_Missense_Mutation_p.G2063R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2063					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	p.G2063R(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		TACAGCAAGTGGAAAGCAAGT	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			43	11					0	0	0.104719	0	0
RB1	5925	broad.mit.edu	37	13	49033954	49033954	+	Missense_Mutation	SNP	C	C	G	rs3092903		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:49033954C>G	ENST00000267163.4	+	20	2229	c.2091C>G	c.(2089-2091)gaC>gaG	p.D697E		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	697	Domain B.|Pocket; binds T and E1A.		D -> E (in dbSNP:rs3092903).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.D697E(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATGAGAGACAGGCATTTGG	0.413000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			31	13					0	0	0.193644	0	0
HOXD9	3235	broad.mit.edu	37	2	176987735	176987735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:176987735C>A	ENST00000249499.6	+	1	648	c.239C>A	c.(238-240)tCc>tAc	p.S80Y	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	80						nucleus	sequence-specific DNA binding	p.S70Y(1)|p.S80Y(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCCTCGTGGTCCGCGGTGCCC	0.751000													5	7					0.00198382	0.00203056	0.029380	1	0
KIF25	3834	broad.mit.edu	37	6	168431482	168431482	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:168431482C>T	ENST00000443060.2	+	4	513	c.122C>T	c.(121-123)gCg>gTg	p.A41V	KIF25_ENST00000354419.2_Missense_Mutation_p.A41V|KIF25_ENST00000351261.3_Missense_Mutation_p.A41V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	41	Kinesin-motor.		A -> T (in dbSNP:rs34049091).		microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.A41V(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCTCAGAGCGCGGTCTTTGGA	0.423000													68	92					0	0	0.139131	0	0
FAM47A	158724	broad.mit.edu	37	X	34148385	34148385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:34148385G>A	ENST00000346193.3	-	1	2062	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	671								p.Q671*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TATTTTTCCTGTGAGAAGAAT	0.438000													114	15					0	0	0.139131	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675341	3675341	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:3675341G>A	ENST00000344754.4	-	11	2912	c.2913C>T	c.(2911-2913)agC>agT	p.S971S	SIGLEC1_ENST00000202578.4_Silent_p.S971S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	971	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.S971S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGCAGCTAGGCTCGTGGTGG	0.602000													20	34					0	0	0.125774	0	0
ZNF623	9831	broad.mit.edu	37	8	144733168	144733168	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:144733168G>C	ENST00000501748.2	+	1	1215	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	ZNF623_ENST00000526926.1_Missense_Mutation_p.E336Q|ZNF623_ENST00000458270.2_Missense_Mutation_p.E336Q	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E376Q(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAACTCTATGAATGTAACGA	0.458000													8	84					0	0	0.047766	0	0
USH2A	7399	broad.mit.edu	37	1	216062335	216062335	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:216062335G>T	ENST00000366943.2	-	41	8042	c.7656C>A	c.(7654-7656)acC>acA	p.T2552T	USH2A_ENST00000307340.3_Silent_p.T2552T|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2552	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T2552K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGCTGCCAGGTGACCAACA	0.408000										HNSCC(13;0.011)			52	115					1.4374e-25	1.95127e-25	0.139131	1	0
PSMB5	5693	broad.mit.edu	37	14	23504054	23504054	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:23504054C>A	ENST00000361611.6	-	1	300	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	PSMB5_ENST00000493471.2_Missense_Mutation_p.V13L|PSMB5_ENST00000460922.2_Missense_Mutation_p.V13L|PSMB5_ENST00000425762.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	p.V13L(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CGCTGGTTCACCGGTAGCGGT	0.592000													29	24					2.08457e-15	2.57255e-15	0.153744	1	0
PCK2	5106	broad.mit.edu	37	14	24567693	24567693	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:24567693T>C	ENST00000545054.2	+	4	986	c.68T>C	c.(67-69)aTg>aCg	p.M23T	PCK2_ENST00000396973.4_Missense_Mutation_p.M157T|PCK2_ENST00000561286.1_Missense_Mutation_p.M23T|PCK2_ENST00000216780.4_Missense_Mutation_p.M157T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.M23T|PCK2_ENST00000559250.1_Missense_Mutation_p.M169T			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	157					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.M157T(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGCCGCACCATGTATGTGCTT	0.597000													14	17					0	0	0.146539	0	0
PGBD4	161779	broad.mit.edu	37	15	34396295	34396295	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:34396295A>G	ENST00000397766.2	+	1	2022	c.1563A>G	c.(1561-1563)ggA>ggG	p.G521G		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	521								p.G521G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GTCTGTCTGGAAGACATTTCC	0.493000													38	4					0	0	0.131918	0	0
CSMD2	114784	broad.mit.edu	37	1	34112374	34112374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:34112374G>T	ENST00000373381.4	-	29	4824	c.4648C>A	c.(4648-4650)Cct>Act	p.P1550T	CSMD2_ENST00000373380.1_Missense_Mutation_p.P423T|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1510	CUB 9.					integral to membrane|plasma membrane	protein binding	p.P1510T(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTATGAGAGGGCTGAGAGAG	0.562000													13	15					1.01871e-10	1.17319e-10	0.204396	1	0
ROBO3	64221	broad.mit.edu	37	11	124740583	124740583	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:124740583G>T	ENST00000397801.1	+	6	1184	c.992G>T	c.(991-993)aGt>aTt	p.S331I	ROBO3_ENST00000538940.1_Missense_Mutation_p.S309I	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	331	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity	p.S331I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCGGAGAACAGTGTGGGCCGC	0.592000													11	11					1.61879e-10	1.8564e-10	0.093190	1	0
PLB1	151056	broad.mit.edu	37	2	28855839	28855839	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:28855839C>T	ENST00000422425.2	+	55	4042	c.3998C>T	c.(3997-3999)tCc>tTc	p.S1333F	PLB1_ENST00000541605.1_Missense_Mutation_p.S309F|PLB1_ENST00000327757.5_Missense_Mutation_p.S1344F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1344	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.S1344F(1)|p.S1333F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCTTCTTCTCCGAGGACTGT	0.582000													36	61					0	0	0.124865	0	0
ABCA9	10350	broad.mit.edu	37	17	66979867	66979867	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:66979867C>A	ENST00000340001.4	-	36	4834	c.4623G>T	c.(4621-4623)caG>caT	p.Q1541H	ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1503H|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1541					transport	integral to membrane	ATP binding|ATPase activity	p.Q1541H(1)|p.Q1541Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCTGAGCAGCCTGGGGGAAAA	0.453000													30	154					5.8336e-16	7.22382e-16	0.183431	1	0
HMX2	3167	broad.mit.edu	37	10	124909497	124909497	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:124909497G>T	ENST00000339992.3	+	2	937	c.680G>T	c.(679-681)aGc>aTc	p.S227I		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	227					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S227I(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		ACTCTGGTGAGCATGCCGCTG	0.672000													15	2					1.99824e-07	2.18979e-07	0.160694	1	0
TDRD10	126668	broad.mit.edu	37	1	154517340	154517340	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:154517340C>G	ENST00000368482.4	+	11	1705	c.867C>G	c.(865-867)acC>acG	p.T289T	TDRD10_ENST00000368480.3_Silent_p.T289T|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	289	Tudor.						nucleotide binding|RNA binding	p.T289T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTTGGCCACCATCCCTGTGC	0.542000													27	77					0	0	0.108266	0	0
LCT	3938	broad.mit.edu	37	2	136594643	136594643	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:136594643C>T	ENST00000264162.2	-	1	107	c.97G>A	c.(97-99)Ggt>Agt	p.G33S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	33					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G33S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTAGAGGACCAGCGGTGGAA	0.468000													30	40					0	0	0.134883	0	0
XKR7	343702	broad.mit.edu	37	20	30556135	30556135	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:30556135G>A	ENST00000217299.3	+	1	331	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	53						integral to membrane		p.E53K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			gccgcgcTACGAGCTGCGGGA	0.776000													14	10					0	0	0.146539	0	0
MCOLN1	57192	broad.mit.edu	37	19	7589950	7589950	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:7589950C>G	ENST00000264079.6	+	2	260	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	45					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	p.L45L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCGTCGTCTCAAATACTTTT	0.622000													3	56					0	0	0.115264	0	0
CFHR4	10877	broad.mit.edu	37	1	196883639	196883639	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:196883639C>A	ENST00000367416.2	+	8	1329	c.1192C>A	c.(1192-1194)Cct>Act	p.P398T	CFHR4_ENST00000367418.1_Missense_Mutation_p.P152T|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.P152T	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.P152T(1)|p.P398T(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTGTGATATGCCTGTTTTTGA	0.373000													41	44					1.57945e-13	1.89325e-13	0.124865	1	0
C8B	732	broad.mit.edu	37	1	57395200	57395200	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:57395200C>G	ENST00000543257.1	-	13	2063	c.1497G>C	c.(1495-1497)tgG>tgC	p.W499C	C8B_ENST00000371237.4_Missense_Mutation_p.W551C|C8B_ENST00000535057.1_Missense_Mutation_p.W489C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	551	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.W551C(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCAATTTGACCAGCAATTCC	0.463000													3	66					0	0	0.115264	0	0
THSD7A	221981	broad.mit.edu	37	7	11501698	11501698	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:11501698C>A	ENST00000423059.3	-	10	2692	c.2441G>T	c.(2440-2442)tGc>tTc	p.C814F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	814	TSP type-1 8.					integral to membrane		p.C814F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGATCTGTGCAGTCTCGGCC	0.537000										HNSCC(18;0.044)			54	82					1.48341e-19	1.90423e-19	0.139131	1	0
TTN	7273	broad.mit.edu	37	2	179422208	179422208	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179422208G>T	ENST00000589042.1	-	329	88005	c.87781C>A	c.(87781-87783)Cca>Aca	p.P29261T	TTN_ENST00000460472.2_Missense_Mutation_p.P20196T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27620T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P20321T|TTN_ENST00000342992.6_Missense_Mutation_p.P26693T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20388T|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27620	Fibronectin type-III 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26693K(1)|p.P26691K(1)|p.P20321K(1)|p.P20196K(1)|p.P20388K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGACACTGGTTCATGCCAG	0.453000													39	53					4.44401e-20	5.73183e-20	0.117977	1	0
CDH9	1007	broad.mit.edu	37	5	26885756	26885756	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:26885756C>G	ENST00000231021.4	-	11	2021	c.1849G>C	c.(1849-1851)Gtt>Ctt	p.V617L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	617					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V617L(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGAATCGCAACGAGAGCTCCC	0.507000													13	16					0	0	0.105934	0	0
NLGN1	22871	broad.mit.edu	37	3	173997326	173997326	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:173997326T>C	ENST00000457714.1	+	6	1964	c.1535T>C	c.(1534-1536)gTa>gCa	p.V512A	NLGN1_ENST00000545397.1_Missense_Mutation_p.V512A|NLGN1_ENST00000401917.3_Missense_Mutation_p.V552A|NLGN1_ENST00000361589.4_Missense_Mutation_p.V512A	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	529					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.V512A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTCCCTATGTACTGGGAATC	0.453000													49	78					0	0	0.139131	0	0
NMNAT2	23057	broad.mit.edu	37	1	183259340	183259340	+	Splice_Site	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:183259340C>A	ENST00000287713.6	-	4	578	c.242_splice	c.e4-1	p.V82_splice	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Splice_Site_p.V77_splice	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	82					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.V82L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CAAGGGTCCACCCTAACATCA	0.512000													10	7					0.000442599	0.000457774	0.058154	1	0
PRDM9	56979	broad.mit.edu	37	5	23522995	23522995	+	Splice_Site	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:23522995G>T	ENST00000296682.3	+	8	1064		c.e8+1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCCTGGCTGGTAAGAAGAGC	0.493000										HNSCC(3;0.000094)			29	33					4.3181e-19	5.5235e-19	0.173368	1	0
PEAR1	375033	broad.mit.edu	37	1	156874598	156874598	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:156874598C>T	ENST00000338302.3	+	4	385	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	PEAR1_ENST00000292357.7_Missense_Mutation_p.P54S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	54	EMI.					integral to membrane		p.P54S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCTCAGAGCCCTGCGAGCG	0.667000													49	111					0	0	0.139131	0	0
CENPF	1063	broad.mit.edu	37	1	214818275	214818275	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214818275C>T	ENST00000366955.3	+	13	5530	c.5362C>T	c.(5362-5364)Cat>Tat	p.H1788Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1884					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.H1788Y(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGATTACTTCATGTGATAGA	0.363000													13	65					0	0	0.105934	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709120	176709120	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:176709120C>T	ENST00000367662.3	+	14	5103	c.3939C>T	c.(3937-3939)acC>acT	p.T1313T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1313					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.T1313N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTCAGGAACCTATGGACTGT	0.388000													40	111					0	0	0.098360	0	0
UGT2B17	7367	broad.mit.edu	37	4	69417582	69417582	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:69417582A>T	ENST00000317746.2	-	4	1095	c.1053T>A	c.(1051-1053)aaT>aaA	p.N351K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	351					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.N351K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ACAGTCGAGTATTGGAACCTA	0.343000													17	5					0	0	0.204396	0	0
SNX14	57231	broad.mit.edu	37	6	86223826	86223826	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:86223826T>A	ENST00000314673.3	-	25	2695	c.2519A>T	c.(2518-2520)cAg>cTg	p.Q840L	SNX14_ENST00000513865.1_Missense_Mutation_p.Q559L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.Q788L|SNX14_ENST00000346348.3_Missense_Mutation_p.Q787L|SNX14_ENST00000369627.2_Missense_Mutation_p.Q831L	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	840					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	p.Q840L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACGGTGCTCCTGAAATAGCTG	0.343000													31	46					0	0	0.203993	0	0
SCD5	79966	broad.mit.edu	37	4	83602054	83602054	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:83602054G>A	ENST00000319540.4	-	3	694	c.375C>T	c.(373-375)ttC>ttT	p.F125F	SCD5_ENST00000273908.4_Silent_p.F125F	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	125					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.F125F(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGACCACTCGAAGATGTCAT	0.607000													38	92					0	0	0.225048	0	0
RBM19	9904	broad.mit.edu	37	12	114384275	114384275	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:114384275C>A	ENST00000545145.2	-	12	1491	c.1413G>T	c.(1411-1413)agG>agT	p.R471S	RBM19_ENST00000392561.3_Missense_Mutation_p.R471S|RBM19_ENST00000261741.5_Missense_Mutation_p.R471S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	471	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.R471S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CGTGGAGCATCCTGCCCTGGA	0.562000													24	40					5.61819e-17	7.05359e-17	0.108266	1	0
PRM2	5620	broad.mit.edu	37	16	11370155	11370155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:11370155C>A	ENST00000435245.2	-	1	182	c.73G>T	c.(73-75)Gag>Tag	p.E25*	PRM2_ENST00000241808.4_Nonsense_Mutation_p.E25*|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	25					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.E25*(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGTCCTTGCTCTTGCCCATGC	0.622000													6	97					0.0215528	0.0217936	0.217242	1	0
KIAA1328	57536	broad.mit.edu	37	18	34753035	34753035	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:34753035C>A	ENST00000591619.1	+	9	2288	c.1502C>A	c.(1501-1503)aCc>aAc	p.T501N	KIAA1328_ENST00000586135.1_Missense_Mutation_p.T257N|KIAA1328_ENST00000435985.2_Missense_Mutation_p.T257N|KIAA1328_ENST00000543923.1_Missense_Mutation_p.T397N|KIAA1328_ENST00000280020.5_Missense_Mutation_p.T505N			Q86T90	K1328_HUMAN	KIAA1328	505								p.T505N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTACAGCACACCACCTCCCGG	0.403000													42	64					2.00842e-17	2.5274e-17	0.117977	1	0
LTBP2	4053	broad.mit.edu	37	14	74969961	74969961	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:74969961A>T	ENST00000261978.4	-	33	5235	c.4849T>A	c.(4849-4851)Tgg>Agg	p.W1617R	LTBP2_ENST00000556690.1_Missense_Mutation_p.W1573R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1617	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.W1617R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGCTGGCTCCAGGCCTCGCCG	0.652000													30	43					0	0	0.173368	0	0
BRDT	676	broad.mit.edu	37	1	92459667	92459667	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:92459667T>A	ENST00000370389.2	+	15	2848	c.1924T>A	c.(1924-1926)Tct>Act	p.S642T	BRDT_ENST00000399546.2_Missense_Mutation_p.S715T|BRDT_ENST00000394530.3_Missense_Mutation_p.S669T|BRDT_ENST00000402388.1_Missense_Mutation_p.S715T|BRDT_ENST00000362005.3_Missense_Mutation_p.S715T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	715	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.S715T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGACACAACCTCTGCCAATAC	0.343000													62	99					0	0	0.139131	0	0
ZNF761	388561	broad.mit.edu	37	19	53960363	53960363	+	RNA	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:53960363G>C	ENST00000454407.1	+	0	3055							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTAGTAGGCAGTCAACACTTG	0.433000													11	5					0	0	0.093190	0	0
KCNA4	3739	broad.mit.edu	37	11	30034042	30034042	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:30034042G>T	ENST00000328224.6	-	2	1417	c.184C>A	c.(184-186)Cac>Aac	p.H62N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	62	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.H62N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGGTGGTGGTGGGAGCCCCCA	0.662000													24	29					3.69857e-22	4.90433e-22	0.134883	1	0
COL5A2	1290	broad.mit.edu	37	2	189929300	189929300	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:189929300C>A	ENST00000374866.3	-	25	1973	c.1699G>T	c.(1699-1701)Ggg>Tgg	p.G567W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	567					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G567W(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGGAAGCCCAGGTTCCCCT	0.527000													16	40					2.48551e-13	2.97275e-13	0.160694	1	0
ATP11B	23200	broad.mit.edu	37	3	182575779	182575779	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:182575779A>G	ENST00000323116.5	+	11	1225	c.965A>G	c.(964-966)tAt>tGt	p.Y322C		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	322					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y322C(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GAACCTTGGTATAACCAAAAA	0.323000													32	143					0	0	0.173368	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	58					0	0	0.150653	0	0
PRR11	55771	broad.mit.edu	37	17	57247240	57247240	+	Splice_Site	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:57247240A>T	ENST00000262293.4	+	2	439	c.128_splice	c.e2+1	p.R43_splice		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	43								p.R43*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTCACCAGAAAGGTAAGGCTT	0.388000													29	83					0	0	0.144211	0	0
DCAF5	8816	broad.mit.edu	37	14	69529104	69529104	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:69529104G>A	ENST00000341516.5	-	8	1218	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	DCAF5_ENST00000553293.1_Intron|DCAF5_ENST00000557386.1_Silent_p.I356I|DCAF5_ENST00000554215.1_Silent_p.I275I|DCAF5_ENST00000556847.1_Silent_p.I275I	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	357						CUL4 RING ubiquitin ligase complex		p.I357I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCCTCACCTTGATAATCTTTT	0.383000													21	86					0	0	0.083992	0	0
LMBR1L	55716	broad.mit.edu	37	12	49495285	49495285	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:49495285G>C	ENST00000267102.8	-	12	1320	c.978C>G	c.(976-978)atC>atG	p.I326M	LMBR1L_ENST00000395141.4_Missense_Mutation_p.I321M|LMBR1L_ENST00000547382.1_Missense_Mutation_p.I326M	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	326					endocytosis	integral to membrane|plasma membrane	receptor activity	p.I326M(1)|p.I321M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGCCTCATCGATGAGCAGCT	0.612000													12	11					0	0	0.132662	0	0
DNAJC7	7266	broad.mit.edu	37	17	40142374	40142374	+	Silent	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:40142374T>C	ENST00000457167.4	-	6	743	c.507A>G	c.(505-507)ctA>ctG	p.L169L	DNAJC7_ENST00000426588.3_Silent_p.L113L|DNAJC7_ENST00000316603.7_Silent_p.L113L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	169					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	p.L159L(1)|p.L169L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GGGCAAATTCTAGGGCACGGT	0.463000													10	5					0	0	0.080935	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229828	140229828	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140229828G>T	ENST00000378122.3	+	1	2472	c.1748G>T	c.(1747-1749)cGg>cTg	p.R583L	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R583L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1												p.R583L(2)|p.R583K(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTGCTGCGGTCGGTGGGC	0.667000													31	59					1.32667e-27	1.83537e-27	0.139131	1	0
CNBD1	168975	broad.mit.edu	37	8	88296931	88296931	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:88296931C>G	ENST00000518476.1	+	7	848	c.797C>G	c.(796-798)aCt>aGt	p.T266S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	266								p.T266S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ACCTTTGGGACTCTGGAAGTT	0.393000													13	7					0	0	0.119110	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469627	21469627	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:21469627C>T	ENST00000298681.4	+	4	976	c.819C>T	c.(817-819)acC>acT	p.T273T	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	273						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	p.T273T(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGTATGTCACCTTCCTAGAAA	0.572000													50	90					0	0	0.139131	0	0
COL4A2	1284	broad.mit.edu	37	13	111009827	111009827	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:111009827G>A	ENST00000360467.5	+	4	414	c.108G>A	c.(106-108)aaG>aaA	p.K36K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	36					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.K36K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGTGTGAAGAAGTTTGATG	0.413000													5	35					0	0	0.029380	0	0
FAM71C	196472	broad.mit.edu	37	12	100042298	100042298	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:100042298G>C	ENST00000324341.1	+	1	768	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	116								p.E116Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		AGAGATCTTAGAACTAACCAG	0.512000													9	101					0	0	0.069234	0	0
KCNAB3	9196	broad.mit.edu	37	17	7830686	7830686	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:7830686G>A	ENST00000303790.2	-	4	379	c.380C>T	c.(379-381)aCc>aTc	p.T127I	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	127						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CACTTCGGCGGTGTCAAACAG	0.498000													52	49					0	0	0.139131	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075557	106075557	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:106075557C>A	ENST00000278071.2	-	3	705	c.253G>T	c.(253-255)Gcc>Tcc	p.A85S	ITPRIP_ENST00000358187.2_Missense_Mutation_p.A85S|ITPRIP_ENST00000337478.1_Missense_Mutation_p.A85S	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	85						plasma membrane		p.A85S(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGGTCCCAGGCCACGCGTGTC	0.677000													69	21					1.14856e-27	1.59506e-27	0.139131	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138713293	138713293	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:138713293G>A	ENST00000389532.4	-	11	3278	c.3214C>T	c.(3214-3216)Cca>Tca	p.P1072S	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1083S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P794S|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1072						cytoplasm|microtubule		p.P1072S(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AAGTGGACTGGTGCCTTCACT	0.612000													36	46					0	0	0.225048	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635274	122635274	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:122635274C>G	ENST00000249284.2	-	1	480	c.415G>C	c.(415-417)Gta>Cta	p.V139L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	139					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.V139L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGATTGTTACACAAGTAATC	0.403000													34	52					0	0	0.173368	0	0
DNAH5	1767	broad.mit.edu	37	5	13751251	13751251	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:13751251A>C	ENST00000265104.4	-	65	11251	c.11147T>G	c.(11146-11148)tTc>tGc	p.F3716C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3716	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F3716C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTGACAGTGAAGTCAATGAT	0.488000									Kartagener syndrome				40	61					0	0	0.098360	0	0
TP63	8626	broad.mit.edu	37	3	189349318	189349318	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:189349318C>T	ENST00000264731.3	+	1	103	c.14C>T	c.(13-15)aCt>aTt	p.T5I	TP63_ENST00000418709.2_Missense_Mutation_p.T5I|TP63_ENST00000440651.2_Missense_Mutation_p.T5I|TP63_ENST00000382063.4_Missense_Mutation_p.T5I|TP63_ENST00000320472.5_Missense_Mutation_p.T5I|TP63_ENST00000392460.3_Missense_Mutation_p.T5I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	5	Transcription activation.				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	p.T5I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AATTTTGAAACTTCACGGTGT	0.373000										HNSCC(45;0.13)			42	370					0	0	0.117977	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628815	8628815	+	Missense_Mutation	SNP	C	C	A	rs139024188		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:8628815C>A	ENST00000382073.3	+	5	650	c.464C>A	c.(463-465)aCa>aAa	p.T155K		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	155	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	p.T155K(1)		breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					attgataagacaccttatgag	0.358000													23	35					7.38237e-10	8.36874e-10	0.116897	1	0
TRIM49	57093	broad.mit.edu	37	11	89537465	89537465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:89537465G>T	ENST00000329758.1	-	3	501	c.173C>A	c.(172-174)tCa>tAa	p.S58*	TRIM49_ENST00000532501.2_Nonsense_Mutation_p.S58*	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	58						intracellular	zinc ion binding	p.S58Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTGCTCGGTTGACTTTGTGCA	0.473000													43	102					4.07013e-28	5.68875e-28	0.104719	1	0
KRT8	3856	broad.mit.edu	37	12	53295812	53295812	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:53295812C>G	ENST00000552551.1	-	3	801	c.369G>C	c.(367-369)tgG>tgC	p.W123C	KRT8_ENST00000293308.6_Missense_Mutation_p.W123C|KRT8_ENST00000546897.1_Missense_Mutation_p.W123C|KRT8_ENST00000552150.1_Missense_Mutation_p.W151C			P05787	K2C8_HUMAN	keratin 8	123	Coil 1A.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	p.W123C(1)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGGAGGCTCCACTTGGTCT	0.547000													17	27					0	0	0.234183	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128347858	128347858	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:128347858C>A	ENST00000265960.3	-	5	979	c.647G>T	c.(646-648)aGc>aTc	p.S216I	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.S216I|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.S24I|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.S216I|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.S216I|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.S24I|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S216I|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.S24I	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	216					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	p.S216I(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CCGTCCTTCGCTTGTATACTG	0.552000													48	59					1.83081e-24	2.45767e-24	0.139131	1	0
CRB1	23418	broad.mit.edu	37	1	197390239	197390239	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:197390239C>G	ENST00000367400.3	+	6	1416	c.1281C>G	c.(1279-1281)aaC>aaG	p.N427K	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.N126K|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N427K|CRB1_ENST00000367399.2_Missense_Mutation_p.N315K|CRB1_ENST00000535699.1_Missense_Mutation_p.N358K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	427	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.N427K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATTTGATAACCTTTCTAGAA	0.428000													102	82					0	0	0.139131	0	0
NLRP3	114548	broad.mit.edu	37	1	247597474	247597474	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:247597474G>T	ENST00000366497.2	+	6	3177	c.2397G>T	c.(2395-2397)aaG>aaT	p.K799N	NLRP3_ENST00000336119.3_Missense_Mutation_p.K799N|NLRP3_ENST00000348069.2_Missense_Mutation_p.K742N|NLRP3_ENST00000391827.2_Missense_Mutation_p.K742N|NLRP3_ENST00000366496.2_Missense_Mutation_p.K799N|NLRP3_ENST00000391828.3_Missense_Mutation_p.K799N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	856					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.K799N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCAACCAGAAGCTGGTGGAGC	0.552000													131	72					9.30381e-49	1.41314e-48	0.139131	1	0
ZNF488	118738	broad.mit.edu	37	10	48371464	48371464	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:48371464A>C	ENST00000395702.2	+	2	1159	c.932A>C	c.(931-933)aAg>aCg	p.K311T	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.K204T			Q96MN9	ZN488_HUMAN	zinc finger protein 488	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K311T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CATTCTCAGAAGCGGAGAGAA	0.597000													65	106					0	0	0.139131	0	0
ALPK2	115701	broad.mit.edu	37	18	56205026	56205026	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:56205026C>G	ENST00000361673.3	-	5	2606	c.2393G>C	c.(2392-2394)aGa>aCa	p.R798T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	798							ATP binding|protein serine/threonine kinase activity	p.R164T(1)|p.R798T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTGCTTCTCTGTCCCTTGG	0.498000													63	75					0	0	0.139131	0	0
C1orf173	127254	broad.mit.edu	37	1	75038802	75038802	+	Silent	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:75038802T>C	ENST00000326665.5	-	14	2810	c.2592A>G	c.(2590-2592)gcA>gcG	p.A864A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	864	Glu-rich.							p.A864A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGCATCTTTTGCTGCTGCTT	0.552000													104	134					0	0	0.139131	0	0
ADCY10	55811	broad.mit.edu	37	1	167780114	167780114	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:167780114G>T	ENST00000367848.1	-	32	4740	c.4243C>A	c.(4243-4245)Cct>Act	p.P1415T	ADCY10_ENST00000367851.4_Missense_Mutation_p.P1507T|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.P1354T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1507					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.P1507T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAAAAGACAGGGCCAGTGGTA	0.443000													28	57					2.81731e-10	3.2105e-10	0.153744	1	0
INPP5J	27124	broad.mit.edu	37	22	31522647	31522647	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:31522647C>G	ENST00000331075.5	+	4	1483	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	INPP5J_ENST00000404390.3_Silent_p.L110L|INPP5J_ENST00000412277.2_Silent_p.L411L|INPP5J_ENST00000405300.1_Silent_p.L111L|INPP5J_ENST00000400294.2_Silent_p.L111L			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	478	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	p.L111L(1)|p.L478L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGGACGCCCTCTTCACGGACC	0.617000													108	138					0	0	0.139131	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656956	40656956	+	Silent	SNP	T	T	C	rs149690605		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:40656956T>C	ENST00000406785.1	-	2	654	c.465A>G	c.(463-465)gaA>gaG	p.E155E	SLC8A1_ENST00000332839.4_Silent_p.E155E|SLC8A1_ENST00000405901.3_Silent_p.E155E|SLC8A1_ENST00000405269.1_Silent_p.E155E|SLC8A1_ENST00000542756.1_Silent_p.E155E|SLC8A1_ENST00000542024.1_Silent_p.E155E|SLC8A1_ENST00000408028.2_Silent_p.E155E|SLC8A1_ENST00000406391.2_Silent_p.E155E|SLC8A1_ENST00000403092.1_Silent_p.E155E|SLC8A1_ENST00000402441.1_Silent_p.E155E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	155					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.E155E(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGCCACACACTTCAATTACTG	0.463000													41	56					0	0	0.104719	0	0
FAM114A1	92689	broad.mit.edu	37	4	38907405	38907405	+	Missense_Mutation	SNP	G	G	T	rs139238894	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:38907405G>T	ENST00000358869.2	+	6	756	c.580G>T	c.(580-582)Gca>Tca	p.A194S	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	194						cytoplasm		p.A194S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCAGGGCCCTGCAGAAAGCCC	0.488000													17	6					1.2644e-06	1.36646e-06	0.219247	1	0
OSBPL7	114881	broad.mit.edu	37	17	45891105	45891105	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:45891105G>C	ENST00000007414.3	-	15	1638	c.1447C>G	c.(1447-1449)Ctg>Gtg	p.L483V	OSBPL7_ENST00000392507.3_Missense_Mutation_p.L483V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	483					lipid transport		lipid binding	p.L483V(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTTGCGCAGAATGTTCCAC	0.657000													15	42					0	0	0.146539	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660661	125660661	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:125660661G>C	ENST00000431078.1	+	22	4000	c.3636G>C	c.(3634-3636)acG>acC	p.T1212T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1212					cell adhesion|signal transduction	integral to membrane	receptor binding	p.T1212T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTGACCACGGTGCATTCTT	0.512000													2	3					0	0	0.115264	0	0
ATRN	8455	broad.mit.edu	37	20	3556573	3556573	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:3556573A>G	ENST00000262919.5	+	13	2260	c.2192A>G	c.(2191-2193)aAc>aGc	p.N731S	ATRN_ENST00000446916.2_Missense_Mutation_p.N731S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	731	PSI 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.N731S(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCCCCAGGAACCACAGCTGC	0.448000													25	39					0	0	0.124865	0	0
DOCK5	80005	broad.mit.edu	37	8	25222219	25222219	+	Splice_Site	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:25222219A>T	ENST00000276440.7	+	30	3166	c.3123_splice	c.e30+1	p.Q1041_splice		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1041						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Q1041L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTGAACTTCAGGTAGGCATG	0.418000													6	5					0	0	0.029380	0	0
ANPEP	290	broad.mit.edu	37	15	90328733	90328733	+	Splice_Site	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:90328733C>G	ENST00000300060.6	-	21	3065		c.e21-1			NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase						angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACTGCTCCAGCTGCCAGAAAA	0.567000													59	89					0	0	0.139131	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735206	55735206	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:55735206G>T	ENST00000312345.2	-	1	784	c.734C>A	c.(733-735)gCa>gAa	p.A245E		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A245E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GATAGTACCTGCTCCAAAGAA	0.388000													19	14					2.4624e-09	2.77115e-09	0.204396	1	0
BRINP2	57795	broad.mit.edu	37	1	177249996	177249996	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:177249996G>T	ENST00000361539.4	+	8	1996	c.1684G>T	c.(1684-1686)Ggg>Tgg	p.G562W	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		562						extracellular region		p.G562W(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GTACAAGCCTGGGCTGGTGCA	0.567000													8	40					1.76689e-08	1.96201e-08	0.058154	1	0
PKD1L2	114780	broad.mit.edu	37	16	81232343	81232343	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:81232343G>C	ENST00000599697.1	-	7	1466	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	489	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.L489L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGTTGCATTGAGTCCAGCCA	0.557000													38	38					0	0	0.225048	0	0
ROCK2	9475	broad.mit.edu	37	2	11484214	11484214	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:11484214C>A	ENST00000315872.6	-	1	497	c.49G>T	c.(49-51)Gcg>Tcg	p.A17S	ROCK2_ENST00000462366.1_Intron	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	17					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.A17S(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCCCCCGGCGCGGTCTCGGGG	0.741000													13	7					7.93312e-07	8.60676e-07	0.119110	1	0
IGDCC4	57722	broad.mit.edu	37	15	65677328	65677328	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:65677328C>A	ENST00000352385.2	-	19	3515	c.3306G>T	c.(3304-3306)acG>acT	p.T1102T	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1102			T -> A (in dbSNP:rs33918653).			integral to membrane|plasma membrane		p.T1102T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCAGCAACAGCGTCTGCCCAG	0.652000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	107					1.00246e-47	1.51838e-47	0.139131	1	0
RIMBP2	23504	broad.mit.edu	37	12	130912820	130912820	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:130912820G>A	ENST00000261655.4	-	12	2428	c.2265C>T	c.(2263-2265)gaC>gaT	p.D755D		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	755						cell junction|synapse		p.D755D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTCCATGATGTCTGAGAGGT	0.612000													35	74					0	0	0.214465	0	0
ZNF761	388561	broad.mit.edu	37	19	53958024	53958024	+	RNA	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:53958024A>T	ENST00000454407.1	+	0	716							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q34L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTTTGCTACCAGGATGTTGAT	0.388000													22	15					0	0	0.234183	0	0
IGHG4	3503	broad.mit.edu	37	14	106092257	106092257	+	RNA	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:106092257G>T	ENST00000390543.2	-	0	146																											AGGTGTGCACGCCGCTGGTCA	0.652000													21	76					2.70639e-06	2.89286e-06	0.069288	1	0
STAT3	6774	broad.mit.edu	37	17	40491337	40491337	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:40491337C>T	ENST00000264657.5	-	5	775	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	STAT3_ENST00000588969.1_Missense_Mutation_p.V155M|STAT3_ENST00000389272.3_Missense_Mutation_p.V57M|STAT3_ENST00000585517.1_Missense_Mutation_p.V155M|STAT3_ENST00000404395.3_Missense_Mutation_p.V155M	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	155					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.V155M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATCACCTGCACTCTCTTCCGG	0.542000									Hyperimmunoglobulin E Recurrent Infection Syndrome				28	90					0	0	0.163468	0	0
ATAD2	29028	broad.mit.edu	37	8	124381404	124381404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:124381404G>A	ENST00000287394.5	-	8	1050	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.Q315*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCTTTCTCTGGTGACGAGGT	0.328000													7	48					0	0	0.038147	0	0
KIF4B	285643	broad.mit.edu	37	5	154395250	154395250	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:154395250G>T	ENST00000435029.4	+	1	1991	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	611					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.D611Y(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAAATAGCTGATCTGAAGAA	0.453000													57	57					1.1794e-34	1.7055e-34	0.139131	1	0
PICK1	9463	broad.mit.edu	37	22	38470903	38470903	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:38470903G>C	ENST00000404072.3	+	13	1359	c.1012G>C	c.(1012-1014)Gtg>Ctg	p.V338L	PICK1_ENST00000356976.3_Missense_Mutation_p.V338L	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	338	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	p.V338L(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCAGCGCCTCGTGTCCACCAT	0.632000													18	45					0	0	0.219247	0	0
PAPOLG	64895	broad.mit.edu	37	2	60987327	60987327	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:60987327A>T	ENST00000238714.3	+	2	325	c.76A>T	c.(76-78)Agt>Tgt	p.S26C		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	26					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.S26C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CTCCCCAATTAGTTTGGCATC	0.348000													42	42					0	0	0.131918	0	0
HERC6	55008	broad.mit.edu	37	4	89338598	89338598	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:89338598A>C	ENST00000380265.5	+	13	1763	c.1580A>C	c.(1579-1581)cAa>cCa	p.Q527P	HERC6_ENST00000264346.7_Missense_Mutation_p.Q527P	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	527					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.Q527P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GCATTTTTGCAAGAATCTTCT	0.408000													6	12					0	0	0.047766	0	0
CLASP2	23122	broad.mit.edu	37	3	33614712	33614712	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:33614712C>A	ENST00000399362.4	-	26	2966	c.2613G>T	c.(2611-2613)caG>caT	p.Q871H	CLASP2_ENST00000359576.5_Missense_Mutation_p.Q863H|CLASP2_ENST00000480013.1_Missense_Mutation_p.Q651H|CLASP2_ENST00000307312.7_Missense_Mutation_p.Q352H|CLASP2_ENST00000468888.2_Missense_Mutation_p.Q872H|CLASP2_ENST00000539981.1_Missense_Mutation_p.Q641H|CLASP2_ENST00000461133.3_Missense_Mutation_p.Q630H	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	872								p.Q863H(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CATCTTCCGTCTGCCTCATAT	0.428000													86	39					4.04957e-52	6.21163e-52	0.139131	1	0
FCER1A	2205	broad.mit.edu	37	1	159277563	159277563	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:159277563A>G	ENST00000368115.1	+	6	714	c.615A>G	c.(613-615)caA>caG	p.Q205Q	FCER1A_ENST00000368114.1_Silent_p.Q172Q	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	205						integral to plasma membrane		p.Q205Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACTGGCTACAATTTTTTATCC	0.403000													6	137					0	0	0.069234	0	0
ZNF595	152687	broad.mit.edu	37	4	59969	59969	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:59969C>A	ENST00000509152.2	+	3	334	c.149C>A	c.(148-150)cCa>cAa	p.P50Q	ZNF595_ENST00000526473.2_Missense_Mutation_p.P50Q|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595									p.P50Q(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATCTCTAACCCAGACCTGGTC	0.398000													11	98					1.58986e-06	1.71119e-06	0.069234	1	0
LEFTY2	7044	broad.mit.edu	37	1	226128626	226128626	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:226128626C>T	ENST00000366820.5	-	1	563	c.215G>A	c.(214-216)cGc>cAc	p.R72H	LEFTY2_ENST00000420304.2_Missense_Mutation_p.R72H	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	72					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	p.R72H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCCGCGGGAGCGGTCCCCGTG	0.687000													25	68					0	0	0.144211	0	0
MTMR7	9108	broad.mit.edu	37	8	17228696	17228696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:17228696G>A	ENST00000180173.5	-	3	194	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	MTMR7_ENST00000521857.1_Nonsense_Mutation_p.Q54*	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	54							protein tyrosine phosphatase activity	p.Q54*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GTGGAAATCTGACTGTGAAGA	0.408000													44	69					0	0	0.139131	0	0
LINC00521	256369	broad.mit.edu	37	14	94464535	94464535	+	RNA	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:94464535G>A	ENST00000444118.1	+	0	215					NR_024182.1													p.G17M(1)									TGACAAGGAAGGGGACCTTCA	0.617000													18	41					0	0	0.204396	0	0
C14orf166	51637	broad.mit.edu	37	14	52471094	52471094	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:52471094G>A	ENST00000261700.3	+	8	760	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	C14orf166_ENST00000556760.1_Missense_Mutation_p.M183I	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	199						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	p.E199K(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					AGTTCTTAATGAAGCTGCTCA	0.373000													11	44					0	0	0.093190	0	0
C3P1	388503	broad.mit.edu	37	19	10169335	10169335	+	RNA	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:10169335T>A	ENST00000495140.1	+	0	1885																		p.?(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						AGACAGAAGGTAGGACCCCAG	0.567000													31	32					0	0	0.173368	0	0
CXorf67	340602	broad.mit.edu	37	X	51150737	51150737	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:51150737G>T	ENST00000342995.2	+	1	971	c.869G>T	c.(868-870)cGc>cTc	p.R290L						chromosome X open reading frame 67									p.R290L(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGCCCTGCCCGCCGAGGCCGC	0.736000													7	0					0.00136819	0.0014044	0.093190	1	0
SPIDR	23514	broad.mit.edu	37	8	48647874	48647874	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:48647874C>G	ENST00000297423.4	+	20	2994	c.2610C>G	c.(2608-2610)taC>taG	p.Y870*	SPIDR_ENST00000518074.1_Missense_Mutation_p.R811G|SPIDR_ENST00000541342.1_Nonsense_Mutation_p.Y800*|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_Missense_Mutation_p.T94R|SPIDR_ENST00000517693.1_Nonsense_Mutation_p.Y345*	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair									p.Y870*(1)									TGCAGAGCTACGAAGTGAAGA	0.517000													104	139					0	0	0.139131	0	0
NR1H4	9971	broad.mit.edu	37	12	100926249	100926249	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:100926249A>T	ENST00000548884.1	+	5	1000	c.459A>T	c.(457-459)agA>agT	p.R153S	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Missense_Mutation_p.R153S|NR1H4_ENST00000188403.7_Missense_Mutation_p.R163S|NR1H4_ENST00000551379.1_Missense_Mutation_p.R163S	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	163					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R163S(1)|p.R153S(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCTTCAGGAGAAGCATTACCA	0.423000													37	56					0	0	0.246493	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041292	234041292	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:234041292C>T	ENST00000366618.3	+	2	216	c.71C>T	c.(70-72)cCg>cTg	p.P24L		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane		p.P24L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGGAGGTCACCGGACGTCAGC	0.642000													31	18					0	0	0.183431	0	0
TRAJ25	28730	broad.mit.edu	37	14	22987821	22987821	+	RNA	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:22987821G>A	ENST00000390512.2	+	0	32																											TTATCTTTGGGAAGGGGACAA	0.438000													10	16					0	0	0.093190	0	0
PLCG1	5335	broad.mit.edu	37	20	39794392	39794392	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:39794392G>T	ENST00000373272.2	+	16	2130	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	PLCG1_ENST00000244007.3_Missense_Mutation_p.E575D|PLCG1_ENST00000373271.1_Missense_Mutation_p.E575D	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	575	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.E575D(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACTGCATCGAGACCGGAGCCC	0.587000													49	59					6.81593e-30	9.60065e-30	0.139131	1	0
PLOD2	5352	broad.mit.edu	37	3	145790448	145790448	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:145790448C>G	ENST00000282903.5	-	17	1925	c.1748G>C	c.(1747-1749)tGt>tCt	p.C583S	PLOD2_ENST00000360060.3_Missense_Mutation_p.C562S|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.C243S|PLOD2_ENST00000494950.1_Missense_Mutation_p.C528S	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	562					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.C583S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GACATCTGGACAGGGCTATAA	0.328000													13	46					0	0	0.105934	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964886	31964886	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:31964886G>C	ENST00000391624.1	+	1	128	c.101G>C	c.(100-102)tGc>tCc	p.C34S		NM_181605.3	NP_853636.3			keratin associated protein 6-3									p.C34S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						ggctatgggtgctgtggctac	0.597000													23	32					0	0	0.116897	0	0
NETO1	81832	broad.mit.edu	37	18	70417719	70417719	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:70417719G>C	ENST00000327305.6	-	9	1776	c.1119C>G	c.(1117-1119)gtC>gtG	p.V373V	NETO1_ENST00000583169.1_Silent_p.V373V|NETO1_ENST00000299430.2_Silent_p.V372V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	373					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.V373V(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATTTCCTTTGGACATACTTTT	0.453000													11	52					0	0	0.080935	0	0
MYH13	8735	broad.mit.edu	37	17	10243657	10243657	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:10243657C>A	ENST00000418404.3	-	16	2119	c.1956G>T	c.(1954-1956)tcG>tcT	p.S652S	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Silent_p.S652S|MYH13_ENST00000252172.4_Silent_p.S652S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	652	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S652S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGAACACGGCCGACACGGTCT	0.512000													15	12					3.45872e-05	3.62215e-05	0.146539	1	0
FAM135B	51059	broad.mit.edu	37	8	139164452	139164452	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:139164452C>G	ENST00000395297.1	-	13	2436	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	756								p.E756Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCATCCTCCTCAAAAGGTAAA	0.532000										HNSCC(54;0.14)			26	32					0	0	0.125774	0	0
APC	324	broad.mit.edu	37	5	112175225	112175225	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:112175225G>C	ENST00000457016.1	+	16	4314	c.3934G>C	c.(3934-3936)Gga>Cga	p.G1312R	APC_ENST00000508376.2_Missense_Mutation_p.G1312R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.G1312R			P25054	APC_HUMAN	adenomatous polyposis coli	1312	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		G -> E (in gastric cancer).		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.G1312*(25)|p.G1312R(1)|p.K1192fs*3(1)|p.?(1)|p.G1312fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAAAGATTGGAACTAGGTC	0.428000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			19	5					0	0	0.076483	0	0
TTN	7273	broad.mit.edu	37	2	179427123	179427123	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179427123G>T	ENST00000589042.1	-	326	83960	c.83736C>A	c.(83734-83736)acC>acA	p.T27912T	TTN_ENST00000460472.2_Silent_p.T18847T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T26271T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T18972T|TTN_ENST00000342992.6_Silent_p.T25344T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T19039T|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26271	Fibronectin type-III 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T25344T(1)|p.T25342T(1)|p.T18847T(1)|p.T18972T(1)|p.T19039T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTGTGCAGGTGCTCCACT	0.433000													46	71					3.54909e-21	4.63259e-21	0.124865	1	0
CENPF	1063	broad.mit.edu	37	1	214819658	214819658	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214819658C>A	ENST00000366955.3	+	13	6913	c.6745C>A	c.(6745-6747)Cag>Aag	p.Q2249K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2345	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.Q2249K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCAGAGATACAGATCAAAGA	0.373000													32	147					8.4185e-14	1.01471e-13	0.163468	1	0
FUT9	10690	broad.mit.edu	37	6	96651667	96651667	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:96651667C>A	ENST00000302103.5	+	3	962	c.636C>A	c.(634-636)agC>agA	p.S212R		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	212					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.S212R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TAAGCAAAAGCATTGAAATCC	0.373000													10	13					0.00829132	0.00844688	0.069234	1	0
ZNF268	10795	broad.mit.edu	37	12	133779191	133779191	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:133779191A>T	ENST00000536435.2	+	6	1249	c.919A>T	c.(919-921)Aat>Tat	p.N307Y	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.N146Y|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.N307Y	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N307Y(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTATGGTTGTAATGAATGTGG	0.413000													4	4					0	0	0.217242	0	0
TMEM52B	120939	broad.mit.edu	37	12	10339082	10339082	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:10339082C>T	ENST00000298530.3	+	3	719	c.141C>T	c.(139-141)tgC>tgT	p.C47C	TMEM52B_ENST00000536952.1_Silent_p.C67C|TMEM52B_ENST00000381923.2_Silent_p.C67C	NM_153022.2	NP_694567.1			transmembrane protein 52B									p.C47C(1)									GCTTCCGCTGCTGCTGTCTGA	0.597000													7	45					0	0	0.047766	0	0
PLCB1	23236	broad.mit.edu	37	20	8698346	8698346	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:8698346C>T	ENST00000378641.3	+	14	1839	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.P455L|PLCB1_ENST00000338037.6_Missense_Mutation_p.P455L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	455	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.P455L(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTCCAAGCCCTATGGATTTA	0.408000													55	106					0	0	0.139131	0	0
MYO7B	4648	broad.mit.edu	37	2	128381781	128381781	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:128381781C>T	ENST00000389524.4	+	29	3908	c.3855C>T	c.(3853-3855)ttC>ttT	p.F1285F	MYO7B_ENST00000409816.2_Silent_p.F1285F|MYO7B_ENST00000409090.1_Silent_p.F138F|MYO7B_ENST00000428314.1_Silent_p.F1285F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1285	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.F1285F(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCATCTACTTCCGGAAGGAAT	0.642000													6	6					0	0	0.217242	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719051	140719051	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140719051A>T	ENST00000394576.2	+	1	513	c.513A>T	c.(511-513)gcA>gcT	p.A171A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A171A(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGTACGCACTCAACCCAA	0.537000													47	83					0	0	0.139131	0	0
HIP1R	9026	broad.mit.edu	37	12	123341206	123341206	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:123341206A>G	ENST00000253083.4	+	17	1678	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	518					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	p.K518R(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GAGAAGCTCAAGAGGGAGCTG	0.662000													5	7					0	0	0.184627	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128628438	128628438	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:128628438C>G	ENST00000272647.5	-	5	843	c.583G>C	c.(583-585)Gtc>Ctc	p.V195L	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V195L	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	195	AMMECR1.							p.V195L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AGGAGGGAGACAGAGCAGAAA	0.522000													16	26					0	0	0.189662	0	0
MEP1A	4224	broad.mit.edu	37	6	46806815	46806815	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:46806815G>C	ENST00000230588.4	+	14	2192	c.2183G>C	c.(2182-2184)gGc>gCc	p.G728A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	728					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.G728A(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GGCACGGCTGGCGTGATCTTC	0.602000													6	183					0	0	0.029380	0	0
DEFA4	1669	broad.mit.edu	37	8	6794318	6794318	+	Missense_Mutation	SNP	C	C	A	rs149266478		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:6794318C>A	ENST00000297435.2	-	2	228	c.104G>T	c.(103-105)cGt>cTt	p.R35L		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	35					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.R35L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTCTGGCCCACGCTGCTCCTG	0.552000													47	63					1.15181e-12	1.36706e-12	0.139131	1	0
TMC1	117531	broad.mit.edu	37	9	75420388	75420388	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:75420388T>C	ENST00000297784.5	+	18	2197	c.1657T>C	c.(1657-1659)Tgc>Cgc	p.C553R	TMC1_ENST00000396237.3_Missense_Mutation_p.C553R|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.C553R	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	553					sensory perception of sound	integral to membrane		p.C553R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTGAGGTTTTGCAATTATTG	0.348000													133	192					0	0	0.139131	0	0
ZNF274	10782	broad.mit.edu	37	19	58718164	58718164	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:58718164G>A	ENST00000326804.4	+	5	793	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ZNF274_ENST00000424679.2_Missense_Mutation_p.E7K|ZNF274_ENST00000345813.3_Missense_Mutation_p.E80K|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	112					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E80K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGAGGTTGTTGAGGTCCTCAC	0.532000													10	13					0	0	0.058154	0	0
UNC80	285175	broad.mit.edu	37	2	210642194	210642194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:210642194G>T	ENST00000439458.1	+	4	591	c.511G>T	c.(511-513)Gag>Tag	p.E171*	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Nonsense_Mutation_p.E171*	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	171						integral to membrane		p.E171*(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGACGAAGAAGAGAACAACCG	0.512000													68	81					2.36135e-34	3.40562e-34	0.139131	1	0
CA5A	763	broad.mit.edu	37	16	87935551	87935551	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:87935551C>A	ENST00000309893.2	-	5	650	c.585G>T	c.(583-585)agG>agT	p.R195S		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	195					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	p.R195S(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		TGTCCACCAGCCTCTGCAGCG	0.557000													129	150					3.57201e-63	5.58159e-63	0.139131	1	0
ZNF831	128611	broad.mit.edu	37	20	57768837	57768837	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:57768837C>T	ENST00000371030.2	+	1	2763	c.2763C>T	c.(2761-2763)acC>acT	p.T921T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	921						intracellular	nucleic acid binding|zinc ion binding	p.T921T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCTGGCCACCCCACCTCAGG	0.632000													35	64					0	0	0.117977	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607206	84607206	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:84607206T>A	ENST00000344803.2	+	4	1868	c.1821T>A	c.(1819-1821)caT>caA	p.H607Q		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.H607Q(2)									TGTGTTTTCATAGACCCCAGA	0.488000													55	72					0	0	0.139131	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110454334	110454334	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:110454334G>C	ENST00000260283.4	-	14	1827	c.1543C>G	c.(1543-1545)Cca>Gca	p.P515A	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P492A|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P479A|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P489A|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P58A|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P479A|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P489A	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	515	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P515A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGAATACTTGGAGCGACACAC	0.403000													5	32					0	0	0.217242	0	0
ANGPT2	285	broad.mit.edu	37	8	6389855	6389855	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:6389855G>T	ENST00000325203.5	-	2	916	c.442C>A	c.(442-444)Caa>Aaa	p.Q148K	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Missense_Mutation_p.Q148K|ANGPT2_ENST00000415216.1_Missense_Mutation_p.Q148K|ANGPT2_ENST00000338312.6_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	148					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	p.Q148K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TTACTTACTTGGGCTTCCACA	0.483000													59	105					5.5144e-22	7.2766e-22	0.139131	1	0
AMPH	273	broad.mit.edu	37	7	38424511	38424511	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:38424511C>A	ENST00000356264.2	-	21	2211	c.1996G>T	c.(1996-1998)Gtg>Ttg	p.V666L	AMPH_ENST00000325590.5_Missense_Mutation_p.V624L|AMPH_ENST00000428293.2_Missense_Mutation_p.V624L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	666	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.V666L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCACTCCCACCAGCCAGCCT	0.453000													30	40					7.63091e-17	9.53644e-17	0.098360	1	0
LHX8	431707	broad.mit.edu	37	1	75626524	75626524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:75626524G>T	ENST00000294638.5	+	10	1679	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*	LHX8_ENST00000356261.3_Nonsense_Mutation_p.G329*	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	339						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G339*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AACAACTCTTGGACTCCAGCC	0.343000													48	62					1.63038e-21	2.14098e-21	0.139131	1	0
DLK1	8788	broad.mit.edu	37	14	101200812	101200812	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:101200812G>T	ENST00000341267.4	+	5	973	c.731G>T	c.(730-732)tGt>tTt	p.C244F	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	244	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.C244F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGTCTCACCTGTGTCAAGAAG	0.677000													39	41					1.5731e-28	2.20437e-28	0.124865	1	0
OR2T11	127077	broad.mit.edu	37	1	248790328	248790328	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248790328C>A	ENST00000330803.2	-	1	163	c.102G>T	c.(100-102)ggG>ggT	p.G34G		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G34G(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTCACGGCCCCCAAGAAAA	0.507000													85	9					1.52223e-32	2.18381e-32	0.139131	1	0
AGAP1	116987	broad.mit.edu	37	2	236957706	236957706	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:236957706C>T	ENST00000409538.1	+	15	3027	c.2531C>T	c.(2530-2532)cCc>cTc	p.P844L	AGAP1_ENST00000304032.7_Missense_Mutation_p.P632L|AGAP1_ENST00000428334.2_Missense_Mutation_p.P471L|AGAP1_ENST00000336665.5_Missense_Mutation_p.P579L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	632					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.P632L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCCGTAGATCCCAACTGGGCC	0.512000													43	55					0	0	0.117977	0	0
STAG3	10734	broad.mit.edu	37	7	99802356	99802356	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:99802356C>A	ENST00000426455.1	+	27	3316	c.2909C>A	c.(2908-2910)cCc>cAc	p.P970H	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Missense_Mutation_p.P912H|STAG3_ENST00000317296.5_Missense_Mutation_p.P970H|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	970					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.P970H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTTTTGGACCCCAGCAGCTG	0.582000													15	27					1.5739e-10	1.80682e-10	0.146539	1	0
ACOX3	8310	broad.mit.edu	37	4	8390969	8390969	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:8390969C>A	ENST00000356406.5	-	13	1545	c.1468G>T	c.(1468-1470)Gac>Tac	p.D490Y	ACOX3_ENST00000503233.1_Missense_Mutation_p.D490Y|ACOX3_ENST00000413009.2_Missense_Mutation_p.D490Y	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	490					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.D490Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGATAGGCGTCCAGAAAGTCC	0.552000													9	3					5.16669e-11	6.00752e-11	0.080935	1	0
OR2T6	254879	broad.mit.edu	37	1	248551769	248551769	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248551769C>A	ENST00000355728.2	+	1	860	c.860C>A	c.(859-861)cCt>cAt	p.P287H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287H(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTATTAAACCCTCTCATCTAC	0.458000													41	77					4.01765e-15	4.93014e-15	0.111260	1	0
CCDC88C	440193	broad.mit.edu	37	14	91779509	91779509	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:91779509C>T	ENST00000389857.6	-	15	2737	c.2651G>A	c.(2650-2652)gGc>gAc	p.G884D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	884					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	p.G884D(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTTCAGCTTGCCGGCTGCGTC	0.602000													4	119					0	0	0.150653	0	0
URI1	8725	broad.mit.edu	37	19	30502071	30502071	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:30502071G>A	ENST00000392271.1	+	9	1403	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	URI1_ENST00000542441.2_Missense_Mutation_p.R369Q|URI1_ENST00000360605.4_Missense_Mutation_p.R351Q|URI1_ENST00000312051.6_Missense_Mutation_p.R329Q	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	369					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.R369Q(1)									AAACGTAAACGAAAGAACAGC	0.468000													57	86					0	0	0.139131	0	0
CENPF	1063	broad.mit.edu	37	1	214815414	214815414	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214815414C>T	ENST00000366955.3	+	12	3901	c.3733C>T	c.(3733-3735)Ctt>Ttt	p.L1245F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1321					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.L1245F(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGAGGAGATCTTGAAACCAG	0.388000													16	77					0	0	0.146539	0	0
MMD2	221938	broad.mit.edu	37	7	4950852	4950852	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:4950852A>G	ENST00000404774.3	-	5	585	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	MMD2_ENST00000401401.3_Missense_Mutation_p.W131R|MMD2_ENST00000406755.1_Missense_Mutation_p.W131R	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	131						integral to membrane	receptor activity	p.W131R(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TGGGAGGCCCAGGGGCCCAGC	0.657000													4	6					0	0	0.029380	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377019	125377019	+	Translation_Start_Site	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:125377019G>A	ENST00000297913.2	+	1	72	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGCAACAGATGGACAACAGCA	0.433000													47	68					0	0	0.139131	0	0
GPR97	222487	broad.mit.edu	37	16	57713163	57713163	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:57713163G>T	ENST00000333493.4	+	5	728	c.567G>T	c.(565-567)atG>atT	p.M189I	GPR97_ENST00000450388.3_Missense_Mutation_p.M69I|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	189					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M189I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGACAAATGCATGTCACCA	0.647000													74	84					2.72187e-29	3.82399e-29	0.139131	1	0
TRPA1	8989	broad.mit.edu	37	8	72975803	72975803	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:72975803T>C	ENST00000262209.4	-	5	763	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	186			K -> N (in dbSNP:rs7819749).			integral to plasma membrane		p.N186D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTCCTTTTTTAAGCTGGAAG	0.363000													25	25					0	0	0.091800	0	0
SYT10	341359	broad.mit.edu	37	12	33532835	33532835	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:33532835G>T	ENST00000228567.3	-	6	1728	c.1432C>A	c.(1432-1434)Cga>Aga	p.R478R	SYT10_ENST00000535526.1_Silent_p.R297R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	478						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R478R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAGTGGTCTCGCCCAAGACCC	0.458000													48	85					9.45407e-15	1.15102e-14	0.139131	1	0
ASXL3	80816	broad.mit.edu	37	18	31325273	31325273	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:31325273A>T	ENST00000269197.5	+	12	5461	c.5461A>T	c.(5461-5463)Aga>Tga	p.R1821*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R1821*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTCCAAATGAGAAAGCGAGA	0.478000													93	136					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179604494	179604494	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179604494G>T	ENST00000589042.1	-	48	13690	c.13466C>A	c.(13465-13467)aCa>aAa	p.T4489K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T4126K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T4172K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T4251K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T4318K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4172	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T4251K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTCAGCTGTTAGGATGTC	0.388000													115	167					2.09629e-50	3.19743e-50	0.139131	1	0
BRD4	23476	broad.mit.edu	37	19	15350202	15350202	+	Splice_Site	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:15350202C>A	ENST00000263377.2	-	17	3798		c.e17+1			NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4						interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.?(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCATCCCAACCTTTTTGGGC	0.627000			T	C15orf55	lethal midline carcinoma of young people								41	81					9.52127e-25	1.28289e-24	0.139131	1	0
PHLDB1	23187	broad.mit.edu	37	11	118509945	118509945	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:118509945G>A	ENST00000361417.2	+	13	3123	c.2712G>A	c.(2710-2712)ccG>ccA	p.P904P	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000356063.5_Silent_p.P904P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	904								p.P904P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGCCTTTCCCGAAGACCACAT	0.552000													40	47					0	0	0.104719	0	0
SPATA16	83893	broad.mit.edu	37	3	172835417	172835417	+	Silent	SNP	C	C	G	rs141312480	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:172835417C>G	ENST00000351008.3	-	2	288	c.105G>C	c.(103-105)gcG>gcC	p.A35A		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	35					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.A35A(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TAGGTGGGTGCGCTAAGGTGG	0.403000													139	612					0	0	0.139131	0	0
C1orf127	148345	broad.mit.edu	37	1	11008812	11008812	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:11008812C>A	ENST00000377004.4	-	12	1379	c.1380G>T	c.(1378-1380)caG>caT	p.Q460H	C1orf127_ENST00000377008.4_Missense_Mutation_p.Q293H	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	311								p.Q460H(1)|p.Q293H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGGGACCTCGCTGAGCTTGCA	0.627000													44	76					2.68985e-26	3.67444e-26	0.139131	1	0
CHST1	8534	broad.mit.edu	37	11	45672310	45672310	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:45672310T>C	ENST00000308064.2	-	4	834	c.164A>G	c.(163-165)tAc>tGc	p.Y55C		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	55					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.Y55C(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAGAGGTTGTAGGCGAAGGT	0.657000													42	46					0	0	0.139131	0	0
INSC	387755	broad.mit.edu	37	11	15197587	15197587	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:15197587C>T	ENST00000379554.3	+	3	544	c.498C>T	c.(496-498)agC>agT	p.S166S	INSC_ENST00000379556.3_Silent_p.S119S|INSC_ENST00000530161.1_Silent_p.S119S|INSC_ENST00000528567.1_Silent_p.S119S|INSC_ENST00000424273.1_Silent_p.S119S|INSC_ENST00000525218.1_Silent_p.S119S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	166					cell differentiation|nervous system development	cytoplasm	binding	p.S166S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCATGGTCAGCGAGTACAGTG	0.627000													7	3					0	0	0.069234	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390292	61390292	+	RNA	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:61390292A>T	ENST00000544088.1	+	0	900				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.R78*(1)|p.R280*(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CATGATGGAAAGAGAAGTTGA	0.423000													3	13					0	0	0.115264	0	0
C1orf168	199920	broad.mit.edu	37	1	57216826	57216826	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:57216826G>C	ENST00000343433.6	-	9	1358	c.1278C>G	c.(1276-1278)caC>caG	p.H426Q	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	426								p.H426Q(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCTACCTGTGTGGACGTTGG	0.493000													32	31					0	0	0.163468	0	0
RTL1	388015	broad.mit.edu	37	14	101349375	101349375	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:101349375G>T	ENST00000534062.1	-	1	1809	c.1751C>A	c.(1750-1752)tCc>tAc	p.S584Y	MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	584								p.S584Y(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AAGATCATCGGATCCGTCTGA	0.562000													20	28					2.27731e-05	2.40345e-05	0.234183	1	0
NDUFB4	4710	broad.mit.edu	37	3	120320114	120320114	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:120320114C>G	ENST00000485064.1	+	2	369	c.337C>G	c.(337-339)Cag>Gag	p.Q113E	NDUFB4_ENST00000492739.1_Intron|NDUFB4_ENST00000184266.2_Intron	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	0					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.Q113E(1)|p.?(1)		breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	GGTAAGTATTCAGACCAGATG	0.458000													67	181					0	0	0.139131	0	0
ZNF841	284371	broad.mit.edu	37	19	52568469	52568469	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:52568469C>T	ENST00000389534.4	-	7	3125	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	ZNF841_ENST00000426391.2_Missense_Mutation_p.R773H|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R889H|ZNF841_ENST00000359973.2_Missense_Mutation_p.R465H	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R889H(2)|p.R330H(1)|p.R465H(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GAGGCCTGAGCGACTAATGTA	0.428000													8	20					0	0	0.058154	0	0
TTC27	55622	broad.mit.edu	37	2	32897384	32897384	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:32897384G>C	ENST00000317907.4	+	8	1216	c.985G>C	c.(985-987)Gca>Cca	p.A329P		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	329							protein binding	p.A329P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CATAAAGTTAGCAGATTGTGA	0.358000													70	129					0	0	0.139131	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	538915	538915	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:538915G>T	ENST00000262305.4	+	5	1568	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.G394C|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.G98C	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	394					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.G394C(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TGAGGACTACGGTGAAGGCAG	0.582000													19	41					7.45023e-12	8.76592e-12	0.219247	1	0
SLC26A9	115019	broad.mit.edu	37	1	205884139	205884139	+	Silent	SNP	G	G	T	rs147712135		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:205884139G>T	ENST00000367134.2	-	22	2658	c.2545C>A	c.(2545-2547)Cga>Aga	p.R849R	SLC26A9_ENST00000340781.4_Silent_p.R849R|SLC26A9_ENST00000367135.3_3'UTR	NM_134325.2	NP_599152.2	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.R849R(1)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGCTCACTCGTAAAAGCTGG	0.562000													59	158					5.73332e-34	8.2578e-34	0.139131	1	0
FAM154B	283726	broad.mit.edu	37	15	82575200	82575200	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:82575200G>A	ENST00000339465.5	+	3	1063	c.994G>A	c.(994-996)Gag>Aag	p.E332K	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.E317K	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	332								p.E332K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GATCCCAACAGAGAGTTGCAA	0.383000													14	52					0	0	0.160694	0	0
NEB	4703	broad.mit.edu	37	2	152423688	152423688	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:152423688C>T	ENST00000397345.3	-	114	18352	c.18150G>A	c.(18148-18150)caG>caA	p.Q6050Q	NEB_ENST00000427231.2_Silent_p.Q6050Q|NEB_ENST00000603639.1_Silent_p.Q6050Q|NEB_ENST00000172853.10_Silent_p.Q4349Q|NEB_ENST00000604864.1_Silent_p.Q6050Q|NEB_ENST00000409198.1_Silent_p.Q4349Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6044					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q4349Q(1)|p.Q6050Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTAGGTCAT	0.398000													37	75					0	0	0.225048	0	0
PTCHD2	57540	broad.mit.edu	37	1	11577583	11577583	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:11577583G>T	ENST00000294484.6	+	7	1951	c.1813G>T	c.(1813-1815)Gtg>Ttg	p.V605L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V605L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	605	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.V822L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTGGCTGGCCGTGCTTGTCAC	0.612000													35	54					4.44401e-20	5.73183e-20	0.117977	1	0
PKHD1	5314	broad.mit.edu	37	6	51524215	51524215	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:51524215G>A	ENST00000371117.3	-	61	10984	c.10709C>T	c.(10708-10710)tCa>tTa	p.S3570L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3570					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S3570L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCTAAGACTGAAACCATCAC	0.423000													8	45					0	0	0.047766	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486832	25486832	+	RNA	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:25486832G>C	ENST00000453082.2	+	0	2151					NR_003343.1																						TCTGCACTAAGCTGTGGTGAG	0.542000													51	17					0	0	0.139131	0	0
RNGTT	8732	broad.mit.edu	37	6	89324034	89324034	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:89324034C>T	ENST00000369485.4	-	15	1773	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	RNGTT_ENST00000538899.1_Silent_p.Q446Q|RNGTT_ENST00000265607.6_Silent_p.Q506Q	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	529	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q529Q(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TGTCTGTTCTCTGTCTCATGA	0.348000													22	30					0	0	0.083992	0	0
LMOD2	442721	broad.mit.edu	37	7	123302795	123302795	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:123302795T>A	ENST00000458573.2	+	2	1312	c.1155T>A	c.(1153-1155)ccT>ccA	p.P385P	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	385	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding	p.P385P(1)									GAGGAACACCTAGCTCTTCAC	0.507000													50	70					0	0	0.139131	0	0
CTSD	1509	broad.mit.edu	37	11	1774740	1774740	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:1774740C>T	ENST00000236671.2	-	9	1364	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	411					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.R411H(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAACTAGAGGCGGGCAGCCTC	0.662000													34	39					0	0	0.117977	0	0
KCNB2	9312	broad.mit.edu	37	8	73849879	73849879	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:73849879G>T	ENST00000523207.1	+	3	2877	c.2289G>T	c.(2287-2289)caG>caT	p.Q763H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	763					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q763H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCCCTCCCAGGGAGACAGAC	0.582000													105	130					8.43681e-56	1.30891e-55	0.139131	1	0
OR5B21	219968	broad.mit.edu	37	11	58275014	58275014	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:58275014C>G	ENST00000360374.2	-	1	564	c.565G>C	c.(565-567)Gac>Cac	p.D189H		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D189Y(1)|p.D189H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCGTGTGTCAGAGCATGAG	0.463000													11	37					0	0	0.069234	0	0
RNF43	54894	broad.mit.edu	37	17	56435120	56435120	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:56435120T>C	ENST00000584437.1	-	8	3972	c.2017A>G	c.(2017-2019)Act>Gct	p.T673A	RNF43_ENST00000500597.2_Missense_Mutation_p.T632A|RNF43_ENST00000577716.1_Missense_Mutation_p.T673A|RNF43_ENST00000407977.2_Missense_Mutation_p.T673A|RNF43_ENST00000581868.1_Missense_Mutation_p.T546A|RNF43_ENST00000583753.1_Missense_Mutation_p.T632A|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.T546A			Q68DV7	RNF43_HUMAN	ring finger protein 43	673	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.T673A(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTGCACAGTTGCATCCTGG	0.607000													110	205					0	0	0.139131	0	0
ZNF236	7776	broad.mit.edu	37	18	74639891	74639891	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:74639891G>T	ENST00000253159.8	+	25	4615	c.4417G>T	c.(4417-4419)Gac>Tac	p.D1473Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.D1475Y	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1473					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1473Y(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGGACCCAAGACCTCACTCA	0.423000													41	53					1.68508e-10	1.92632e-10	0.111260	1	0
ARHGAP5	394	broad.mit.edu	37	14	32562802	32562802	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:32562802A>G	ENST00000345122.3	+	2	3242	c.2927A>G	c.(2926-2928)aAt>aGt	p.N976S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N976S|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N976S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N976S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	976					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.N976S(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTCCCTATAATAACTACCCT	0.393000													32	62					0	0	0.173368	0	0
ADCY2	108	broad.mit.edu	37	5	7727279	7727279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:7727279C>A	ENST00000338316.4	+	14	1865	c.1776C>A	c.(1774-1776)taC>taA	p.Y592*	ADCY2_ENST00000537121.1_Nonsense_Mutation_p.Y412*|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	592					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.Y592*(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCCTCAGTACCGGGCCACGG	0.512000													21	40					1.9806e-07	2.17485e-07	0.069288	1	0
SEPT5	5413	broad.mit.edu	37	22	19707146	19707146	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:19707146G>T	ENST00000438754.2	+	2	383	c.103G>T	c.(103-105)Ggc>Tgc	p.G35C	SEPT5_ENST00000455784.2_Missense_Mutation_p.G26C|SEPT5_ENST00000383045.3_Missense_Mutation_p.G35C|SEPT5_ENST00000406395.1_Missense_Mutation_p.G26C	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	26					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G26C(1)		lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAGTACGTGGGCTTCGCCAC	0.567000													21	30					5.45024e-15	6.658e-15	0.083992	1	0
TCHHL1	126637	broad.mit.edu	37	1	152057805	152057805	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:152057805C>A	ENST00000368806.1	-	3	2417	c.2353G>T	c.(2353-2355)Gac>Tac	p.D785Y		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	785							calcium ion binding	p.D785Y(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTCTTGGTCTCTCTGCATC	0.488000													58	96					3.7469e-33	5.38958e-33	0.139131	1	0
BEND3	57673	broad.mit.edu	37	6	107391998	107391998	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:107391998C>A	ENST00000429433.2	-	5	1046	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	BEND3_ENST00000369042.1_Missense_Mutation_p.G133C	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	133								p.G133C(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGCGAGATGCCATACAGAGGC	0.592000													79	108					9.37156e-40	1.38847e-39	0.139131	1	0
ITPR2	3709	broad.mit.edu	37	12	26784866	26784866	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:26784866C>A	ENST00000381340.3	-	22	3283	c.2867G>T	c.(2866-2868)gGg>gTg	p.G956V	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	956					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.G956V(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGTGGGGCTCCCTTGCTTGCT	0.552000													93	120					1.77486e-58	2.76542e-58	0.139131	1	0
GCK	2645	broad.mit.edu	37	7	44190624	44190624	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:44190624C>A	ENST00000403799.3	-	4	883	c.414G>T	c.(412-414)caG>caT	p.Q138H	GCK_ENST00000345378.2_Missense_Mutation_p.Q139H|GCK_ENST00000395796.3_Missense_Mutation_p.Q137H|GCK_ENST00000437084.1_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	138					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.Q138H(1)|p.Q139H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGTGTTTCATCTGATGCTTGT	0.577000													38	48					7.63091e-17	9.53644e-17	0.098360	1	0
HOXB7	3217	broad.mit.edu	37	17	46685385	46685385	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:46685385T>C	ENST00000239165.7	-	2	571	c.473A>G	c.(472-474)tAc>tGc	p.Y158C	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	158						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y158C(1)		NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GTAGCGATTGTAGTGAAATTC	0.557000													52	53					0	0	0.139131	0	0
KMT2C	58508	broad.mit.edu	37	7	151962241	151962241	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:151962241G>T	ENST00000355193.2	-	8	1284	c.1066C>A	c.(1066-1068)Cag>Aag	p.Q356K	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q356K					lysine (K)-specific methyltransferase 2C									p.Q356K(4)									CAAAAGAACTGATCTAAGAGG	0.413000													20	189					1.5548e-18	1.98415e-18	0.108266	1	0
PCLO	27445	broad.mit.edu	37	7	82581186	82581186	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:82581186C>A	ENST00000423517.2	-	5	9420	c.9083G>T	c.(9082-9084)gGg>gTg	p.G3028V	PCLO_ENST00000333891.8_Missense_Mutation_p.G3028V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2959					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G3028V(2)|p.G2959V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTAACTCTCCCTGAAGTCAG	0.378000													26	48					7.07758e-08	7.81123e-08	0.099896	1	0
PRG4	10216	broad.mit.edu	37	1	186276051	186276051	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:186276051C>T	ENST00000445192.2	+	7	1245	c.1200C>T	c.(1198-1200)acC>acT	p.T400T	PRG4_ENST00000367486.3_Silent_p.T357T|PRG4_ENST00000367485.4_Silent_p.T307T|PRG4_ENST00000367483.4_Silent_p.T359T|PRG4_ENST00000367484.3_Silent_p.T359T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	400	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T400T(3)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.647000													3	80					0	0	0.115264	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899611	128899611	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:128899611C>A	ENST00000435159.2	+	2	420	c.420C>A	c.(418-420)gtC>gtA	p.V140V		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	140						integral to membrane		p.V140V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGGACAAAGTCTACCTGAGCC	0.502000													3	12					0.00909568	0.00924033	0.150653	1	0
DNAJA2	10294	broad.mit.edu	37	16	46992959	46992959	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:46992959C>A	ENST00000317089.5	-	8	1218	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	335					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.V335L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GGAAACTGCACATCAAACTTT	0.383000													31	34					3.90053e-15	4.79182e-15	0.163468	1	0
DMRT3	58524	broad.mit.edu	37	9	990207	990207	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:990207C>T	ENST00000190165.2	+	2	659	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	207					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.V207V(1)|p.V70V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GATACGCTGTCCAGAAAAACG	0.597000													37	35					0	0	0.235728	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874895	20874895	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:20874895C>A	ENST00000381552.1	+	8	1301	c.933C>A	c.(931-933)tcC>tcA	p.S311S	SLCO1C1_ENST00000266509.2_Silent_p.S311S|SLCO1C1_ENST00000545102.1_Silent_p.S193S|SLCO1C1_ENST00000545604.1_Silent_p.S311S|SLCO1C1_ENST00000540354.1_Silent_p.S262S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	311					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.S311S(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTAATTCTTCCTCTGAGAAAT	0.373000													23	24					2.39556e-15	2.94964e-15	0.076483	1	0
TDP1	55775	broad.mit.edu	37	14	90429553	90429553	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:90429553C>T	ENST00000335725.4	+	3	345	c.95C>T	c.(94-96)tCt>tTt	p.S32F	TDP1_ENST00000555880.1_Missense_Mutation_p.S32F|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.S32F|TDP1_ENST00000393452.3_Missense_Mutation_p.S32F	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	32					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.S32F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCTACCTCTTCTCTTCTCTGT	0.473000								Repair of DNA-protein crosslinks					74	81					0	0	0.139131	0	0
KRI1	65095	broad.mit.edu	37	19	10668695	10668695	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:10668695C>T	ENST00000312962.6	-	14	1349	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	KRI1_ENST00000361821.5_Missense_Mutation_p.G440R	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	444								p.G444R(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTCCAGTCTCCCTCCTGCTCA	0.652000													14	24					0	0	0.175082	0	0
C12orf43	64897	broad.mit.edu	37	12	121442169	121442169	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:121442169C>T	ENST00000445832.3	-	6	588	c.486G>A	c.(484-486)aaG>aaA	p.K162K	C12orf43_ENST00000366211.2_Silent_p.K151K|C12orf43_ENST00000539736.1_Silent_p.K182K|C12orf43_ENST00000288757.3_Silent_p.K192K|C12orf43_ENST00000537817.1_Silent_p.K193K|C12orf43_ENST00000536407.2_Intron			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	192								p.K192K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTTTTTCAACTTCCTTTTCT	0.592000													62	88					0	0	0.139131	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283238	52283238	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:52283238G>C	ENST00000301190.6	+	4	836	c.609G>C	c.(607-609)gcG>gcC	p.A203A	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Silent_p.A68A|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	68								p.A203A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGCTCACGGCGTTAATGAAGG	0.662000													23	35					0	0	0.116897	0	0
HEATR1	55127	broad.mit.edu	37	1	236719179	236719179	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:236719179C>T	ENST00000366582.3	-	39	5689	c.5575G>A	c.(5575-5577)Gag>Aag	p.E1859K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1778K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1859					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.E1859K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAGGTGAGCTCTTCCTTCTTC	0.483000													59	187					0	0	0.139131	0	0
DENND2A	27147	broad.mit.edu	37	7	140246714	140246714	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:140246714C>T	ENST00000275884.6	-	12	2480	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q	DENND2A_ENST00000492720.1_Missense_Mutation_p.R688Q|DENND2A_ENST00000496613.1_Missense_Mutation_p.R688Q|DENND2A_ENST00000537639.1_Missense_Mutation_p.R688Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	688	DENN.							p.R688Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGAGATGCCTCGTCTTTTTTC	0.517000													18	38					0	0	0.204396	0	0
FAM168B	130074	broad.mit.edu	37	2	131829459	131829459	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:131829459C>A	ENST00000409185.1	-	3	230	c.123G>T	c.(121-123)atG>atT	p.M41I	FAM168B_ENST00000389915.3_Missense_Mutation_p.M41I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	41								p.M41I(1)		endometrium(3)|lung(2)	5						CTCCAGGATACATGTTAGGAG	0.463000													24	37					1.84765e-07	2.03092e-07	0.193644	1	0
NDST4	64579	broad.mit.edu	37	4	115773903	115773903	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:115773903T>A	ENST00000264363.2	-	8	2472	c.1794A>T	c.(1792-1794)ctA>ctT	p.L598L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	598	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L598L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACCAATTACTAGAAATTTTG	0.318000													10	25					0	0	0.080935	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069200	161069200	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:161069200C>G	ENST00000392192.2	+	2	734	c.592C>G	c.(592-594)Cct>Gct	p.P198A	KLHDC9_ENST00000368011.4_Missense_Mutation_p.P198A|KLHDC9_ENST00000490724.2_3'UTR	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	198								p.P198A(2)		lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCTCCAAACTCCTGGACCCCA	0.517000													51	111					0	0	0.139131	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060907	35060907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:35060907G>T	ENST00000373913.3	+	3	1267	c.787G>T	c.(787-789)Gag>Tag	p.E263*	DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.E263*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.E263*|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.E263*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	263					cell-cell signaling	membrane	protein binding	p.E263*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAACACTACTGAGCTGACTGC	0.627000													30	45					7.01153e-11	8.10919e-11	0.125774	1	0
CENPF	1063	broad.mit.edu	37	1	214818975	214818975	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214818975C>G	ENST00000366955.3	+	13	6230	c.6062C>G	c.(6061-6063)tCt>tGt	p.S2021C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2117					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.S2021C(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACTTTGTCCTCTGATGTGAGT	0.458000													25	133					0	0	0.091800	0	0
MTF1	4520	broad.mit.edu	37	1	38322977	38322977	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:38322977A>C	ENST00000373036.4	-	2	494	c.354T>G	c.(352-354)atT>atG	p.I118M		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	118						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	p.I118M(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGCACCTTCAATATTTCTTG	0.448000													51	80					0	0	0.139131	0	0
MED13	9969	broad.mit.edu	37	17	60130024	60130024	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:60130024C>T	ENST00000397786.2	-	3	420	c.344G>A	c.(343-345)tGc>tAc	p.C115Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	115					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.C115Y(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGAGTACGGCATTCATAGGA	0.358000													91	113					0	0	0.139131	0	0
CCDC39	339829	broad.mit.edu	37	3	180397253	180397253	+	Translation_Start_Site	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:180397253C>T	ENST00000442201.2	-	0	35				CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGCCCAGGCACCTGCACAGTG	0.582000													19	115					0	0	0.175082	0	0
VAC14	55697	broad.mit.edu	37	16	70819711	70819711	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:70819711T>A	ENST00000261776.5	-	3	577	c.317A>T	c.(316-318)gAc>gTc	p.D106V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	106					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.D106V(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CAGCCTGCTGTCTGCATCATT	0.592000													4	9					0	0	0.217242	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963616	7963616	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:7963616A>C	ENST00000306708.6	+	3	310	c.209A>C	c.(208-210)cAg>cCg	p.Q70P		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	70						integral to membrane		p.Q70P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCCCCGTGCCAGCAATTGCTG	0.507000													47	149					0	0	0.124865	0	0
C3orf30	152405	broad.mit.edu	37	3	118865123	118865123	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:118865123C>A	ENST00000295622.1	+	1	127	c.87C>A	c.(85-87)ggC>ggA	p.G29G		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	29								p.G29G(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACACTAAGGGCCAGGAAGAAG	0.572000													28	17					1.80694e-10	2.06345e-10	0.144211	1	0
SLC18A1	6570	broad.mit.edu	37	8	20004895	20004895	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:20004895G>T	ENST00000440926.1	-	16	1808	c.1338C>A	c.(1336-1338)tcC>tcA	p.S446S	SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000519026.1_Silent_p.S414S|SLC18A1_ENST00000265808.7_Silent_p.S414S|SLC18A1_ENST00000276373.5_Silent_p.S446S	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	446					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	p.S446S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CACCACCGGTGGATGGACCTG	0.537000													25	36					5.45024e-15	6.658e-15	0.083992	1	0
TMEM132B	114795	broad.mit.edu	37	12	126137174	126137174	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:126137174A>T	ENST00000299308.3	+	8	2095	c.2087A>T	c.(2086-2088)cAg>cTg	p.Q696L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q208L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	696						integral to membrane		p.Q696L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGTCCCCACAGCAGGTGAGC	0.607000													24	56					0	0	0.116897	0	0
MTUS2	23281	broad.mit.edu	37	13	29608211	29608211	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:29608211C>A	ENST00000431530.3	+	2	2483	c.2425C>A	c.(2425-2427)Cca>Aca	p.P809T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	799	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.P809T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGCCATCCACCCACCAGGACC	0.507000													16	9					4.7546e-09	5.31771e-09	0.146539	1	0
UMOD	7369	broad.mit.edu	37	16	20359605	20359605	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:20359605C>A	ENST00000396134.2	-	5	1135	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y	UMOD_ENST00000302509.4_Missense_Mutation_p.D305Y|UMOD_ENST00000570689.1_Missense_Mutation_p.D305Y|UMOD_ENST00000424589.1_Missense_Mutation_p.D338Y|UMOD_ENST00000396138.4_Missense_Mutation_p.D354Y|UMOD_ENST00000396142.2_Missense_Mutation_p.D305Y	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	305	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.D305Y(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATTTGCAGTCCTCGTCTATA	0.562000													69	99					2.22156e-40	3.30948e-40	0.139131	1	0
OBSCN	84033	broad.mit.edu	37	1	228492083	228492083	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:228492083G>A	ENST00000570156.2	+	53	14156	c.14082G>A	c.(14080-14082)ctG>ctA	p.L4694L	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.L1384L|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3737	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.L4319L(1)|p.L4548L(1)|p.L4449L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGTGAACTGAGCAAGGTGG	0.597000													61	123					0	0	0.139131	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797875	31797875	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:31797875G>A	ENST00000390690.2	-	1	411	c.356C>T	c.(355-357)tCa>tTa	p.S119L		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	119						intermediate filament		p.S119L(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ACAGCCCAGTGAGGAGCAGCT	0.483000													20	25					0	0	0.204396	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182933	82182933	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:82182933C>A	ENST00000258169.4	-	4	381	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.D82Y	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	111					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	p.D111Y(1)		endometrium(1)|large_intestine(1)|lung(3)	5						ATCTCTTCATCTGACACATCA	0.458000													78	107					1.91123e-38	2.81246e-38	0.139131	1	0
PPFIA4	8497	broad.mit.edu	37	1	203013218	203013218	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:203013218G>A	ENST00000367240.2	+	4	1023	c.496G>A	c.(496-498)Gag>Aag	p.E166K	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E166K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0					cell communication	cell surface|cytoplasm	protein binding	p.E313K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCCCTGGATGAGAAGGTGCC	0.612000													4	47					0	0	0.150653	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555172	76555172	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:76555172T>A	ENST00000307431.8	+	17	2883	c.2498T>A	c.(2497-2499)tTg>tAg	p.L833*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.L785*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.L761*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.L837*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	834	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L833*(1)|p.L761*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGAGAACTTGGGGATTGCT	0.368000													75	86					0	0	0.139131	0	0
MAD2L2	10459	broad.mit.edu	37	1	11734865	11734865	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:11734865A>G	ENST00000235310.3	-	11	1531	c.603T>C	c.(601-603)ctT>ctC	p.L201L	MAD2L2_ENST00000376667.3_Silent_p.L201L|MAD2L2_ENST00000376669.5_Silent_p.L214L|MAD2L2_ENST00000376672.1_Silent_p.L214L|MAD2L2_ENST00000376692.4_Silent_p.L201L			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	201	HORMA.|Mediates interaction with ipaB.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	p.L201L(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCACGTAAAGCTGCATCT	0.612000								DNA polymerases (catalytic subunits)					31	47					0	0	0.144211	0	0
KIF4B	285643	broad.mit.edu	37	5	154395249	154395249	+	Silent	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:154395249T>C	ENST00000435029.4	+	1	1990	c.1830T>C	c.(1828-1830)gcT>gcC	p.A610A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	610					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.D611Y(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCAAATAGCTGATCTGAAGA	0.453000													57	59					0	0	0.139131	0	0
SLC29A1	2030	broad.mit.edu	37	6	44200166	44200166	+	Splice_Site	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:44200166G>A	ENST00000393841.1	+	12	1550		c.e12+1		SLC29A1_ENST00000371724.1_Splice_Site|SLC29A1_ENST00000371731.1_Splice_Site|SLC29A1_ENST00000393844.1_Splice_Site|SLC29A1_ENST00000371740.5_Splice_Site|SLC29A1_ENST00000427851.2_Splice_Site|SLC29A1_ENST00000371713.1_Splice_Site|SLC29A1_ENST00000371708.1_Splice_Site|SLC29A1_ENST00000313248.7_Splice_Site|SLC29A1_ENST00000371755.3_Splice_Site	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	ATTCATGTGGGTAAGTGGAGG	0.512000													46	60					0	0	0.139131	0	0
EMILIN1	11117	broad.mit.edu	37	2	27303608	27303608	+	Missense_Mutation	SNP	G	G	A	rs140139205		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:27303608G>A	ENST00000380320.4	+	3	798	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	100	EMI.				cell adhesion	collagen		p.R100H(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTACCGCCGCTTCCTCCGC	0.627000											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	4					0	0	0.047766	0	0
ACAP3	116983	broad.mit.edu	37	1	1233224	1233224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:1233224C>A	ENST00000354700.5	-	14	1308	c.1106G>T	c.(1105-1107)aGc>aTc	p.S369I	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.S327I	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	369					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.S327I(1)|p.S369I(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						ACTGTCAGGGCTCTCGCGGTA	0.687000													19	4					6.02846e-25	8.1328e-25	0.183431	1	0
IFNA7	3444	broad.mit.edu	37	9	21201973	21201973	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:21201973C>G	ENST00000239347.3	-	1	231	c.192G>C	c.(190-192)gaG>gaC	p.E64D		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	64					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.E64D(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CATCAAACTCCTCCTCTGGGA	0.498000													54	73					0	0	0.139131	0	0
SELP	6403	broad.mit.edu	37	1	169572376	169572376	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:169572376A>G	ENST00000263686.6	-	10	1630	c.1593T>C	c.(1591-1593)agT>agC	p.S531S	SELP_ENST00000367794.2_Silent_p.S469S|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Silent_p.S469S|SELP_ENST00000367788.2_Silent_p.S469S|SELP_ENST00000367786.2_Silent_p.S469S|SELP_ENST00000367791.2_Silent_p.S407S|SELP_ENST00000458599.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	531	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.S531S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGGATTTATAACTGGAACTTC	0.473000													90	67					0	0	0.139131	0	0
PYDC2	152138	broad.mit.edu	37	3	191179171	191179171	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:191179171C>A	ENST00000518817.1	+	1	220	c.220C>A	c.(220-222)Cag>Aag	p.Q74K		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	74	DAPIN.					cytoplasm|nucleus		p.Q74K(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GGCAGCCATCCAGGTCTTTGA	0.532000													98	81					2.87887e-39	4.25368e-39	0.139131	1	0
ZNF689	115509	broad.mit.edu	37	16	30616690	30616690	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:30616690C>T	ENST00000287461.3	-	3	735	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R133Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCTGGGCCTCCGGCCTCGCTT	0.572000													77	211					0	0	0.139131	0	0
DACT1	51339	broad.mit.edu	37	14	59112838	59112838	+	Silent	SNP	G	G	A	rs145184753		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:59112838G>A	ENST00000395153.3	+	4	1533	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	DACT1_ENST00000395151.3_Silent_p.E218E|DACT1_ENST00000541264.2_Silent_p.E218E|DACT1_ENST00000556859.1_Silent_p.E218E|DACT1_ENST00000335867.4_Silent_p.E499E	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	499					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.E499E(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGCCGCAGGAGAACAAAGTTG	0.607000													55	96					0	0	0.139131	0	0
GNAI1	2770	broad.mit.edu	37	7	79818431	79818431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:79818431G>T	ENST00000351004.3	+	3	560	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	GNAI1_ENST00000457358.2_Nonsense_Mutation_p.E11*|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	63					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	p.E63*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TGGTTATTCAGAAGAGGAGTG	0.363000													15	16					3.45872e-05	3.62215e-05	0.146539	1	0
SYNE1	23345	broad.mit.edu	37	6	152737697	152737697	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:152737697C>A	ENST00000367255.5	-	41	6476	c.5875G>T	c.(5875-5877)Gta>Tta	p.V1959L	SYNE1_ENST00000341594.5_Missense_Mutation_p.V1996L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V1959L|SYNE1_ENST00000423061.1_Missense_Mutation_p.V1966L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V1966L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1959					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.V1959L(2)|p.V1966L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCTCTCTACCTCTCCACAG	0.502000										HNSCC(10;0.0054)			107	155					1.73885e-55	2.69385e-55	0.139131	1	0
FOXK1	221937	broad.mit.edu	37	7	4780536	4780536	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:4780536G>T	ENST00000328914.4	+	2	628	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S	FOXK1_ENST00000446823.1_Missense_Mutation_p.A47S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	210					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.A210S(1)|p.A36S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAAAGAAGAGGCCCCAGCCTC	0.632000													158	178					4.78454e-111	7.5965e-111	0.139131	1	0
TJP1	7082	broad.mit.edu	37	15	30010302	30010302	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:30010302T>G	ENST00000346128.6	-	22	4371	c.3897A>C	c.(3895-3897)aaA>aaC	p.K1299N	TJP1_ENST00000400011.2_Missense_Mutation_p.K1223N|TJP1_ENST00000356107.6_Missense_Mutation_p.K1299N|TJP1_ENST00000545208.2_Missense_Mutation_p.K1219N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1299					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.K1299N(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACCTGAAGGTTTAGATGCTA	0.368000													153	38					0	0	0.139131	0	0
LMNA	4000	broad.mit.edu	37	1	156100423	156100423	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:156100423G>A	ENST00000368300.4	+	2	584	c.372G>A	c.(370-372)gaG>gaA	p.E124E	LMNA_ENST00000392353.3_Silent_p.E43E|LMNA_ENST00000361308.4_Silent_p.E124E|LMNA_ENST00000347559.2_Silent_p.E124E|LMNA_ENST00000448611.2_Silent_p.E12E|LMNA_ENST00000473598.2_Silent_p.E25E|LMNA_ENST00000368299.3_Silent_p.E124E|LMNA_ENST00000368301.2_Silent_p.E124E|LMNA_ENST00000368297.1_Silent_p.E43E	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	124	Coil 1B.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	p.E124E(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CCAAGAAGGAGGGTGACCTGA	0.572000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	57					0	0	0.144211	0	0
TDO2	6999	broad.mit.edu	37	4	156841118	156841118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:156841118C>A	ENST00000536354.2	+	12	1261	c.1197C>A	c.(1195-1197)taC>taA	p.Y399*		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	399					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.Y399*(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	ATAGCTCCTACTTCAGCAGTG	0.348000													30	24					2.80507e-11	3.26857e-11	0.163468	1	0
BRINP3	339479	broad.mit.edu	37	1	190067209	190067209	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:190067209T>G	ENST00000367462.3	-	8	2471	c.2240A>C	c.(2239-2241)cAg>cCg	p.Q747P	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.Q645P	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		747						extracellular region		p.Q747P(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATTAAACGCCTGCAGAGCAGA	0.438000													73	177					0	0	0.139131	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283640	101283640	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:101283640C>G	ENST00000309922.6	+	2	169	c.15C>G	c.(13-15)ctC>ctG	p.L5L		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)									p.L5L(1)									CTGCTTTCCTCAAAATGAGTG	0.323000													17	427					0	0	0.189662	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762625	81762625	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:81762625C>G	ENST00000550584.2	-	12	1656	c.1361G>C	c.(1360-1362)aGa>aCa	p.R454T	PPFIA2_ENST00000541570.2_Missense_Mutation_p.R21T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R454T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R454T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R380T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R301T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R454T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R436T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R355T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R436T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	380								p.R454T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATTTTCTCTCTTTGCCTAGC	0.303000													22	35					0	0	0.076483	0	0
CD5L	922	broad.mit.edu	37	1	157804200	157804200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:157804200C>A	ENST00000368174.4	-	4	811	c.715G>T	c.(715-717)Gaa>Taa	p.E239*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	239	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.E239*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCATTACCTTCACATTCGACC	0.453000													30	19					1.99505e-19	2.55498e-19	0.163468	1	0
PDK2	5164	broad.mit.edu	37	17	48184161	48184161	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:48184161T>C	ENST00000503176.1	+	5	682	c.521T>C	c.(520-522)cTc>cCc	p.L174P	PDK2_ENST00000007708.3_Missense_Mutation_p.L110P	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	174	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.L174P(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CCTGCAGCCCTCATCTTTGAT	0.592000									Autosomal Dominant Polycystic Kidney Disease				3	85					0	0	0.115264	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901923	186901923	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:186901923G>T	ENST00000367466.3	+	8	739	c.587G>T	c.(586-588)gGt>gTt	p.G196V	PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.G136V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	196	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.G196V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTGGGTTCAGGTGGGGGTTTC	0.448000													69	147					5.52034e-35	8.00413e-35	0.139131	1	0
CLDN17	26285	broad.mit.edu	37	21	31538455	31538455	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:31538455G>C	ENST00000286808.3	-	1	516	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	161					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L161V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCTGCTCCCAGCTCTCGTTTC	0.517000													30	30					0	0	0.125774	0	0
TTLL2	83887	broad.mit.edu	37	6	167753987	167753987	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:167753987A>G	ENST00000239587.5	+	3	687	c.599A>G	c.(598-600)cAg>cGg	p.Q200R		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	200	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.Q200R(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAGGAGAGGCAGATGCTGGGC	0.473000													42	69					0	0	0.139131	0	0
TPH1	7166	broad.mit.edu	37	11	18057531	18057531	+	Silent	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:18057531T>G	ENST00000250018.2	-	2	838	c.276A>C	c.(274-276)ccA>ccC	p.P92P	TPH1_ENST00000341556.2_Silent_p.P92P	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	92	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.P92P(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TAAAATTATCTGGTAGATTCA	0.318000													23	25					0	0	0.083992	0	0
KMT2C	58508	broad.mit.edu	37	7	151970897	151970897	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:151970897C>A	ENST00000355193.2	-	7	1123	c.905G>T	c.(904-906)tGt>tTt	p.C302F	KMT2C_ENST00000262189.6_Missense_Mutation_p.C302F					lysine (K)-specific methyltransferase 2C									p.C302F(2)									CATCTGGGTACATTTCTCTTC	0.433000													7	112					0.000673444	0.000693232	0.069234	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720708	140720708	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140720708C>G	ENST00000394576.2	+	1	2170	c.2170C>G	c.(2170-2172)Ctg>Gtg	p.L724V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.L724V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCACGCCTGCTGCAGGC	0.642000													55	75					0	0	0.139131	0	0
ERCC6	2074	broad.mit.edu	37	10	50690785	50690785	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:50690785T>A	ENST00000355832.5	-	10	2195	c.2117A>T	c.(2116-2118)cAg>cTg	p.Q706L	ERCC6_ENST00000542458.1_Missense_Mutation_p.Q76L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	706					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.Q706L(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACGGAGAACTGCTCCATAAA	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)					26	49					0	0	0.108266	0	0
CHD2	1106	broad.mit.edu	37	15	93492225	93492225	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:93492225C>G	ENST00000394196.4	+	13	2489	c.1421C>G	c.(1420-1422)cCt>cGt	p.P474R	CHD2_ENST00000536619.1_Missense_Mutation_p.P487R|CHD2_ENST00000420239.2_Missense_Mutation_p.P474R|CHD2_ENST00000557381.1_Missense_Mutation_p.P474R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	474					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.P474R(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAACAACCTGCATATTTA	0.408000													92	96					0	0	0.139131	0	0
NLRP14	338323	broad.mit.edu	37	11	7091678	7091678	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:7091678A>T	ENST00000299481.4	+	11	3483	c.3137A>T	c.(3136-3138)cAa>cTa	p.Q1046L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1046					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.Q1046L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTAAACTACAAGTTCTAGGG	0.388000													35	49					0	0	0.203993	0	0
TTN	7273	broad.mit.edu	37	2	179441840	179441840	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179441840G>A	ENST00000589042.1	-	324	69446	c.69222C>T	c.(69220-69222)tcC>tcT	p.S23074S	TTN_ENST00000460472.2_Silent_p.S14009S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.S21433S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S14134S|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Silent_p.S20506S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.S14201S|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21433			P -> L.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S14134S(1)|p.S20504S(1)|p.S20506S(1)|p.S14201S(1)|p.S14009S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTATATAGGACTTAATTG	0.448000													35	47					0	0	0.183431	0	0
AP3B1	8546	broad.mit.edu	37	5	77385316	77385316	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:77385316T>A	ENST00000255194.6	-	22	2653	c.2478A>T	c.(2476-2478)ccA>ccT	p.P826P	AP3B1_ENST00000519295.1_Silent_p.P777P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	826					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	p.P826P(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAGTGGATACTGGGTTAACTG	0.353000									Hermansky-Pudlak syndrome				22	33					0	0	0.076483	0	0
NT5E	4907	broad.mit.edu	37	6	86176908	86176908	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:86176908T>C	ENST00000257770.3	+	2	519	c.470T>C	c.(469-471)cTt>cCt	p.L157P	NT5E_ENST00000369651.3_Missense_Mutation_p.L157P|NT5E_ENST00000369646.3_Missense_Mutation_p.L157P	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	157					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	p.L157P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ATATCAGGACTTTATTTGCCA	0.418000													36	41					0	0	0.214465	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654687	31654687	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:31654687G>T	ENST00000340345.4	-	1	589	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament	structural molecule activity	p.V188V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAATGGTGAGACGTAGCTGG	0.418000													58	106					4.6707e-30	6.58751e-30	0.139131	1	0
EPS15	2060	broad.mit.edu	37	1	51875246	51875246	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:51875246G>T	ENST00000371733.3	-	14	1332	c.1236C>A	c.(1234-1236)ctC>ctA	p.L412L	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Silent_p.L412L|EPS15_ENST00000396122.4_Silent_p.L89L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	412					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)|p.L412L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGACTTCCTTGAGTTGCTCCT	0.483000			T	MLL	ALL								31	59					1.45844e-13	1.75012e-13	0.173368	1	0
IGSF21	84966	broad.mit.edu	37	1	18692014	18692014	+	Missense_Mutation	SNP	A	A	T	rs140063076		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:18692014A>T	ENST00000251296.1	+	6	1221	c.838A>T	c.(838-840)Agc>Tgc	p.S280C		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	280						extracellular region		p.S280C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CTGGGTCCACAGCGCCGAGCC	0.637000													59	94					0	0	0.139131	0	0
SRRM2	23524	broad.mit.edu	37	16	2815031	2815031	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:2815031C>T	ENST00000301740.8	+	11	5051	c.4502C>T	c.(4501-4503)tCa>tTa	p.S1501L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1501	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.S1501L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGTTCTCCATCATCCCCAGAG	0.522000													128	187					0	0	0.139131	0	0
ADCY5	111	broad.mit.edu	37	3	123038571	123038571	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:123038571G>A	ENST00000462833.1	-	10	3418	c.2206C>T	c.(2206-2208)Cac>Tac	p.H736Y	ADCY5_ENST00000309879.5_Missense_Mutation_p.H386Y|ADCY5_ENST00000491190.1_Missense_Mutation_p.H369Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	736					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.H736Y(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TTGCGGACGTGCTCAGACCGA	0.597000													20	59					0	0	0.219247	0	0
ICK	22858	broad.mit.edu	37	6	52871150	52871150	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:52871150C>T	ENST00000356971.3	-	14	2196	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	ICK_ENST00000350082.5_Silent_p.Q569Q	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	569					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.Q569Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GGTGTACCCTCTGCATAGCAG	0.408000													21	129					0	0	0.083992	0	0
COL4A4	1286	broad.mit.edu	37	2	228004926	228004926	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:228004926C>G	ENST00000396625.3	-	4	350	c.143G>C	c.(142-144)gGa>gCa	p.G48A	COL4A4_ENST00000329662.7_Missense_Mutation_p.G48A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	48	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G48A(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCTCTTCCTCCACAAGGACC	0.403000													18	45					0	0	0.091800	0	0
OXR1	55074	broad.mit.edu	37	8	107752601	107752601	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:107752601G>T	ENST00000445937.1	+	13	2374	c.2113G>T	c.(2113-2115)Ggc>Tgc	p.G705C	OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.G698C|OXR1_ENST00000449762.2_Missense_Mutation_p.G75C|OXR1_ENST00000452423.2_Missense_Mutation_p.G153C|OXR1_ENST00000531443.1_Missense_Mutation_p.G705C|OXR1_ENST00000517566.2_Missense_Mutation_p.G732C|OXR1_ENST00000442977.2_Missense_Mutation_p.G733C|OXR1_ENST00000297447.6_Missense_Mutation_p.G102C	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	733					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.G102C(1)|p.G733C(1)|p.G617C(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAGAACAATTGGCTATCCATG	0.383000													31	48					1.06801e-11	1.2539e-11	0.144211	1	0
GC	2638	broad.mit.edu	37	4	72623761	72623761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:72623761C>A	ENST00000273951.8	-	7	1172	c.829G>T	c.(829-831)Gag>Tag	p.E277*	GC_ENST00000513476.1_Nonsense_Mutation_p.E277*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.E296*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	277	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.E296*(1)|p.E277*(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TGTCTTACCTCTTTGGCCATG	0.423000													20	38					1.10923e-09	1.25613e-09	0.076483	1	0
GPR85	54329	broad.mit.edu	37	7	112724477	112724477	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:112724477C>A	ENST00000501255.2	-	3	923	c.300G>T	c.(298-300)ctG>ctT	p.L100L	GPR85_ENST00000449591.1_Silent_p.L100L|GPR85_ENST00000297146.2_Silent_p.L100L|GPR85_ENST00000424100.1_Silent_p.L100L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	100						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L100L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACAAAACCCCCAGAAAGGCAA	0.443000													39	80					6.68952e-21	8.70038e-21	0.131918	1	0
OR5K4	403278	broad.mit.edu	37	3	98072866	98072866	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:98072866A>T	ENST00000354924.2	+	1	169	c.169A>T	c.(169-171)Aca>Tca	p.T57S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T57S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCGTCTTCTCACACCAATGTA	0.468000													136	380					0	0	0.139131	0	0
TRPM8	79054	broad.mit.edu	37	2	234846051	234846051	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:234846051G>T	ENST00000324695.4	+	4	286	c.246G>T	c.(244-246)caG>caT	p.Q82H	TRPM8_ENST00000355722.4_Missense_Mutation_p.Q32H|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.Q5H	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	82						integral to membrane		p.Q82H(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGGCACCCAGATCAACCAAA	0.488000													68	78					4.46356e-37	6.55058e-37	0.139131	1	0
SLC14A2	8170	broad.mit.edu	37	18	43247870	43247870	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:43247870C>A	ENST00000255226.6	+	14	2606	c.1790C>A	c.(1789-1791)cCc>cAc	p.P597H	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P597H|SLC14A2_ENST00000589658.1_Missense_Mutation_p.P74H	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	597						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P597H(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGAACAACCCCCTCAGCGGC	0.567000													95	136					4.10057e-40	6.09196e-40	0.139131	1	0
NTF3	4908	broad.mit.edu	37	12	5603701	5603701	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:5603701C>A	ENST00000423158.3	+	2	572	c.360C>A	c.(358-360)agC>agA	p.S120R	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.S107R	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	107					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.S107R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TCCTGCTGAGCGACAGCACCC	0.632000													32	37					4.65686e-17	5.85342e-17	0.193644	1	0
FOXB2	442425	broad.mit.edu	37	9	79635143	79635143	+	Silent	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:79635143T>C	ENST00000376708.1	+	1	573	c.573T>C	c.(571-573)ccT>ccC	p.P191P		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	191					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P191P(2)		breast(1)|lung(8)|ovary(1)	10						CGCAGCCGCCTCCGCACCTCC	0.731000													5	17					0	0	0.038147	0	0
RUVBL2	10856	broad.mit.edu	37	19	49518853	49518853	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:49518853A>G	ENST00000413176.2	+	14	2289	c.1141A>G	c.(1141-1143)Atc>Gtc	p.I381V	RUVBL2_ENST00000601968.1_Silent_p.T337T|RUVBL2_ENST00000595090.1_Missense_Mutation_p.I426V			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	426					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	p.I426V(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGTGGATGACATCAAGCGGGT	0.587000													41	13					0	0	0.139131	0	0
ACER3	55331	broad.mit.edu	37	11	76709817	76709817	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:76709817G>C	ENST00000532485.1	+	7	553	c.449G>C	c.(448-450)gGa>gCa	p.G150A	ACER3_ENST00000526597.1_Missense_Mutation_p.G55A|ACER3_ENST00000544113.1_Missense_Mutation_p.G17A|ACER3_ENST00000533873.1_Missense_Mutation_p.G113A|ACER3_ENST00000538157.1_Missense_Mutation_p.G108A	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	150					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	p.G150A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						GTCATGTATGGAATGTTGGTC	0.338000													17	32					0	0	0.189662	0	0
IL27	246778	broad.mit.edu	37	16	28515337	28515337	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:28515337A>G	ENST00000356897.1	-	2	88	c.66T>C	c.(64-66)gtT>gtC	p.V22V		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	22					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	p.V22V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CACCAGCTTGAACCAGGAGCA	0.607000													30	37					0	0	0.173368	0	0
YEATS2	55689	broad.mit.edu	37	3	183474351	183474351	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:183474351C>T	ENST00000305135.5	+	12	1621	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	476					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.P476S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCACCATTGCCTCGAACCCC	0.443000													220	201					0	0	0.139131	0	0
OR4D2	124538	broad.mit.edu	37	17	56247335	56247335	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:56247335T>G	ENST00000545221.1	+	1	319	c.319T>G	c.(319-321)Ttg>Gtg	p.L107V		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L107V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTTCCACTTTTTGGGAGGTGC	0.527000													127	97					0	0	0.139131	0	0
DNAH5	1767	broad.mit.edu	37	5	13823414	13823414	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:13823414G>A	ENST00000265104.4	-	40	6749	c.6645C>T	c.(6643-6645)gaC>gaT	p.D2215D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2215					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D2215D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACCTGCCTTGTCCAGAAGAA	0.388000									Kartagener syndrome				66	83					0	0	0.139131	0	0
C1orf177	163747	broad.mit.edu	37	1	55277513	55277513	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:55277513A>T	ENST00000358193.3	+	5	581	c.527A>T	c.(526-528)tAc>tTc	p.Y176F	C1orf177_ENST00000371273.3_Missense_Mutation_p.Y176F	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	176								p.Y176F(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGTAACCCATACACCAAGCTG	0.587000													28	38					0	0	0.134883	0	0
C7	730	broad.mit.edu	37	5	40937675	40937675	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:40937675G>T	ENST00000313164.9	+	6	809	c.450G>T	c.(448-450)caG>caT	p.Q150H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	150	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.Q150H(1)					Ovarian(839;0.0112)				TCACTGGCCAGTTTAGGAACA	0.408000													9	18					1.49906e-05	1.58672e-05	0.119110	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123201727	123201727	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:123201727G>A	ENST00000349780.4	-	24	3851	c.3672C>T	c.(3670-3672)ttC>ttT	p.F1224F	CDK5RAP2_ENST00000359309.3_Silent_p.F1183F|CDK5RAP2_ENST00000360822.3_Silent_p.F1192F|CDK5RAP2_ENST00000360190.4_Silent_p.F1224F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1224					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.F1224F(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GGATCTCACTGAAAAGTTGCA	0.493000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	107					0	0	0.029380	0	0
ZNF343	79175	broad.mit.edu	37	20	2474173	2474173	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:2474173G>T	ENST00000278772.4	-	4	656	c.169C>A	c.(169-171)Caa>Aaa	p.Q57K	ZNF343_ENST00000358413.2_Missense_Mutation_p.Q57K|ZNF343_ENST00000381253.1_Missense_Mutation_p.Q57K|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.Q57K	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q57K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ACCACTATTTGGGCCTTTCCC	0.448000													32	27					6.05902e-23	8.11356e-23	0.193644	1	0
KCNV2	169522	broad.mit.edu	37	9	2717919	2717919	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:2717919C>T	ENST00000382082.3	+	1	418	c.180C>T	c.(178-180)gaC>gaT	p.D60D		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	60						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D60D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AAGACGAAGACGGCGAGGAGG	0.652000													59	100					0	0	0.139131	0	0
MEGF10	84466	broad.mit.edu	37	5	126783278	126783278	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:126783278G>A	ENST00000274473.6	+	22	3025	c.2758G>A	c.(2758-2760)Gct>Act	p.A920T	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.A920T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	920					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.A920T(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGTGGAAACGCTAATAGCCA	0.493000													44	58					0	0	0.139131	0	0
C14orf39	317761	broad.mit.edu	37	14	60903733	60903733	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:60903733C>A	ENST00000321731.3	-	18	1753	c.1594G>T	c.(1594-1596)Ggc>Tgc	p.G532C		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	532								p.G532C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AATGTAAAGCCATCTTCTCCT	0.313000													36	52					1.34996e-11	1.58322e-11	0.111260	1	0
FBN3	84467	broad.mit.edu	37	19	8138167	8138167	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:8138167C>A	ENST00000600128.1	-	62	8131	c.7717G>T	c.(7717-7719)Gcc>Tcc	p.A2573S	FBN3_ENST00000270509.2_Missense_Mutation_p.A2573S|FBN3_ENST00000601739.1_Missense_Mutation_p.A2573S			Q75N90	FBN3_HUMAN	fibrillin 3	2573	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A2573S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCGACAGGGCACACTCATTC	0.642000													18	14					3.32936e-07	3.6302e-07	0.175082	1	0
DLL1	28514	broad.mit.edu	37	6	170592416	170592416	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:170592416C>A	ENST00000366756.3	-	9	2284	c.1951G>T	c.(1951-1953)Gac>Tac	p.D651Y		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	651					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.D651Y(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		ACGGCGGTGTCGTCACCCTTG	0.657000													37	45					2.66277e-13	3.18126e-13	0.246493	1	0
CHD1L	9557	broad.mit.edu	37	1	146758077	146758077	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:146758077G>A	ENST00000369258.4	+	18	2141	c.2121G>A	c.(2119-2121)ctG>ctA	p.L707L	CHD1L_ENST00000431239.1_Silent_p.L613L|CHD1L_ENST00000361293.5_Silent_p.L426L|CHD1L_ENST00000369259.3_Silent_p.L503L|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	707	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.D708Y(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTGCTGAGCTGGATTACCAAG	0.562000													65	100					0	0	0.139131	0	0
THSD7A	221981	broad.mit.edu	37	7	11468641	11468641	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:11468641G>A	ENST00000423059.3	-	14	3427	c.3176C>T	c.(3175-3177)tCt>tTt	p.S1059F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1059	TSP type-1 11.					integral to membrane		p.S1059F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGCCATTTAGAACGAACCTT	0.507000										HNSCC(18;0.044)			101	180					0	0	0.139131	0	0
RP11-467H10.2	0	broad.mit.edu	37	7	76682356	76682356	+	RNA	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:76682356G>T	ENST00000459742.1	+	0	58																											CTGGAACAGGGCTATCTGAGA	0.587000													25	96					1.42033e-22	1.89261e-22	0.203993	1	0
SPTLC3	55304	broad.mit.edu	37	20	13029632	13029632	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:13029632G>C	ENST00000399002.2	+	2	431	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E53Q|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	53					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.E26Q(1)|p.E53Q(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTCATTGTTGAATCGTTTGA	0.373000													42	125					0	0	0.139131	0	0
OPTN	10133	broad.mit.edu	37	10	13154609	13154609	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:13154609G>T	ENST00000378748.3	+	6	888	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	OPTN_ENST00000378757.2_Missense_Mutation_p.D176Y|OPTN_ENST00000378752.3_Missense_Mutation_p.D176Y|OPTN_ENST00000378747.3_Missense_Mutation_p.D176Y|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378764.2_Missense_Mutation_p.D176Y|OPTN_ENST00000263036.5_Missense_Mutation_p.D176Y	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	176	Interaction with Rab8.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	p.D176Y(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCCTCAGAAGATTCCTTTGT	0.463000													64	95					1.49552e-23	2.00511e-23	0.139131	1	0
BBS10	79738	broad.mit.edu	37	12	76739974	76739974	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:76739974A>T	ENST00000393262.3	-	2	1874	c.1791T>A	c.(1789-1791)ggT>ggA	p.G597G		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	597					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.G597G(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GCAAAACACAACCAGCTGGCA	0.383000									Bardet-Biedl syndrome				50	53					0	0	0.139131	0	0
DNAH10	196385	broad.mit.edu	37	12	124360011	124360011	+	Silent	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:124360011T>C	ENST00000409039.3	+	46	7843	c.7818T>C	c.(7816-7818)taT>taC	p.Y2606Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2606	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y2606Y(1)|p.Y1198Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTTAATTTATTCCTCCATCC	0.448000													40	60					0	0	0.124865	0	0
C4orf27	54969	broad.mit.edu	37	4	170652995	170652995	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:170652995C>G	ENST00000393381.2	-	7	844	c.769G>C	c.(769-771)Gag>Cag	p.E257Q		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	257						nucleus		p.E257Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTGCAGCCTCAACTATTGTC	0.353000													18	46					0	0	0.219247	0	0
ZNF536	9745	broad.mit.edu	37	19	30935922	30935922	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:30935922A>T	ENST00000355537.3	+	2	1600	c.1453A>T	c.(1453-1455)Aag>Tag	p.K485*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.K485*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGAGGGGGACAAGCACTCCCT	0.657000													41	56					0	0	0.117977	0	0
NUP205	23165	broad.mit.edu	37	7	135290909	135290909	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:135290909T>C	ENST00000285968.6	+	20	2866	c.2840T>C	c.(2839-2841)cTa>cCa	p.L947P		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	947					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.L947P(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTCAGAAACTAATGGCTGGA	0.318000													71	90					0	0	0.139131	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723873	140723873	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140723873C>A	ENST00000253812.6	+	1	273	c.273C>A	c.(271-273)gaC>gaA	p.D91E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.D91E(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGATAGACCGGGAGGAGC	0.498000													41	57					2.59497e-14	3.15228e-14	0.098360	1	0
FAM47A	158724	broad.mit.edu	37	X	34148601	34148601	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:34148601G>A	ENST00000346193.3	-	1	1846	c.1795C>T	c.(1795-1797)Ctt>Ttt	p.L599F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	599								p.L599F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTATATTGAAGAGAGTCAGAA	0.443000													48	12					0	0	0.139131	0	0
LPHN3	23284	broad.mit.edu	37	4	62758560	62758560	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:62758560C>G	ENST00000512091.1	+	9	2210	c.1463C>G	c.(1462-1464)tCg>tGg	p.S488W	LPHN3_ENST00000507164.1_Missense_Mutation_p.S556W|LPHN3_ENST00000511324.1_Missense_Mutation_p.S556W|LPHN3_ENST00000507625.1_Missense_Mutation_p.S556W|LPHN3_ENST00000504896.1_Missense_Mutation_p.S488W|LPHN3_ENST00000545650.1_Missense_Mutation_p.S488W|LPHN3_ENST00000508693.1_Missense_Mutation_p.S556W|LPHN3_ENST00000506720.1_Missense_Mutation_p.S556W|LPHN3_ENST00000506746.1_Missense_Mutation_p.S556W|LPHN3_ENST00000508946.1_Missense_Mutation_p.S488W|LPHN3_ENST00000506700.1_Missense_Mutation_p.S488W|LPHN3_ENST00000514996.1_Missense_Mutation_p.S488W|LPHN3_ENST00000509896.1_Missense_Mutation_p.S556W|LPHN3_ENST00000514591.1_Missense_Mutation_p.S488W|LPHN3_ENST00000514157.1_Missense_Mutation_p.S488W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	488					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.S488W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCATCAGCATCGTCCCAAATC	0.522000													13	18					0	0	0.119110	0	0
CENPF	1063	broad.mit.edu	37	1	214830542	214830542	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214830542G>A	ENST00000366955.3	+	18	8920	c.8752G>A	c.(8752-8754)Gaa>Aaa	p.E2918K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3014	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E2918K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCTGTTACTGAAAAGAGGTT	0.478000													57	198					0	0	0.139131	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596395	97596395	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:97596395G>A	ENST00000182096.4	+	1	577	c.513G>A	c.(511-513)caG>caA	p.Q171Q		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3									p.Q171Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTGAAAACCAGTCCTCTTCTG	0.458000													7	83					0	0	0.029380	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002401	69002401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:69002401C>A	ENST00000295381.3	+	2	529	c.110C>A	c.(109-111)cCa>cAa	p.P37Q	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P37Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P30Q|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30Q|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30Q|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37Q|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	37					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P30Q(1)|p.P37Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTTCCATCCATCGTCCACC	0.587000													155	239					6.19549e-64	9.70895e-64	0.139131	1	0
TTN	7273	broad.mit.edu	37	2	179422207	179422207	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179422207G>T	ENST00000589042.1	-	329	88006	c.87782C>A	c.(87781-87783)cCa>cAa	p.P29261Q	TTN_ENST00000460472.2_Missense_Mutation_p.P20196Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27620Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P20321Q|TTN_ENST00000342992.6_Missense_Mutation_p.P26693Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20388Q|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27620	Fibronectin type-III 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26693K(1)|p.P26691K(1)|p.P20321K(1)|p.P20196K(1)|p.P20388K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGACACTGGTTCATGCCA	0.453000													38	51					4.44401e-20	5.73183e-20	0.117977	1	0
MADD	8567	broad.mit.edu	37	11	47330834	47330834	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:47330834A>C	ENST00000342922.4	+	24	4114	c.3757A>C	c.(3757-3759)Aaa>Caa	p.K1253Q	MADD_ENST00000311027.5_Missense_Mutation_p.K1312Q|MADD_ENST00000407859.3_Missense_Mutation_p.K1230Q|MADD_ENST00000395344.3_Missense_Mutation_p.K1206Q|MADD_ENST00000349238.3_Missense_Mutation_p.K1273Q|MADD_ENST00000406482.1_Missense_Mutation_p.K1210Q|MADD_ENST00000402799.1_Missense_Mutation_p.K1210Q|MADD_ENST00000395336.3_Missense_Mutation_p.K1312Q|MADD_ENST00000405573.2_Missense_Mutation_p.K122Q|MADD_ENST00000402192.2_Missense_Mutation_p.K1252Q	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1312					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.K1312Q(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTATGCAGGCAAAGAGCGTTC	0.398000													78	110					0	0	0.139131	0	0
KLHL22	84861	broad.mit.edu	37	22	20796476	20796476	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:20796476G>C	ENST00000328879.4	-	7	1945	c.1789C>G	c.(1789-1791)Ctg>Gtg	p.L597V	KLHL22_ENST00000440659.2_Missense_Mutation_p.L454V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	597					cell division	Cul3-RING ubiquitin ligase complex		p.L597V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAAGGAGCAGGGAGCGGGGC	0.642000													6	28					0	0	0.029380	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686330	108686330	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:108686330C>A	ENST00000397688.2	-	3	773	c.404G>T	c.(403-405)cGc>cTc	p.R135L	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R137L|CMKLR1_ENST00000312143.7_Missense_Mutation_p.R137L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R137L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R135L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	137					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R135L(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGAGATGCAGCGGTCAGAGCT	0.557000													31	55					8.73648e-17	1.0893e-16	0.203993	1	0
GCC2	9648	broad.mit.edu	37	2	109087635	109087635	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:109087635G>T	ENST00000309863.6	+	6	2564	c.1850G>T	c.(1849-1851)tGt>tTt	p.C617F		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	617					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.C617F(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CATAAGAAATGTGAAAGGGAA	0.303000													18	16					1.01871e-10	1.17319e-10	0.204396	1	0
LY9	4063	broad.mit.edu	37	1	160783548	160783548	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:160783548C>A	ENST00000263285.5	+	3	607	c.577C>A	c.(577-579)Cca>Aca	p.P193T	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.P153T|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.P193T	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	193	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.P193T(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGCTGGACCCCAAGGGAACC	0.522000													91	239					1.61169e-53	2.48974e-53	0.139131	1	0
TTLL4	9654	broad.mit.edu	37	2	219602866	219602866	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:219602866G>C	ENST00000392102.1	+	3	807	c.467G>C	c.(466-468)aGt>aCt	p.S156T	TTLL4_ENST00000442769.1_Missense_Mutation_p.S156T|TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.S156T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	156					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.S156T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTCCCTGTCAGTCTCACTGCC	0.542000													104	118					0	0	0.139131	0	0
OAS1	4938	broad.mit.edu	37	12	113357227	113357227	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:113357227G>A	ENST00000202917.5	+	6	1335	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	358					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.D358N(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGAGACCGACGATCCCAGGAG	0.507000													26	51					0	0	0.139131	0	0
SSPO	23145	broad.mit.edu	37	7	149508066	149508066	+	RNA	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:149508066G>T	ENST00000378016.2	+	0	9460							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTACCCCCCGGGCAGCACTGT	0.602000													17	4					2.21704e-12	2.62849e-12	0.076483	1	0
SPARC	6678	broad.mit.edu	37	5	151043710	151043710	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:151043710T>G	ENST00000231061.4	-	9	1134	c.821A>C	c.(820-822)gAc>gCc	p.D274A		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	274	EF-hand.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.D274A(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	ATTGTCCAGGTCACAGGTCTC	0.587000													46	66					0	0	0.139131	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709119	176709119	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:176709119C>A	ENST00000367662.3	+	14	5102	c.3938C>A	c.(3937-3939)aCc>aAc	p.T1313N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1313					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.T1313N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTCAGGAACCTATGGACTG	0.393000													40	111					7.63091e-17	9.53644e-17	0.098360	1	0
ZNF536	9745	broad.mit.edu	37	19	30936282	30936282	+	Silent	SNP	C	C	A	rs141248439		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:30936282C>A	ENST00000355537.3	+	2	1960	c.1813C>A	c.(1813-1815)Cgg>Agg	p.R605R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R605R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAAGCAGTCGGGATTTTTT	0.547000													80	96					5.81834e-28	8.11132e-28	0.139131	1	0
GIN1	54826	broad.mit.edu	37	5	102432295	102432295	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:102432295G>A	ENST00000399004.2	-	7	1338	c.1244C>T	c.(1243-1245)cCt>cTt	p.P415L	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	415					DNA integration		DNA binding	p.P415L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CATTTTGATAGGTCTTTTCAG	0.398000													123	58					0	0	0.139131	0	0
CA7	766	broad.mit.edu	37	16	66880940	66880940	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:66880940G>T	ENST00000338437.2	+	2	157	c.48G>T	c.(46-48)tcG>tcT	p.S16S	CA7_ENST00000394069.3_5'UTR|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	16					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.S16S(1)		kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAGGCCCCTCGCATTGGCACA	0.597000													15	29					1.5739e-10	1.80682e-10	0.146539	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64619165	64619165	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:64619165C>G	ENST00000498707.1	-	14	2500	c.2158G>C	c.(2158-2160)Gtc>Ctc	p.V720L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V692L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	720	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V720L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGGCCCTGGACACAGATATCA	0.488000													45	21					0	0	0.117977	0	0
GINS2	51659	broad.mit.edu	37	16	85721135	85721135	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:85721135G>T	ENST00000253462.3	-	2	236	c.136C>A	c.(136-138)Ctg>Atg	p.L46M		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	46					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	p.L46M(1)		endometrium(2)|large_intestine(2)|lung(2)	6						GCCAGCCACAGGGGCACTTCC	0.483000													41	67					7.38948e-41	1.10233e-40	0.139131	1	0
TEX15	56154	broad.mit.edu	37	8	30706080	30706080	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:30706080G>T	ENST00000256246.2	-	1	528	c.454C>A	c.(454-456)Caa>Aaa	p.Q152K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	152								p.Q152K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATTACCTTGGTCCTTACAT	0.448000													45	75					1.7489e-18	2.22924e-18	0.124865	1	0
TENM2	57451	broad.mit.edu	37	5	167553854	167553854	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:167553854G>T	ENST00000519204.1	+	11	2060	c.1942G>T	c.(1942-1944)Gtg>Ttg	p.V648L	TENM2_ENST00000518659.1_Missense_Mutation_p.V769L|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.V537L|TENM2_ENST00000403607.2_Missense_Mutation_p.V602L|TENM2_ENST00000545108.1_Missense_Mutation_p.V769L					teneurin transmembrane protein 2									p.V648L(1)|p.V602L(1)|p.V769L(1)									TGACCAGCGCGTGTGCCACCC	0.602000													7	8					3.86212e-05	4.03683e-05	0.069234	1	0
JOSD2	126119	broad.mit.edu	37	19	51013625	51013625	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:51013625C>G	ENST00000598418.1	-	2	317	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	JOSD2_ENST00000595669.1_Missense_Mutation_p.E22Q|JOSD2_ENST00000391815.3_Missense_Mutation_p.E22Q|JOSD2_ENST00000601423.1_Missense_Mutation_p.E22Q	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	22	Josephin.				protein deubiquitination		ubiquitin-specific protease activity	p.E22Q(1)		kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		GCACACAGCTCCAGGCGCTGC	0.667000													28	36					0	0	0.246493	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130676970	130676970	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:130676970G>C	ENST00000335791.5	-	3	438	c.163C>G	c.(163-165)Cac>Gac	p.H55D	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	55					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	p.H55D(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CCACTGAAGTGCAGGGGTCCC	0.652000													4	23					0	0	0.217242	0	0
ALG13	79868	broad.mit.edu	37	X	110996020	110996020	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:110996020A>T	ENST00000394780.3	+	25	2947	c.2935A>T	c.(2935-2937)Aca>Tca	p.T979S	ALG13_ENST00000251943.4_Missense_Mutation_p.T796S|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	979					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.T796S(1)|p.T301S(1)|p.T979S(1)		endometrium(2)|lung(10)|skin(1)	13						AATTTTAGATACAAAAGTTTT	0.323000													17	1					0	0	0.204396	0	0
BCL9L	283149	broad.mit.edu	37	11	118772871	118772871	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:118772871G>C	ENST00000334801.3	-	6	2545	c.1581C>G	c.(1579-1581)taC>taG	p.Y527*	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	527	Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.Y527*(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTCTTCGTAGTACTCCTCCT	0.617000													44	74					0	0	0.139131	0	0
CIB4	130106	broad.mit.edu	37	2	26806683	26806683	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:26806683C>T	ENST00000288861.4	-	5	465	c.412G>A	c.(412-414)Gac>Aac	p.D138N	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	138	EF-hand 3.						calcium ion binding	p.D138N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGGAGGTCCTCAGACATG	0.562000													58	79					0	0	0.139131	0	0
BAIAP3	8938	broad.mit.edu	37	16	1394604	1394604	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:1394604A>G	ENST00000324385.5	+	19	1925	c.1767A>G	c.(1765-1767)ccA>ccG	p.P589P	BAIAP3_ENST00000426824.3_Silent_p.P554P|BAIAP3_ENST00000568887.1_Silent_p.P526P|BAIAP3_ENST00000397488.2_Silent_p.P571P|BAIAP3_ENST00000397489.1_Silent_p.P571P|BAIAP3_ENST00000562208.1_Silent_p.P531P|BAIAP3_ENST00000421665.2_Silent_p.P518P	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	589					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.P589P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCTTGCAGCCAGGACCACAGC	0.622000													123	190					0	0	0.139131	0	0
WDR75	84128	broad.mit.edu	37	2	190315685	190315685	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:190315685C>T	ENST00000314761.4	+	3	333	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	91						nucleolus		p.I91I(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAGATGGCATCTTAATAAAGG	0.289000													53	106					0	0	0.139131	0	0
TPM4	7171	broad.mit.edu	37	19	16204497	16204497	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:16204497G>C	ENST00000300933.4	+	7	858	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000538887.1_Missense_Mutation_p.E236Q|TPM4_ENST00000344824.6_Missense_Mutation_p.E236Q	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	200					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	p.E236Q(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						TATCTAGGCTGAGACCCGTGC	0.478000			T	ALK	ALCL								49	151					0	0	0.139131	0	0
LINC00475	158314	broad.mit.edu	37	9	94903903	94903903	+	RNA	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:94903903G>C	ENST00000416438.2	+	0	155					NR_027341.1																						CCGCCATACCGGGGGACCTGG	0.687000													4	8					0	0	0.038147	0	0
FAM208A	23272	broad.mit.edu	37	3	56675595	56675595	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:56675595T>A	ENST00000431842.2	-	8	2137	c.1213A>T	c.(1213-1215)Act>Tct	p.T405S	FAM208A_ENST00000493960.2_Missense_Mutation_p.T801S|FAM208A_ENST00000355628.5_Missense_Mutation_p.T801S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	801								p.T405S(1)|p.T801S(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GCATCATCAGTGCTCAATCCT	0.428000													34	9					0	0	0.183431	0	0
CWH43	80157	broad.mit.edu	37	4	48996751	48996751	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:48996751C>A	ENST00000226432.4	+	5	810	c.627C>A	c.(625-627)acC>acA	p.T209T	CWH43_ENST00000513409.1_Silent_p.T182T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	209					GPI anchor biosynthetic process	integral to membrane		p.T209T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGTTCCTCACCCACTGGGTTT	0.537000													55	17					2.47907e-22	3.29128e-22	0.139131	1	0
C7orf31	136895	broad.mit.edu	37	7	25194768	25194768	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:25194768G>A	ENST00000409280.1	-	6	765	c.457C>T	c.(457-459)Cac>Tac	p.H153Y	C7orf31_ENST00000283905.3_Missense_Mutation_p.H153Y			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	153								p.H153Y(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CGACAGATGTGTGTGTGGTAG	0.498000													16	86					0	0	0.132662	0	0
THRAP3	9967	broad.mit.edu	37	1	36752349	36752349	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:36752349A>T	ENST00000354618.5	+	4	742	c.518A>T	c.(517-519)aAg>aTg	p.K173M	THRAP3_ENST00000469141.2_Missense_Mutation_p.K173M	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	173	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.K173M(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAATCTTCTAAGCGCAAGTCT	0.522000			T	USP6	aneurysmal bone cysts								183	284					0	0	0.139131	0	0
ARID4A	5926	broad.mit.edu	37	14	58820404	58820404	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:58820404G>A	ENST00000355431.3	+	17	2057	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	ARID4A_ENST00000348476.3_Missense_Mutation_p.E562K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E562K|ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000431317.2_Missense_Mutation_p.E562K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	562					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.E562K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATGTGACTCTGAAGGAGAGGA	0.368000													27	28					0	0	0.134883	0	0
CTNND1	1500	broad.mit.edu	37	11	57569422	57569422	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:57569422C>T	ENST00000524630.1	+	7	1687	c.1174C>T	c.(1174-1176)Cac>Tac	p.H392Y	CTNND1_ENST00000527467.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000531014.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.H392Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.H392Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.H392Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.H392Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.H291Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000399050.4_Missense_Mutation_p.H392Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.H392Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.H291Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.H392Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.H392Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.H338Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.H69Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.H291Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.H392Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.H392Y			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	392					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.H392Y(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATACCTGCAACACTTATGCTA	0.522000													55	79					0	0	0.139131	0	0
IL37	27178	broad.mit.edu	37	2	113675249	113675249	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:113675249C>T	ENST00000263326.3	+	4	345	c.303C>T	c.(301-303)gcC>gcT	p.A101A	IL37_ENST00000352179.3_Silent_p.A80A|IL37_ENST00000353225.3_Silent_p.A61A|IL37_ENST00000311328.2_Silent_p.A75A|IL37_ENST00000349806.3_Silent_p.A40A	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	101					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	p.A75A(1)|p.A101A(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TGAGCTCAGCCTCTGCGGAGA	0.493000													167	268					0	0	0.139131	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605336	140605336	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140605336G>T	ENST00000239449.4	+	1	2259	c.2259G>T	c.(2257-2259)gtG>gtT	p.V753V	PCDHB14_ENST00000515856.2_Silent_p.V600V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		753					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V753V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATACGAGGTGTGTCTGACAG	0.557000													47	84					1.26005e-42	1.89531e-42	0.139131	1	0
LAMA2	3908	broad.mit.edu	37	6	129663545	129663545	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:129663545G>A	ENST00000421865.2	+	30	4418	c.4369G>A	c.(4369-4371)Gga>Aga	p.G1457R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1457	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1457R(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGATACTATGGAATTGTCAA	0.383000													40	75					0	0	0.139131	0	0
OR4D9	390199	broad.mit.edu	37	11	59283042	59283042	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:59283042G>T	ENST00000329328.3	+	1	657	c.657G>T	c.(655-657)acG>acT	p.T219T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T219T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TATCTTACACGGTCATCTTGA	0.493000													94	174					7.0627e-44	1.06529e-43	0.139131	1	0
LBP	3929	broad.mit.edu	37	20	36997738	36997738	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:36997738T>A	ENST00000217407.2	+	10	1242	c.1081T>A	c.(1081-1083)Tat>Aat	p.Y361N		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	361					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.Y361N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGTGGACCCCTATATGGAGAT	0.552000													174	184					0	0	0.139131	0	0
RDH11	51109	broad.mit.edu	37	14	68159752	68159752	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:68159752C>T	ENST00000381346.4	-	2	202	c.92G>A	c.(91-93)gGg>gAg	p.G31E	RDH11_ENST00000428130.2_Missense_Mutation_p.G31E|RDH11_ENST00000553384.1_Missense_Mutation_p.G31E	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	31					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	p.G31E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	TGTACACACCCCACTGGACAG	0.498000													10	27					0	0	0.080935	0	0
ZNF714	148206	broad.mit.edu	37	19	21300980	21300980	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:21300980G>T	ENST00000596143.1	+	5	1835	c.1510G>T	c.(1510-1512)Ggc>Tgc	p.G504C	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G609C(1)|p.G504C(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AATTCAgcagggcatggtggc	0.433000													16	14					2.31682e-05	2.43334e-05	0.132662	1	0
SORCS1	114815	broad.mit.edu	37	10	108431096	108431096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:108431096C>A	ENST00000263054.6	-	16	2095	c.2088G>T	c.(2086-2088)agG>agT	p.R696S	SORCS1_ENST00000344440.6_Missense_Mutation_p.R696S|SORCS1_ENST00000369698.1_Missense_Mutation_p.R231S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	696						integral to membrane	neuropeptide receptor activity|protein binding	p.R696S(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCTTATATATCCTTTTTGCTC	0.443000													51	24					1.39843e-22	1.86801e-22	0.139131	1	0
TRIM49	57093	broad.mit.edu	37	11	89537464	89537464	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:89537464T>A	ENST00000329758.1	-	3	502	c.174A>T	c.(172-174)tcA>tcT	p.S58S	TRIM49_ENST00000532501.2_Silent_p.S58S	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	58						intracellular	zinc ion binding	p.S58Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTGCTCGGTTGACTTTGTGC	0.468000													44	102					0	0	0.111260	0	0
DGKB	1607	broad.mit.edu	37	7	14216479	14216479	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:14216479C>G	ENST00000403951.2	-	25	2711	c.2292G>C	c.(2290-2292)atG>atC	p.M764I	DGKB_ENST00000402815.1_Missense_Mutation_p.M763I|DGKB_ENST00000406247.3_Missense_Mutation_p.M764I|DGKB_ENST00000258767.5_Missense_Mutation_p.M764I|DGKB_ENST00000407950.1_Missense_Mutation_p.M756I|DGKB_ENST00000399322.3_Missense_Mutation_p.M764I|DGKB_ENST00000444700.2_Missense_Mutation_p.M745I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	764					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.M764I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATGGGGTCTGCATCCATGGCT	0.388000													79	106					0	0	0.139131	0	0
KLHL1	57626	broad.mit.edu	37	13	70514361	70514361	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:70514361C>A	ENST00000377844.4	-	4	1584	c.825G>T	c.(823-825)ttG>ttT	p.L275F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L82F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	275	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L275F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTTTAATTCCAAGCAGCCTA	0.393000													7	14					0.0381472	0.0383947	0.038147	1	0
ERBB4	2066	broad.mit.edu	37	2	212288914	212288914	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:212288914G>T	ENST00000342788.4	-	23	3142	c.2832C>A	c.(2830-2832)atC>atA	p.I944I	ERBB4_ENST00000436443.1_Silent_p.I944I|ERBB4_ENST00000402597.1_Silent_p.I934I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	944	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.I944I(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAATAGTGCAGATGGGAGGCT	0.398000										TSP Lung(8;0.080)			21	38					4.47668e-21	5.83634e-21	0.091800	1	0
FLCN	201163	broad.mit.edu	37	17	17127348	17127348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:17127348C>T	ENST00000285071.4	-	6	960	c.506G>A	c.(505-507)tGg>tAg	p.W169*	FLCN_ENST00000389169.5_Nonsense_Mutation_p.W169*|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	169					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.W169*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GATGCTGTACCAGCGCTGGAA	0.587000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				22	6					0	0	0.108266	0	0
EFTUD1	79631	broad.mit.edu	37	15	82422766	82422766	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:82422766T>A	ENST00000268206.7	-	20	3479	c.3311A>T	c.(3310-3312)gAa>gTa	p.E1104V	EFTUD1_ENST00000359445.3_Missense_Mutation_p.E1053V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	1104					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.E1104V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACAATCTTTTCTTCCACATA	0.438000													40	61					0	0	0.117977	0	0
OBSCN	84033	broad.mit.edu	37	1	228481316	228481316	+	Splice_Site	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:228481316G>C	ENST00000570156.2	+	46	12491	c.12418_splice	c.e46+1	p.R4139_splice	OBSCN_ENST00000422127.1_Splice_Site_p.R3710_splice|OBSCN_ENST00000284548.11_Splice_Site_p.R3710_splice|OBSCN_ENST00000366709.4_Splice_Site_p.R829_splice|OBSCN_ENST00000366707.4_Splice_Site_p.R829_splice|OBSCN_ENST00000359599.6_Splice_Site_p.R2557_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3181	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R3710S(1)|p.R3764S(1)|p.R3993S(1)|p.R3894S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCACCGTCAGGGGTAAAGGCC	0.607000													20	51					0	0	0.083992	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805958	31805958	+	RNA	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:31805958C>A	ENST00000405650.1	-	0	178							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TCTGCTGGCACTGAACCTGCA	0.687000													10	16					2.27111e-07	2.48381e-07	0.093190	1	0
CSMD2	114784	broad.mit.edu	37	1	34049279	34049279	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:34049279G>A	ENST00000373381.4	-	47	7379	c.7203C>T	c.(7201-7203)ctC>ctT	p.L2401L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2403	CUB 14.					integral to membrane|plasma membrane	protein binding	p.L2403L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTCTCGCTGAGGAAGTACT	0.507000													67	124					0	0	0.139131	0	0
IRS4	8471	broad.mit.edu	37	X	107976561	107976561	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:107976561G>T	ENST00000372129.2	-	1	3090	c.3014C>A	c.(3013-3015)aCa>aAa	p.T1005K		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1005						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.T1005K(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATTGCTACCTGTAGCACTGAG	0.493000													95	108					4.66267e-56	7.24415e-56	0.139131	1	0
ALDH1B1	219	broad.mit.edu	37	9	38396249	38396249	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:38396249C>G	ENST00000377698.3	+	2	657	c.504C>G	c.(502-504)ttC>ttG	p.F168L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	168					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.F168L(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCCAGCATTTCTGCTTCACCC	0.577000													16	104					0	0	0.160694	0	0
TTC22	55001	broad.mit.edu	37	1	55253465	55253465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:55253465C>A	ENST00000371276.4	-	3	761	c.658G>T	c.(658-660)Gag>Tag	p.E220*	TTC22_ENST00000371274.4_Nonsense_Mutation_p.E220*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	220							binding	p.E219_E220>D*(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CTCTTCTGCTCCTCACTGCCC	0.662000													6	13					0.000274275	0.00028422	0.047766	1	0
KIAA0141	9812	broad.mit.edu	37	5	141303535	141303535	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:141303535G>A	ENST00000432126.2	+	1	163	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	KIAA0141_ENST00000194118.4_Missense_Mutation_p.R10Q	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	10					apoptosis|regulation of caspase activity	mitochondrion	protein binding	p.R10Q(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGGCCGAGGTAAGGGA	0.667000													5	6					0	0	0.029380	0	0
SHANK1	50944	broad.mit.edu	37	19	51219627	51219627	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:51219627G>T	ENST00000293441.1	-	2	382	c.364C>A	c.(364-366)Ccg>Acg	p.P122T	SHANK1_ENST00000359082.3_Missense_Mutation_p.P122T|SHANK1_ENST00000391814.1_Missense_Mutation_p.P122T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	122					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P122T(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGTGGCCGGTTGGAACAGG	0.632000													29	11					4.00102e-26	5.45183e-26	0.235728	1	0
CADM1	23705	broad.mit.edu	37	11	115069138	115069138	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:115069138G>C	ENST00000537058.1	-	9	1119	c.1099C>G	c.(1099-1101)Cca>Gca	p.P367A	CADM1_ENST00000452722.2_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.P367A|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Missense_Mutation_p.P339A|CADM1_ENST00000537140.1_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	359					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAACTGCTGGTTCTGTCGTC	0.458000													3	13					0	0	0.184627	0	0
LINC00521	256369	broad.mit.edu	37	14	94464536	94464536	+	RNA	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:94464536G>T	ENST00000444118.1	+	0	216					NR_024182.1													p.G17M(1)									GACAAGGAAGGGGACCTTCAA	0.617000													17	40					2.54575e-18	3.23355e-18	0.219247	1	0
CLTCL1	8218	broad.mit.edu	37	22	19171032	19171032	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:19171032G>A	ENST00000263200.10	-	30	4770	c.4698C>T	c.(4696-4698)ttC>ttT	p.F1566F	CLTCL1_ENST00000427926.1_Silent_p.F1566F|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.F1509F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1566	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.F1566F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GACAAGCTGCGAAGCACTCCC	0.597000			T	?	ALCL								19	38					0	0	0.219247	0	0
OR10A5	144124	broad.mit.edu	37	11	6867641	6867641	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:6867641C>A	ENST00000299454.4	+	1	759	c.728C>A	c.(727-729)tCc>tAc	p.S243Y	OR10A5_ENST00000379831.2_Missense_Mutation_p.S247Y			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S243Y(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACGTGCTCCTCACACCTC	0.438000													112	193					4.73232e-52	7.24867e-52	0.139131	1	0
KIAA1429	25962	broad.mit.edu	37	8	95539314	95539314	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:95539314T>A	ENST00000297591.5	-	8	1233	c.1158A>T	c.(1156-1158)acA>acT	p.T386T	KIAA1429_ENST00000437199.1_Silent_p.T386T|KIAA1429_ENST00000421249.2_Silent_p.T386T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	386					mRNA processing|RNA splicing	nucleus		p.T386T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTAAGAGTTCTGTTAACTTCA	0.343000													91	112					0	0	0.139131	0	0
PRPF8	10594	broad.mit.edu	37	17	1563786	1563786	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:1563786C>A	ENST00000572621.1	-	29	4990	c.4725G>T	c.(4723-4725)caG>caT	p.Q1575H	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1575H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1575						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.Q1575H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTCGGAAGATCTGGATGAGAG	0.512000													267	66					6.16129e-102	9.73969e-102	0.139131	1	0
SCAND3	114821	broad.mit.edu	37	6	28543098	28543098	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:28543098C>A	ENST00000452236.2	-	3	2001	c.1384G>T	c.(1384-1386)Ggg>Tgg	p.G462W		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	462	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G462W(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGAGACTTCCCATGGACAATT	0.448000													32	32					1.88708e-17	2.38022e-17	0.134883	1	0
RIMBP2	23504	broad.mit.edu	37	12	130919333	130919333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:130919333C>A	ENST00000261655.4	-	11	2311	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	RIMBP2_ENST00000535703.1_Missense_Mutation_p.K624N|RIMBP2_ENST00000536002.1_Missense_Mutation_p.K624N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	716						cell junction|synapse		p.K716N(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCCCCTCCTCTTGAAGTCTG	0.622000													64	78					6.07242e-22	8.00322e-22	0.139131	1	0
NLGN4X	57502	broad.mit.edu	37	X	5827225	5827225	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:5827225C>A	ENST00000381095.3	-	4	1308	c.681G>T	c.(679-681)caG>caT	p.Q227H	NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q227H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q247H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q227H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q227H	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	227					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.Q227H(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGCTTGAATCTGATCCAGGA	0.512000													56	8					2.01871e-26	2.76111e-26	0.139131	1	0
PNLIP	5406	broad.mit.edu	37	10	118313238	118313238	+	Splice_Site	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:118313238G>A	ENST00000369221.2	+	6	487		c.e6-1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.?(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTTTCCGACAGTCGGCGTTCG	0.488000													25	8					0	0	0.134883	0	0
BAGE2	85319	broad.mit.edu	37	21	11049568	11049568	+	RNA	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:11049568G>T	ENST00000470054.1	-	0	540									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAAGAACTGATCTAAGAGG	0.413000													9	147					0.00136819	0.0014044	0.093190	1	0
SLC7A10	56301	broad.mit.edu	37	19	33716539	33716539	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:33716539G>A	ENST00000253188.3	-	1	217	c.71C>T	c.(70-72)cCa>cTa	p.P24L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	24					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	p.P24L(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GACGGTCCCTGGGACTGGGGA	0.751000													9	9					0	0	0.080935	0	0
PCDH20	64881	broad.mit.edu	37	13	61987001	61987001	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:61987001T>A	ENST00000409186.1	-	5	3336	c.1231A>T	c.(1231-1233)Act>Tct	p.T411S	PCDH20_ENST00000409204.4_Missense_Mutation_p.T411S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	384	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T384S(1)|p.T411S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACAAGAGCAGTGATTACAGCA	0.428000													88	29					0	0	0.139131	0	0
ASNA1	439	broad.mit.edu	37	19	12858371	12858371	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:12858371G>T	ENST00000591090.1	+	7	982	c.880G>T	c.(880-882)Gcc>Tcc	p.A294S	ASNA1_ENST00000357332.3_Missense_Mutation_p.A294S			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	294					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	p.A294S(1)		endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	GATGTGTGAGGCCCGTCACAA	0.552000													12	32					5.50884e-06	5.86529e-06	0.093190	1	0
DPP10	57628	broad.mit.edu	37	2	116525913	116525913	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:116525913T>C	ENST00000410059.1	+	13	1634	c.1154T>C	c.(1153-1155)tTt>tCt	p.F385S	DPP10_ENST00000393147.2_Missense_Mutation_p.F389S|DPP10_ENST00000409163.1_Missense_Mutation_p.F335S|DPP10_ENST00000310323.8_Missense_Mutation_p.F378S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	385					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.F385S(1)|p.F378S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAAATTCTTTATGACAGTG	0.448000													18	26					0	0	0.069288	0	0
CBR4	84869	broad.mit.edu	37	4	169923276	169923276	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:169923276C>A	ENST00000306193.3	-	4	649	c.481G>T	c.(481-483)Gct>Tct	p.A161S	CBR4_ENST00000509108.1_5'UTR|CBR4_ENST00000504480.1_Missense_Mutation_p.A161S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	161					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	p.A161S(1)		kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TTAGCAAGAGCACGTGAAAAT	0.348000													16	28					1.33834e-09	1.51085e-09	0.189662	1	0
SEC16A	9919	broad.mit.edu	37	9	139368707	139368707	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:139368707T>C	ENST00000313050.7	-	1	3434	c.3361A>G	c.(3361-3363)Agc>Ggc	p.S1121G	SEC16A_ENST00000290037.6_Missense_Mutation_p.S943G|SEC16A_ENST00000431893.2_Missense_Mutation_p.S943G|SEC16A_ENST00000371706.3_Missense_Mutation_p.S943G	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	943	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.S1121G(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGAGACACGCTAGAGGACTGA	0.682000													7	9					0	0	0.105934	0	0
CHST15	51363	broad.mit.edu	37	10	125801930	125801930	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:125801930C>A	ENST00000346248.5	-	4	1562	c.920G>T	c.(919-921)cGc>cTc	p.R307L	CHST15_ENST00000421115.1_Missense_Mutation_p.R307L|CHST15_ENST00000435907.1_Missense_Mutation_p.R307L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	307					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	p.R307L(2)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CACGGGATAGCGGTCTCGCAG	0.542000													30	18					1.61788e-16	2.01262e-16	0.163468	1	0
SLC25A46	91137	broad.mit.edu	37	5	110083920	110083920	+	Silent	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:110083920A>C	ENST00000355943.3	+	5	645	c.519A>C	c.(517-519)acA>acC	p.T173T	SLC25A46_ENST00000513807.1_Silent_p.T11T|SLC25A46_ENST00000509442.2_Silent_p.T82T|SLC25A46_ENST00000447245.2_Silent_p.T173T|SLC25A46_ENST00000504098.1_Silent_p.T27T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	173					transport	integral to membrane|mitochondrial inner membrane		p.T173T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGGGAGTCACACTTGGAGCAG	0.368000													31	15					0	0	0.225048	0	0
TPR	7175	broad.mit.edu	37	1	186306192	186306192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:186306192C>A	ENST00000367478.3	-	32	4755	c.4459G>T	c.(4459-4461)Gaa>Taa	p.E1487*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1487					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.E1488*(1)|p.E1487*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GATTTTGTTTCAGCTTGGTTG	0.423000			T	NTRK1	papillary thyroid								61	50					1.48873e-21	1.95733e-21	0.139131	1	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886959	27886959	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:27886959G>A	ENST00000326019.6	+	1	622	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	114				SNSGE -> PIAKP (in Ref. 6; AAN12269).		cytoplasm|nucleus	double-stranded RNA binding|protein binding	p.G114R(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CTCCAATTCTGGGGAGCCCGA	0.642000													59	67					0	0	0.139131	0	0
ABCC12	94160	broad.mit.edu	37	16	48119591	48119591	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:48119591C>A	ENST00000311303.3	-	27	4086	c.3741G>T	c.(3739-3741)caG>caT	p.Q1247H	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1247	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1247H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGACTTCTGCCTGTAATTTTT	0.403000													85	127					7.74691e-53	1.19335e-52	0.139131	1	0
PLCB4	5332	broad.mit.edu	37	20	9382220	9382220	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:9382220G>T	ENST00000378501.2	+	17	1609	c.1594G>T	c.(1594-1596)Gca>Tca	p.A532S	PLCB4_ENST00000378473.3_Missense_Mutation_p.A532S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A532S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.A532S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A532S|PLCB4_ENST00000378493.1_Missense_Mutation_p.A532S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	532					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.A532S(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGAAGCTGTTGCAAATAGCGT	0.423000													14	15					7.07596e-05	7.38184e-05	0.175082	1	0
OR2T27	403239	broad.mit.edu	37	1	248813331	248813331	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248813331G>C	ENST00000344889.3	-	1	854	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L285L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGTGGATTGAGCATGGGAG	0.502000													16	62					0	0	0.204396	0	0
OR2M3	127062	broad.mit.edu	37	1	248366960	248366960	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248366960G>T	ENST00000456743.1	+	1	629	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K197N(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATTTGAAAAGATTCTTTTCA	0.428000													241	183					9.11149e-109	1.44454e-108	0.139131	1	0
DBT	1629	broad.mit.edu	37	1	100696436	100696436	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:100696436C>G	ENST00000370132.3	-	4	299	c.286G>C	c.(286-288)Gat>Cat	p.D96H	DBT_ENST00000370131.3_Missense_Mutation_p.D96H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	96	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.D96H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CAGATGCTATCAAACTGAGAC	0.323000													8	40					0	0	0.069234	0	0
LSAMP	4045	broad.mit.edu	37	3	115805239	115805239	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:115805239C>A	ENST00000490035.1	-	2	819	c.320G>T	c.(319-321)gGt>gTt	p.G107V	LSAMP_ENST00000539563.1_Missense_Mutation_p.G104V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	107	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.G107V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGTGTAGGAACCCTCATCATA	0.502000													44	17					1.23713e-20	1.60708e-20	0.139131	1	0
ESYT3	83850	broad.mit.edu	37	3	138191516	138191516	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:138191516T>G	ENST00000389567.4	+	18	2238	c.2052T>G	c.(2050-2052)agT>agG	p.S684R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	684						integral to membrane|plasma membrane		p.S684R(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGAAGAAGAGTCCAGCCACCA	0.602000													38	115					0	0	0.104719	0	0
PRSS21	10942	broad.mit.edu	37	16	2871586	2871586	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:2871586C>T	ENST00000455114.1	+	6	1025	c.919C>T	c.(919-921)Cca>Tca	p.P307S	PRSS21_ENST00000450020.3_Missense_Mutation_p.P295S|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.P309S	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	309					proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	p.P309S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CTGGGCTCTCCCACTCCTGGG	0.587000													41	69					0	0	0.139131	0	0
TNNI2	7136	broad.mit.edu	37	11	1861882	1861882	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:1861882T>A	ENST00000381906.1	+	5	251	c.182T>A	c.(181-183)gTg>gAg	p.V61E	TNNI2_ENST00000381905.3_Missense_Mutation_p.V61E|TNNI2_ENST00000252898.7_Missense_Mutation_p.V61E|TNNI2_ENST00000381911.1_Missense_Mutation_p.V61E	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	61					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	p.V61E(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATGTCTGAAGTGCAGGTACCA	0.657000													13	22					0	0	0.160694	0	0
OR2A12	346525	broad.mit.edu	37	7	143792896	143792896	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:143792896C>A	ENST00000408949.2	+	1	756	c.696C>A	c.(694-696)ggC>ggA	p.G232G		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTGGGGAGGGCCGCAGAAAGG	0.587000													106	149					4.55152e-58	7.08159e-58	0.139131	1	0
UPK1B	7348	broad.mit.edu	37	3	118905622	118905622	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:118905622C>A	ENST00000264234.3	+	2	183	c.34C>A	c.(34-36)Cag>Aag	p.Q12K	UPK1B_ENST00000497685.1_Intron|UPK1B_ENST00000460625.1_Missense_Mutation_p.Q12K|RP11-484M3.5_ENST00000490594.1_Intron	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	12					epithelial cell differentiation	integral to membrane	structural molecule activity	p.Q12K(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TCGTTGCTTCCAGGGCCTGCT	0.388000													39	105					7.63091e-17	9.53644e-17	0.098360	1	0
KIF2B	84643	broad.mit.edu	37	17	51900958	51900958	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:51900958G>T	ENST00000268919.4	+	1	720	c.564G>T	c.(562-564)atG>atT	p.M188I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	188					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.M188I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGAAATCATGCACATGATCG	0.582000													14	114					3.27435e-08	3.62113e-08	0.119110	1	0
AVPR1B	553	broad.mit.edu	37	1	206225092	206225092	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:206225092T>C	ENST00000367126.4	+	1	1117	c.652T>C	c.(652-654)Tgc>Cgc	p.C218R		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	218					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.C218R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTCACGGCCTGCTACAGCCT	0.617000													46	114					0	0	0.139131	0	0
OR52N5	390075	broad.mit.edu	37	11	5799839	5799839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:5799839C>T	ENST00000317093.2	-	1	58	c.26G>A	c.(25-27)tGg>tAg	p.W9*	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W9*(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGTTGGAAACCAGCATAATGA	0.353000													27	59					0	0	0.099896	0	0
DDX18	8886	broad.mit.edu	37	2	118579625	118579625	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:118579625G>T	ENST00000263239.2	+	6	1067	c.939G>T	c.(937-939)ctG>ctT	p.L313L	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	313	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.D314Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCGTCTGCTGGACCATATGC	0.418000													42	74					1.48734e-19	1.90702e-19	0.131918	1	0
GLUL	2752	broad.mit.edu	37	1	182355522	182355522	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:182355522T>A	ENST00000311223.5	-	5	1240	c.344A>T	c.(343-345)cAc>cTc	p.H115L	GLUL_ENST00000339526.4_Missense_Mutation_p.H115L|GLUL_ENST00000331872.6_Missense_Mutation_p.H115L|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.H115L	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	115					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	p.H115L(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TTTACAGGTGTGCCTCAAATT	0.483000													81	238					0	0	0.139131	0	0
RBL2	5934	broad.mit.edu	37	16	53513070	53513070	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:53513070C>A	ENST00000262133.6	+	18	2845	c.2708C>A	c.(2707-2709)aCa>aAa	p.T903K	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	903	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.T903K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCCAGGTCACAAAAGAAGAT	0.458000													7	55					8.12818e-05	8.47141e-05	0.029380	1	0
PDE1C	5137	broad.mit.edu	37	7	31864497	31864497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:31864497C>A	ENST00000396184.3	-	14	1594	c.1390G>T	c.(1390-1392)Gga>Tga	p.G464*	PDE1C_ENST00000396193.1_Nonsense_Mutation_p.G524*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.G464*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.G464*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.G464*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	464	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.G464*(2)|p.G464R(2)|p.G524*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGCCTCTGTCCTGTCCCACCA	0.512000													53	70					2.30037e-20	2.98114e-20	0.139131	1	0
YY1AP1	55249	broad.mit.edu	37	1	155629693	155629693	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:155629693T>C	ENST00000368340.5	-	10	2470	c.2362A>G	c.(2362-2364)Act>Gct	p.T788A	YY1AP1_ENST00000355499.4_Missense_Mutation_p.T670A|YY1AP1_ENST00000361831.5_Missense_Mutation_p.T659A|YY1AP1_ENST00000368339.5_Missense_Mutation_p.T808A|YY1AP1_ENST00000404643.1_Missense_Mutation_p.T650A|YY1AP1_ENST00000407221.1_Missense_Mutation_p.T639A|YY1AP1_ENST00000359205.5_Missense_Mutation_p.T659A|YY1AP1_ENST00000368330.2_Missense_Mutation_p.T670A|YY1AP1_ENST00000535662.1_Missense_Mutation_p.T516A|YY1AP1_ENST00000295566.4_Missense_Mutation_p.T716A|YY1AP1_ENST00000347088.5_Missense_Mutation_p.T670A|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.T639A	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGGAAAACAGTAGCAGAGAGA	0.507000													3	213					0	0	0.115264	0	0
EPHX2	2053	broad.mit.edu	37	8	27373877	27373877	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:27373877T>G	ENST00000521400.1	+	8	1302	c.872T>G	c.(871-873)aTg>aGg	p.M291R	EPHX2_ENST00000517536.1_Missense_Mutation_p.M108R|EPHX2_ENST00000380476.3_Missense_Mutation_p.M238R|EPHX2_ENST00000518379.1_Missense_Mutation_p.M259R|EPHX2_ENST00000521780.1_Missense_Mutation_p.M225R	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	291	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GTCCTAGCTATGGACATGAAA	0.567000											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	408					0	0	0.217242	0	0
ANO6	196527	broad.mit.edu	37	12	45744489	45744489	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:45744489G>T	ENST00000320560.8	+	7	997	c.795G>T	c.(793-795)cgG>cgT	p.R265R	ANO6_ENST00000423947.3_Silent_p.R286R|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.R247R|ANO6_ENST00000435642.1_Silent_p.R265R|ANO6_ENST00000425752.2_Silent_p.R265R	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	265					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.R265R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTAATGAACGGTACCTTCTGT	0.493000													16	29					3.32936e-07	3.6302e-07	0.175082	1	0
TUB	7275	broad.mit.edu	37	11	8122429	8122429	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:8122429G>A	ENST00000305253.4	+	12	1678	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	TUB_ENST00000534099.1_Silent_p.E430E|TUB_ENST00000299506.2_Silent_p.E424E	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	424					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.E479E(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GTATCATCGAGCTGCAAAACA	0.547000													57	74					0	0	0.139131	0	0
TMEM71	137835	broad.mit.edu	37	8	133771110	133771110	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:133771110G>C	ENST00000356838.3	-	2	158	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	TMEM71_ENST00000523829.1_Missense_Mutation_p.Q6E|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.Q6E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	6						integral to membrane		p.Q6E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GACATCAGTTGAGATATTCGG	0.348000													32	102					0	0	0.098360	0	0
FGR	2268	broad.mit.edu	37	1	27943704	27943704	+	Splice_Site	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:27943704C>A	ENST00000374005.3	-	6	820	c.532_splice	c.e6+1	p.G178_splice	FGR_ENST00000374004.1_Splice_Site_p.G178_splice|FGR_ENST00000545953.1_Intron|FGR_ENST00000399173.1_Splice_Site_p.G178_splice	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	178	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G178C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCACCCCTACCTTTGGTGGTC	0.602000													53	66					4.33383e-22	5.73269e-22	0.139131	1	0
GPR112	139378	broad.mit.edu	37	X	135433701	135433701	+	Splice_Site	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:135433701G>T	ENST00000394143.1	+	7	7113		c.e7+1		GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAAAATTCGGTAAAATAATC	0.274000													13	18					6.81908e-15	8.31147e-15	0.119110	1	0
TBC1D31	93594	broad.mit.edu	37	8	124132407	124132407	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:124132407G>C	ENST00000287380.1	+	11	1639	c.1549G>C	c.(1549-1551)Gaa>Caa	p.E517Q	TBC1D31_ENST00000378080.2_Missense_Mutation_p.E412Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E394Q|TBC1D31_ENST00000522420.1_Missense_Mutation_p.E412Q|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E150Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E517Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E517Q	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.E517Q(1)									CATCTGTTTTGAAGTTATTGC	0.333000													6	7					0	0	0.029380	0	0
TBC1D15	64786	broad.mit.edu	37	12	72266764	72266764	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:72266764G>A	ENST00000550746.1	+	3	249	c.185G>A	c.(184-186)aGt>aAt	p.S62N	TBC1D15_ENST00000319106.8_Missense_Mutation_p.S70N|TBC1D15_ENST00000485960.2_Missense_Mutation_p.S62N|TBC1D15_ENST00000393309.3_5'UTR	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	62							protein binding|Rab GTPase activator activity	p.S70N(1)|p.S62N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATTCCTCTAGTATTCTCTAT	0.299000													35	52					0	0	0.104719	0	0
ODF3L2	284451	broad.mit.edu	37	19	474645	474645	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:474645A>T	ENST00000315489.4	-	1	338	c.103T>A	c.(103-105)Tgt>Agt	p.C35S	ODF3L2_ENST00000382696.3_Missense_Mutation_p.C35S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	35								p.C35S(1)		large_intestine(1)|lung(2)	3						GCCGTCCCACAGGACTTCCTC	0.672000													8	8					0	0	0.105934	0	0
NOL4	8715	broad.mit.edu	37	18	31432983	31432983	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:31432983G>A	ENST00000261592.5	-	11	2037	c.1740C>T	c.(1738-1740)agC>agT	p.S580S	NOL4_ENST00000535475.1_Silent_p.S361S|NOL4_ENST00000269185.4_Silent_p.S364S|NOL4_ENST00000589544.1_Silent_p.S478S|NOL4_ENST00000535384.1_Silent_p.S295S|NOL4_ENST00000538587.1_Silent_p.S506S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	580						nucleolus	RNA binding	p.S580S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCTCTTCATGCTGAGATCAG	0.418000													18	28					0	0	0.204396	0	0
DMD	1756	broad.mit.edu	37	X	32867855	32867855	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:32867855C>T	ENST00000357033.4	-	3	382	c.176G>A	c.(175-177)gGg>gAg	p.G59E	DMD_ENST00000378677.2_Missense_Mutation_p.G55E|DMD_ENST00000288447.4_Missense_Mutation_p.G51E	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	59	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G55E(1)|p.G54E(1)|p.G59E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGTTTTTGCCCTGTCAGGCC	0.383000													49	1					0	0	0.139131	0	0
PTPRD	5789	broad.mit.edu	37	9	8521381	8521381	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:8521381C>G	ENST00000381196.4	-	17	1400	c.857G>C	c.(856-858)aGa>aCa	p.R286T	PTPRD_ENST00000537002.1_Missense_Mutation_p.R283T|PTPRD_ENST00000358503.5_Missense_Mutation_p.R273T|PTPRD_ENST00000355233.5_Missense_Mutation_p.R286T|PTPRD_ENST00000397617.3_Missense_Mutation_p.R276T|PTPRD_ENST00000486161.1_Missense_Mutation_p.R286T|PTPRD_ENST00000356435.5_Missense_Mutation_p.R286T|PTPRD_ENST00000540109.1_Missense_Mutation_p.R286T|PTPRD_ENST00000360074.4_Missense_Mutation_p.R273T|PTPRD_ENST00000397606.3_Missense_Mutation_p.R276T|PTPRD_ENST00000397611.3_Missense_Mutation_p.R283T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	286	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R286T(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGCACATTTCTTCCTATTGG	0.443000										TSP Lung(15;0.13)			38	50					0	0	0.246493	0	0
UBE4A	9354	broad.mit.edu	37	11	118243384	118243384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:118243384G>T	ENST00000431736.2	+	6	796	c.724G>T	c.(724-726)Gag>Tag	p.E242*	UBE4A_ENST00000252108.3_Intron			Q14139	UBE4A_HUMAN	ubiquitination factor E4A	240					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.E242*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGGAGCCCGTGAGTACATGAA	0.393000													63	63					2.79145e-41	4.1699e-41	0.139131	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92844989	92844989	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:92844989G>C	ENST00000394468.2	-	3	517	c.440C>G	c.(439-441)aCa>aGa	p.T147R	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.T135R|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.T170R|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.T135R	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	147						integral to membrane		p.T135R(1)|p.T147R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CACTGGCTTTGTGACAGGATC	0.443000													10	37					0	0	0.080935	0	0
NR3C1	2908	broad.mit.edu	37	5	142780341	142780341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:142780341C>A	ENST00000343796.2	-	2	1057	c.64G>T	c.(64-66)Gag>Tag	p.E22*	NR3C1_ENST00000504572.1_Nonsense_Mutation_p.E22*|NR3C1_ENST00000424646.2_Nonsense_Mutation_p.E22*|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Nonsense_Mutation_p.E22*|NR3C1_ENST00000503201.1_Nonsense_Mutation_p.E22*|NR3C1_ENST00000415690.2_Nonsense_Mutation_p.E22*|NR3C1_ENST00000231509.3_Nonsense_Mutation_p.E22*|NR3C1_ENST00000394466.2_Nonsense_Mutation_p.E22*	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	22	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.E22*(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TCTCCCCTCTCCTGAGCAAGC	0.448000													28	56					3.65163e-15	4.49113e-15	0.116897	1	0
PPP1R7	5510	broad.mit.edu	37	2	242097260	242097260	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:242097260C>G	ENST00000234038.6	+	3	694	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	PPP1R7_ENST00000407025.1_Missense_Mutation_p.L74V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.L74V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L31V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.L74V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.L15V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.L31V	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	74						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.L74V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AACCATCAACCTGGACAGAGA	0.468000													12	12					0	0	0.175082	0	0
TTC22	55001	broad.mit.edu	37	1	55253466	55253466	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:55253466C>A	ENST00000371276.4	-	3	760	c.657G>T	c.(655-657)gaG>gaT	p.E219D	TTC22_ENST00000371274.4_Missense_Mutation_p.E219D	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	219							binding	p.E219_E220>D*(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTTCTGCTCCTCACTGCCCA	0.662000													8	11					0.000673444	0.000693232	0.069234	1	0
STMN3	50861	broad.mit.edu	37	20	62275217	62275217	+	Silent	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:62275217A>C	ENST00000370053.1	-	3	264	c.183T>G	c.(181-183)ccT>ccG	p.P61P	STMN3_ENST00000540534.1_Silent_p.P50P	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	61					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	p.P61P(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			ACAGGTCAGAAGGGGACTTGA	0.612000													42	320					0	0	0.131918	0	0
YLPM1	56252	broad.mit.edu	37	14	75295991	75295991	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:75295991A>G	ENST00000325680.7	+	19	6363	c.6239A>G	c.(6238-6240)tAt>tGt	p.Y2080C	YLPM1_ENST00000552421.1_Missense_Mutation_p.Y1374C	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.Y2080C(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGGAGGATTATCTTCAGCTC	0.483000													31	63					0	0	0.173368	0	0
TECPR2	9895	broad.mit.edu	37	14	102900761	102900761	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:102900761G>T	ENST00000359520.7	+	9	1833	c.1607G>T	c.(1606-1608)gGt>gTt	p.G536V	TECPR2_ENST00000558678.1_Missense_Mutation_p.G536V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	536							protein binding	p.G536V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAAGTGAACGGTGTCCCACAG	0.493000													61	46					5.86059e-21	7.63141e-21	0.139131	1	0
VENTX	27287	broad.mit.edu	37	10	135051554	135051554	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:135051554C>A	ENST00000325980.9	+	1	647	c.136C>A	c.(136-138)Cct>Act	p.P46T		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	46					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P46T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GGGGAGCCTCCCTGGCCCAGG	0.701000													4	1					0.014758	0.0149647	0.184627	1	0
MICALCL	84953	broad.mit.edu	37	11	12376383	12376383	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:12376383A>G	ENST00000256186.2	+	8	2173	c.1882A>G	c.(1882-1884)Aga>Gga	p.R628G		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	628					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.R628G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCAGAAACTGAGAGAGAAAAT	0.463000													11	26					0	0	0.175082	0	0
ABCC8	6833	broad.mit.edu	37	11	17491753	17491753	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:17491753G>A	ENST00000302539.4	-	3	432	c.307C>T	c.(307-309)Cat>Tat	p.H103Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.H103Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	103					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.H103Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGTGCAGATGGTGGGATTCG	0.537000													10	43					0	0	0.093190	0	0
CDK12	51755	broad.mit.edu	37	17	37657618	37657618	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:37657618A>C	ENST00000447079.4	+	6	2568	c.2535A>C	c.(2533-2535)gaA>gaC	p.E845D	CDK12_ENST00000430627.2_Missense_Mutation_p.E845D	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	845	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E845D(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCTAATGGAAGGATTGGAAT	0.358000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			76	96					0	0	0.139131	0	0
PIGL	9487	broad.mit.edu	37	17	16203251	16203251	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:16203251A>G	ENST00000225609.5	+	3	402	c.385A>G	c.(385-387)Aga>Gga	p.R129G	PIGL_ENST00000395844.3_Missense_Mutation_p.R129G|PIGL_ENST00000498772.2_Missense_Mutation_p.R129G|PIGL_ENST00000581006.1_Missense_Mutation_p.R129G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	129					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	p.R129G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GCACGTGGCCAGAGTCCTCCT	0.512000													98	44					0	0	0.139131	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43506963	43506963	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:43506963C>A	ENST00000528273.1	-	5	2073	c.683G>T	c.(682-684)gGa>gTa	p.G228V	ARHGAP27_ENST00000290470.3_Missense_Mutation_p.G228V|ARHGAP27_ENST00000442348.1_Intron|ARHGAP27_ENST00000532891.2_Intron|ARHGAP27_ENST00000428638.1_Intron			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	636					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	p.G228V(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCACCCGCCTCCGCGCCCCAG	0.731000													4	1					0.00024832	0.00025757	0.150653	1	0
CHRM5	1133	broad.mit.edu	37	15	34356223	34356223	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:34356223C>G	ENST00000383263.5	+	3	1975	c.1305C>G	c.(1303-1305)gtC>gtG	p.V435V	CHRM5_ENST00000557872.1_Silent_p.V435V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	435					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.V435V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TGGTCCTAGTCAAAGAGAGGA	0.522000													5	55					0	0	0.217242	0	0
EDNRB	1910	broad.mit.edu	37	13	78492680	78492680	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:78492680C>A	ENST00000377211.4	-	2	451	c.299G>T	c.(298-300)cGc>cTc	p.R100L	EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.R10L|EDNRB_ENST00000334286.5_Missense_Mutation_p.R10L	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.R100L(1)|p.R10L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AACCAGGGCGCGTCCGCACAG	0.647000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	23					2.24059e-21	2.93167e-21	0.116897	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933482	209933482	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:209933482G>A	ENST00000367024.1	+	3	614	c.98G>A	c.(97-99)cGc>cAc	p.R33H	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R33H|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R33H|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R33H|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R33H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	33						integral to membrane	protein binding	p.R33H(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CGTGAAAGCCGCCGCTGCCGT	0.622000													18	26					0	0	0.234183	0	0
PTPN11	5781	broad.mit.edu	37	12	112924336	112924336	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:112924336G>A	ENST00000351677.2	+	11	1480	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	PTPN11_ENST00000392597.1_Missense_Mutation_p.V428M	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	432	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.V428M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGACCACGGCGTGCCCAGCGA	0.572000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				4	96					0	0	0.217242	0	0
CENPF	1063	broad.mit.edu	37	1	214830356	214830356	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214830356G>A	ENST00000366955.3	+	18	8734	c.8566G>A	c.(8566-8568)Gag>Aag	p.E2856K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2952	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E2856K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAAACCAAGGAGGCAGATGA	0.383000													37	148					0	0	0.183431	0	0
MOGAT2	80168	broad.mit.edu	37	11	75428947	75428947	+	Missense_Mutation	SNP	C	C	T	rs146774065		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:75428947C>T	ENST00000198801.5	+	1	84	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	5					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.A5V(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GTAGAGTTCGCGCCCTTGTTT	0.577000													5	34					0	0	0.038147	0	0
SCN3A	6328	broad.mit.edu	37	2	165987863	165987863	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:165987863T>C	ENST00000360093.3	-	16	2947	c.2456A>G	c.(2455-2457)tAt>tGt	p.Y819C	SCN3A_ENST00000409101.3_Missense_Mutation_p.Y770C|SCN3A_ENST00000283254.7_Missense_Mutation_p.Y819C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	819						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Y819C(1)|p.Y770C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTTGGAAATAGTAATAAGG	0.398000													40	46					0	0	0.104719	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685692	108685692	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:108685692G>T	ENST00000397688.2	-	3	1411	c.1042C>A	c.(1042-1044)Cat>Aat	p.H348N	CMKLR1_ENST00000550402.1_Missense_Mutation_p.H350N|CMKLR1_ENST00000312143.7_Missense_Mutation_p.H350N|CMKLR1_ENST00000412676.1_Missense_Mutation_p.H350N|CMKLR1_ENST00000552995.1_Missense_Mutation_p.H348N	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	350					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.H348N(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAGCTTCTATGGCTGGGGTAG	0.483000													66	46					1.43987e-31	2.05209e-31	0.139131	1	0
ANGPT4	51378	broad.mit.edu	37	20	870983	870983	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:870983C>T	ENST00000381922.3	-	2	440	c.338G>A	c.(337-339)aGg>aAg	p.R113K	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R113K	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	113					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R113K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTTCGACCTCAAGATCGT	0.642000													15	19					0	0	0.160694	0	0
IFNA4	3441	broad.mit.edu	37	9	21187458	21187458	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:21187458C>A	ENST00000421715.1	-	1	140	c.73G>T	c.(73-75)Gat>Tat	p.D25Y		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	25					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.D25Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGAGGCAGATCACAGCCCAGA	0.502000													20	30					4.02929e-09	4.52046e-09	0.153744	1	0
AGMO	392636	broad.mit.edu	37	7	15427053	15427053	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:15427053C>A	ENST00000342526.3	-	9	1104	c.935G>T	c.(934-936)gGt>gTt	p.G312V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	312					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.G312V(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTCACTGAGACCAAGTCTTGG	0.433000													55	98					5.76465e-13	6.86448e-13	0.139131	1	0
METTL3	56339	broad.mit.edu	37	14	21969067	21969067	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:21969067G>C	ENST00000298717.4	-	5	1255	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	368					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	p.L368L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAGGTGGGAAGAGTCGGTCTG	0.512000													12	23					0	0	0.105934	0	0
MYLK3	91807	broad.mit.edu	37	16	46781676	46781676	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:46781676C>T	ENST00000394809.4	-	1	545	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	144					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.G144R(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCACACGCCCCTGCATGAGG	0.662000													48	66					0	0	0.139131	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131774573	131774573	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:131774573A>G	ENST00000372564.3	-	6	711	c.566T>C	c.(565-567)gTg>gCg	p.V189A	SH3GLB2_ENST00000416629.1_Intron|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.V189A|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.V189A|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.V193A	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	189	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	p.V189A(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						AAAGTCAGGCACCGTCTGGCG	0.637000													4	2					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179583172	179583172	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179583172T>C	ENST00000589042.1	-	85	24885	c.24661A>G	c.(24661-24663)Atg>Gtg	p.M8221V	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M7904V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M6977V|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7904	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M6977V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGTCATAGTAATACTG	0.418000													24	31					0	0	0.076483	0	0
PPIG	9360	broad.mit.edu	37	2	170489708	170489708	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:170489708G>C	ENST00000260970.3	+	12	1188	c.968G>C	c.(967-969)cGa>cCa	p.R323P	PPIG_ENST00000409714.3_Missense_Mutation_p.R308P|PPIG_ENST00000462903.1_Missense_Mutation_p.R323P|PPIG_ENST00000448752.2_Missense_Mutation_p.R323P|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	323					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R323P(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TACCAGAGACGACTTTTAGTT	0.393000													37	34					0	0	0.111260	0	0
CABYR	26256	broad.mit.edu	37	18	21736412	21736412	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:21736412T>C	ENST00000399481.2	+	2	805	c.653T>C	c.(652-654)aTa>aCa	p.I218T	CABYR_ENST00000581397.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	316					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	p.I316T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CCAGAACAAATAGTTATCCCT	0.378000													46	51					0	0	0.139131	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501606	6501606	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:6501606C>T	ENST00000264071.2	-	2	457	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBB4A_ENST00000601152.1_Intron|TUBB4A_ENST00000540257.1_Missense_Mutation_p.G29D|TUBB4A_ENST00000598006.1_Intron|TUBB4A_ENST00000596926.1_Missense_Mutation_p.G29D			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	29					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G29D(1)									GGGGTCGATGCCATGTTCGTC	0.587000													56	46					0	0	0.139131	0	0
SLIT3	6586	broad.mit.edu	37	5	168187941	168187941	+	Splice_Site	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:168187941C>T	ENST00000519560.1	-	16	2030	c.1610_splice	c.e16-1	p.L537_splice	SLIT3_ENST00000332966.8_Splice_Site_p.L537_splice|SLIT3_ENST00000404867.3_Splice_Site_p.L537_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	537					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.L537L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTCAGTCGCCTGTGTAGGA	0.532000													36	67					0	0	0.203993	0	0
RHCG	51458	broad.mit.edu	37	15	90030080	90030080	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:90030080C>A	ENST00000268122.4	-	2	389	c.321G>T	c.(319-321)caG>caT	p.Q107H	RHCG_ENST00000544600.1_Missense_Mutation_p.Q107H	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	107					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.Q107H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GGAACCAGCCCTGCATGAGCA	0.652000													17	18					3.5997e-14	4.3679e-14	0.069288	1	0
PTPN20B	26095	broad.mit.edu	37	10	48771317	48771317	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:48771317G>C	ENST00000395668.1	-	6	610	c.338C>G	c.(337-339)cCa>cGa	p.P113R	PTPN20B_ENST00000395662.3_Missense_Mutation_p.P113R|PTPN20B_ENST00000395674.2_Intron|PTPN20B_ENST00000509544.1_Intron|PTPN20B_ENST00000512321.1_Intron|PTPN20B_ENST00000509753.1_Missense_Mutation_p.P166R|PTPN20B_ENST00000507417.1_Missense_Mutation_p.P166R|PTPN20B_ENST00000374233.3_Missense_Mutation_p.P194R|PTPN20B_ENST00000509230.1_Missense_Mutation_p.P185R|PTPN20B_ENST00000395660.2_Missense_Mutation_p.P166R|PTPN20B_ENST00000374235.2_Intron|PTPN20B_ENST00000374240.3_Missense_Mutation_p.P194R|PTPN20B_ENST00000510840.1_Intron|PTPN20B_ENST00000511387.1_Intron|PTPN20B_ENST00000509631.1_Missense_Mutation_p.P113R|PTPN20B_ENST00000514491.1_Missense_Mutation_p.P185R|PTPN20B_ENST00000514592.1_Intron|PTPN20B_ENST00000395661.3_Intron|PTPN20B_ENST00000502266.1_Missense_Mutation_p.P113R|PTPN20B_ENST00000331650.4_Missense_Mutation_p.P113R|PTPN20B_ENST00000512924.1_Intron|PTPN20B_ENST00000515532.1_Missense_Mutation_p.P194R	NM_001042363.3	NP_001035822.1			protein tyrosine phosphatase, non-receptor type 20B									p.P194R(1)		large_intestine(1)|lung(1)	2				Kidney(211;0.201)		TAGCTTACATGGAAGAATATC	0.353000													6	2					0	0	0.029380	0	0
ETV3L	440695	broad.mit.edu	37	1	157062682	157062682	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:157062682T>C	ENST00000454449.2	-	5	1129	c.845A>G	c.(844-846)cAt>cGt	p.H282R		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	282	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H282R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCCTGGAAAATGCCAGGCCCC	0.637000													26	57					0	0	0.163468	0	0
ART4	420	broad.mit.edu	37	12	14993793	14993793	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:14993793G>C	ENST00000228936.4	-	2	820	c.439C>G	c.(439-441)Cca>Gca	p.P147A	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	147					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	p.P147A(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TACTGCTGTGGAGTCCTGGCA	0.443000													16	79					0	0	0.175082	0	0
NRAP	4892	broad.mit.edu	37	10	115356858	115356858	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:115356858A>G	ENST00000369358.4	-	37	4686	c.4442T>C	c.(4441-4443)aTg>aCg	p.M1481T	NRAP_ENST00000369360.3_Missense_Mutation_p.M1446T|NRAP_ENST00000359988.3_Missense_Mutation_p.M1473T|NRAP_ENST00000360478.3_Missense_Mutation_p.M1438T			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1473						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.M1473T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTGCAGTGCATATAGCTGTT	0.493000													69	19					0	0	0.139131	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559991	45559991	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:45559991G>T	ENST00000347644.3	+	12	1261	c.1196G>T	c.(1195-1197)cGt>cTt	p.R399L	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	399					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.R399L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AAGCTGCCCCGTGGGTGAGTC	0.547000													60	30					1.05635e-38	1.55657e-38	0.139131	1	0
CD86	942	broad.mit.edu	37	3	121838334	121838334	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:121838334A>G	ENST00000330540.2	+	7	1059	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	CD86_ENST00000493101.1_Missense_Mutation_p.K203E|CD86_ENST00000469710.1_Missense_Mutation_p.K233E|CD86_ENST00000264468.5_Missense_Mutation_p.K102E|CD86_ENST00000393627.2_Missense_Mutation_p.K309E	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	315					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.K315E(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GCGTGTTTTTAAAAGTTCGAA	0.323000													33	44					0	0	0.193644	0	0
ANK3	288	broad.mit.edu	37	10	62023774	62023774	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:62023774C>G	ENST00000280772.1	-	6	709	c.518G>C	c.(517-519)gGc>gCc	p.G173A	ANK3_ENST00000503366.1_Missense_Mutation_p.G156A|ANK3_ENST00000373827.2_Missense_Mutation_p.G167A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	173					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G173A(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGTGTGAAGCCATCCTGCAA	0.428000													14	5					0	0	0.146539	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229891	87229891	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:87229891T>A	ENST00000297524.3	-	3	1090	c.987A>T	c.(985-987)acA>acT	p.T329T	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.T320T	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	329						integral to membrane	amino acid transmembrane transporter activity	p.T329T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GACTATTAAGTGTATTAAATA	0.353000													41	58					0	0	0.139131	0	0
RAB27B	5874	broad.mit.edu	37	18	52546615	52546615	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:52546615G>C	ENST00000262094.5	+	3	690	c.169G>C	c.(169-171)Gga>Cga	p.G57R	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	57					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.G57R(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TAATGCACAAGGACCGAATGG	0.398000													51	80					0	0	0.139131	0	0
ABCA3	21	broad.mit.edu	37	16	2333253	2333253	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:2333253G>A	ENST00000301732.5	-	26	4669	c.3969C>T	c.(3967-3969)ctC>ctT	p.L1323L	ABCA3_ENST00000382381.3_Silent_p.L1265L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1323					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L1323L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGTCTCGATGAGGAAGAGCA	0.657000													28	26					0	0	0.183431	0	0
RPF1	80135	broad.mit.edu	37	1	84962049	84962049	+	Missense_Mutation	SNP	A	A	G	rs147803982	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:84962049A>G	ENST00000370654.5	+	8	1019	c.1004A>G	c.(1003-1005)cAt>cGt	p.H335R		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	335					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	p.H335R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GAATGGGTCCATAAGGTATGT	0.378000													34	45					0	0	0.203993	0	0
ABCA8	10351	broad.mit.edu	37	17	66928445	66928445	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:66928445G>T	ENST00000269080.2	-	6	918	c.781C>A	c.(781-783)Cgg>Agg	p.R261R	ABCA8_ENST00000586539.1_Silent_p.R261R|ABCA8_ENST00000430352.2_Silent_p.R261R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	261						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R261R(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTGAATCCCGAAGACCCATC	0.383000													33	31					3.76114e-14	4.55362e-14	0.203993	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758423	25758423	+	RNA	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:25758423T>C	ENST00000586223.1	+	0	2857					NR_033892.1																						cttatgaaaatttattaagat	0.448000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	11					0	0	0.080935	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968029	64968029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:64968029G>T	ENST00000399262.2	-	10	3618	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	JMJD1C_ENST00000402544.1_Missense_Mutation_p.Q915K|JMJD1C_ENST00000399251.1_Missense_Mutation_p.Q915K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q952K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1134					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.Q915K(1)|p.Q1134K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTCAGAGTTTGAGGATTAGCT	0.403000													93	34					1.97301e-41	2.95544e-41	0.139131	1	0
KRT35	3886	broad.mit.edu	37	17	39636931	39636931	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:39636931A>T	ENST00000246639.2	-	1	461	c.329T>A	c.(328-330)aTg>aAg	p.M110K	KRT35_ENST00000393989.1_Missense_Mutation_p.M140K			Q92764	KRT35_HUMAN	keratin 35	140	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.M140K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GTCAGGGCACATGTAGGGGAC	0.592000													46	73					0	0	0.139131	0	0
OR6C1	390321	broad.mit.edu	37	12	55715172	55715172	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:55715172A>G	ENST00000379668.2	+	1	827	c.789A>G	c.(787-789)aaA>aaG	p.K263K		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K263K(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CCTCAGCAAAAGATAGAGTGT	0.443000													48	68					0	0	0.139131	0	0
SLC35F1	222553	broad.mit.edu	37	6	118598702	118598702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:118598702G>A	ENST00000360388.4	+	6	1041	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	280					transport	integral to membrane		p.W280*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGGGACTGGCAAATAGGTA	0.433000													5	190					0	0	0.029380	0	0
SLC26A6	65010	broad.mit.edu	37	3	48665887	48665887	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:48665887C>T	ENST00000358747.6	-	15	1967	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	SLC26A6_ENST00000420764.2_Missense_Mutation_p.E594K|SLC26A6_ENST00000455886.2_Missense_Mutation_p.E558K|SLC26A6_ENST00000395550.2_Missense_Mutation_p.E594K|SLC26A6_ENST00000383733.3_Missense_Mutation_p.E594K|SLC26A6_ENST00000337000.8_Missense_Mutation_p.E487K	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6									p.E594K(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCTTCTCCTCTTTCTGCAGT	0.572000													44	24					0	0	0.139131	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95067575	95067575	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:95067575C>T	ENST00000379982.3	+	2	523	c.15C>T	c.(13-15)atC>atT	p.I5I	RHOBTB3_ENST00000506817.1_Silent_p.I5I|RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	5	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	p.I5I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCATCCACATCGTGGCGCTGG	0.677000													3	45					0	0	0.115264	0	0
DDRGK1	65992	broad.mit.edu	37	20	3180739	3180739	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:3180739C>A	ENST00000354488.3	-	4	475	c.418G>T	c.(418-420)Gct>Tct	p.A140S	DDRGK1_ENST00000380201.2_Missense_Mutation_p.A140S	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	140						endoplasmic reticulum	protein binding	p.E139_A140>DS(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TCACGTTCAGCCTCCTCTGCC	0.637000													19	21					1.87028e-06	2.00903e-06	0.234183	1	0
VPS41	27072	broad.mit.edu	37	7	38791787	38791787	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:38791787G>A	ENST00000310301.4	-	22	1969	c.1915C>T	c.(1915-1917)Cca>Tca	p.P639S	VPS41_ENST00000395969.2_Missense_Mutation_p.P614S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	639					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.P639S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTTTCAAGTGGGCAATGGGTA	0.433000													68	101					0	0	0.139131	0	0
MDM2	4193	broad.mit.edu	37	12	69218142	69218142	+	Splice_Site	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:69218142G>T	ENST00000462284.1	+	6	660		c.e6-1		MDM2_ENST00000540827.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Splice_Site|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase						cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTTCTCTCAGAATCATCGGA	0.448000			A		"""sarcoma, glioma, colorectal, other"""								12	27					2.27111e-07	2.48381e-07	0.093190	1	0
NRP2	8828	broad.mit.edu	37	2	206659486	206659486	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:206659486G>C	ENST00000360409.3	+	17	3291	c.2500G>C	c.(2500-2502)Gag>Cag	p.E834Q	NRP2_ENST00000357785.5_Missense_Mutation_p.E829Q|NRP2_ENST00000540841.1_Missense_Mutation_p.E812Q|NRP2_ENST00000412873.2_Missense_Mutation_p.E812Q|NRP2_ENST00000540178.1_Missense_Mutation_p.E829Q	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	834					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.E834Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGATGAATACGAGGTGGACTG	0.532000													5	176					0	0	0.217242	0	0
LSMD1	84316	broad.mit.edu	37	17	7760052	7760052	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:7760052G>C	ENST00000333775.5	-	2	949	c.519C>G	c.(517-519)ctC>ctG	p.L173L	LSMD1_ENST00000575771.1_Silent_p.L73L|LSMD1_ENST00000335155.5_Silent_p.L125L|LSMD1_ENST00000575071.1_Silent_p.L83L|LSMD1_ENST00000575208.1_Silent_p.L73L|LSMD1_ENST00000576384.1_Silent_p.L83L|LSMD1_ENST00000576861.1_Silent_p.L99L	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	125						cytoplasm|nucleus		p.L173L(1)		endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				ATCGTGGTCAGAGATACGGAG	0.592000											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	98					0	0	0.116897	0	0
ZNF536	9745	broad.mit.edu	37	19	30934685	30934685	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:30934685G>C	ENST00000355537.3	+	2	363	c.216G>C	c.(214-216)atG>atC	p.M72I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.M72I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGTGCCCATGAGCGGCCAGC	0.687000													21	44					0	0	0.083992	0	0
PRKDC	5591	broad.mit.edu	37	8	48733455	48733455	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:48733455T>G	ENST00000314191.2	-	67	9214	c.9158A>C	c.(9157-9159)cAg>cCg	p.Q3053P	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q3053P|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3054	FAT.|KIP-binding.				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	p.Q3053P(1)|p.Q3054P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCCTCTCCCTGGAGCAGCAG	0.453000								Non-homologous end-joining					21	45					0	0	0.099896	0	0
TMPO	7112	broad.mit.edu	37	12	98927517	98927517	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:98927517C>G	ENST00000266732.4	+	4	1720	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.F494L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTTTCCCTTCCATGAATCTA	0.413000													17	65					0	0	0.204396	0	0
ATP10B	23120	broad.mit.edu	37	5	160097559	160097559	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:160097559G>A	ENST00000327245.5	-	7	1432	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	196					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	p.P196S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCCATTGGGGTCAGAGGAA	0.498000													86	113					0	0	0.139131	0	0
EDEM3	80267	broad.mit.edu	37	1	184688331	184688331	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:184688331A>C	ENST00000318130.8	-	11	1392	c.1126T>G	c.(1126-1128)Tat>Gat	p.Y376D	EDEM3_ENST00000367512.3_Missense_Mutation_p.Y333D	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	376					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.Y333D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCACCTGATATAACATTTCA	0.313000													17	64					0	0	0.189662	0	0
UBA6	55236	broad.mit.edu	37	4	68500215	68500215	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:68500215T>C	ENST00000322244.4	-	21	1923	c.1864A>G	c.(1864-1866)Ata>Gta	p.I622V		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	622					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.I622V(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CAAAATGGTATTTCCTCTTCT	0.333000													7	22					0	0	0.029380	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235819	33235819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:33235819C>T	ENST00000401073.2	+	6	1109	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.Q299*|KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.Q288*|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	288	Ser-rich.							p.Q347*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CATCTCCCCCCAGGCCACCTA	0.662000													46	49					0	0	0.139131	0	0
GRID2	2895	broad.mit.edu	37	4	94137997	94137997	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:94137997C>T	ENST00000282020.4	+	6	1156	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.R205C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	300					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R300C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCGGTGTTTCCGTGGCAACCA	0.418000													22	71					0	0	0.076483	0	0
ISLR	3671	broad.mit.edu	37	15	74467991	74467991	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:74467991C>A	ENST00000249842.3	+	2	1149	c.792C>A	c.(790-792)gcC>gcA	p.A264A	ISLR_ENST00000395118.1_Silent_p.A264A|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	264	Ig-like.				cell adhesion	extracellular region		p.A264A(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCAGCCGGCCCCTCAGCTTC	0.647000													63	83					3.13765e-25	4.25405e-25	0.139131	1	0
LPHN2	23266	broad.mit.edu	37	1	82456749	82456749	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:82456749A>T	ENST00000370728.1	+	25	4945	c.4300A>T	c.(4300-4302)Ata>Tta	p.I1434L	LPHN2_ENST00000394879.1_Missense_Mutation_p.I1436L|LPHN2_ENST00000370723.1_Missense_Mutation_p.I1436L|LPHN2_ENST00000319517.6_Missense_Mutation_p.I1378L|LPHN2_ENST00000370727.1_Missense_Mutation_p.I1406L|LPHN2_ENST00000370730.1_Missense_Mutation_p.I1391L|LPHN2_ENST00000271029.4_Missense_Mutation_p.I1406L|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.I1449L|LPHN2_ENST00000370721.1_Missense_Mutation_p.I1359L|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.I1391L|LPHN2_ENST00000359929.3_Missense_Mutation_p.I1378L|LPHN2_ENST00000370725.1_Missense_Mutation_p.I1449L			O95490	LPHN2_HUMAN	latrophilin 2	1434					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.I1378L(1)|p.I1449L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		tgatggttatataatccccat	0.413000													19	30					0	0	0.175082	0	0
MAATS1	89876	broad.mit.edu	37	3	119466715	119466715	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:119466715C>T	ENST00000273390.5	+	16	2186	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.I703I(1)									GTTTTCTGATCCCAGAGGTGC	0.299000													10	87					0	0	0.132662	0	0
OR6C75	390323	broad.mit.edu	37	12	55759747	55759747	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:55759747C>A	ENST00000343399.3	+	1	853	c.853C>A	c.(853-855)Ccc>Acc	p.P285T		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P285T(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCTCTTGAATCCCTTCATATA	0.383000													26	41					1.7881e-09	2.01649e-09	0.134883	1	0
ANO4	121601	broad.mit.edu	37	12	101480521	101480521	+	Silent	SNP	G	G	A	rs138063019	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:101480521G>A	ENST00000392979.3	+	16	1876	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A	ANO4_ENST00000299222.9_Silent_p.A60A|ANO4_ENST00000392977.3_Silent_p.A540A|ANO4_ENST00000550015.1_Silent_p.A60A	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	540						chloride channel complex	chloride channel activity	p.A505A(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTAAGTGGGCGTTAATCAGGA	0.502000										HNSCC(74;0.22)			100	126					0	0	0.139131	0	0
HDAC8	55869	broad.mit.edu	37	X	71791953	71791953	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:71791953T>C	ENST00000439122.2	-	2	404	c.118A>G	c.(118-120)Atg>Gtg	p.M40V	HDAC8_ENST00000373560.2_Missense_Mutation_p.M40V|HDAC8_ENST00000373571.1_Missense_Mutation_p.M40V|HDAC8_ENST00000373583.1_Missense_Mutation_p.M40V|HDAC8_ENST00000373589.4_Missense_Mutation_p.M40V|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373559.4_Missense_Mutation_p.M40V|HDAC8_ENST00000373556.3_Missense_Mutation_p.M40V|HDAC8_ENST00000373561.4_Missense_Mutation_p.M40V|HDAC8_ENST00000373554.1_Missense_Mutation_p.M40V|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373573.3_Missense_Mutation_p.M40V	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	40	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.M40V(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GAATGCACCATACTGGCCTAA	0.373000													11	0					0	0	0.080935	0	0
BIRC7	79444	broad.mit.edu	37	20	61869766	61869766	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:61869766G>T	ENST00000217169.3	+	3	682	c.468G>T	c.(466-468)cgG>cgT	p.R156R	BIRC7_ENST00000342412.6_Silent_p.R156R|BIRC7_ENST00000395306.1_Silent_p.R69R	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	156					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	p.R156R(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TCCTGCTCCGGTCAAAAGGAA	0.627000													41	52					4.10826e-27	5.66189e-27	0.139131	1	0
P2RX3	5024	broad.mit.edu	37	11	57114659	57114659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:57114659G>T	ENST00000263314.2	+	3	359	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	109					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.E109*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						ATTCTGCCCAGAGGTGAGGGG	0.522000													9	9					7.03913e-09	7.85662e-09	0.093190	1	0
ZSCAN25	221785	broad.mit.edu	37	7	99220250	99220250	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:99220250C>A	ENST00000394152.2	+	6	995	c.668C>A	c.(667-669)aCt>aAt	p.T223N	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.T223N|ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25									p.T223N(1)									GGGTTCTTTACTGCTGGATCG	0.537000													76	75					3.66258e-25	4.95955e-25	0.139131	1	0
KCNAB3	9196	broad.mit.edu	37	17	7830685	7830685	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:7830685G>A	ENST00000303790.2	-	4	380	c.381C>T	c.(379-381)acC>acT	p.T127T	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	127						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				ACACTTCGGCGGTGTCAAACA	0.498000													52	47					0	0	0.139131	0	0
OR14C36	127066	broad.mit.edu	37	1	248512220	248512220	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248512220C>T	ENST00000317861.1	+	1	144	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T48T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCGTCACCACCTGTGACAGCA	0.433000													61	140					0	0	0.139131	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169613	207169613	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:207169613C>A	ENST00000374423.3	+	5	747	c.361C>A	c.(361-363)Cct>Act	p.P121T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	121							nucleic acid binding|zinc ion binding	p.P121T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACATTCCAGACCTCATAAATC	0.458000													18	22					4.75885e-15	5.83308e-15	0.160694	1	0
CAMK2A	815	broad.mit.edu	37	5	149631370	149631370	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:149631370C>A	ENST00000348628.6	-	9	1301	c.636G>T	c.(634-636)ccG>ccT	p.P212P	CAMK2A_ENST00000398376.3_Silent_p.P212P	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	212	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.P212P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCCAGAACGGGGGGTACC	0.602000													5	13					3.59834e-05	3.76473e-05	0.217242	1	0
TYW1B	441250	broad.mit.edu	37	7	72267537	72267537	+	RNA	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:72267537C>A	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GGTTCTTCCTCCTGGAAGAGA	0.433000													37	55					1.66425e-11	1.94551e-11	0.214465	1	0
SKAP1	8631	broad.mit.edu	37	17	46474063	46474063	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:46474063C>A	ENST00000336915.6	-	2	200	c.131G>T	c.(130-132)gGc>gTc	p.G44V	SKAP1_ENST00000584924.1_Missense_Mutation_p.G44V	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	44					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.G44L(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTGCTGAAAGCCCCGTAGAAT	0.378000													59	97					9.40535e-28	1.30784e-27	0.139131	1	0
PHLDA1	22822	broad.mit.edu	37	12	76424431	76424431	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:76424431G>C	ENST00000266671.5	-	1	3281	c.1091C>G	c.(1090-1092)tCg>tGg	p.S364W	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.S223W			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	364	14 X 2 AA repeats of P-H.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.S364W(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gtgtgggtgcgagtgaggatg	0.662000													5	11					0	0	0.217242	0	0
PRRC2A	7916	broad.mit.edu	37	6	31592974	31592974	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:31592974C>A	ENST00000376033.2	+	6	724	c.490C>A	c.(490-492)Cga>Aga	p.R164R	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Silent_p.R164R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	164	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.R164R(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTACTGTCACGATTCTCTCG	0.552000													70	75					7.62596e-35	1.10424e-34	0.139131	1	0
BIRC3	330	broad.mit.edu	37	11	102206810	102206810	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:102206810G>A	ENST00000263464.3	+	7	4188	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	BIRC3_ENST00000532808.1_Missense_Mutation_p.D480N	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	480	CARD.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.D480N(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ACAAGAACATGATGTTATTAA	0.348000			T	MALT1	MALT								86	93					0	0	0.139131	0	0
GFER	2671	broad.mit.edu	37	16	2035896	2035896	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:2035896C>T	ENST00000248114.6	+	3	491	c.485C>T	c.(484-486)aCc>aTc	p.T162I	GFER_ENST00000569451.1_Silent_p.H96H|GFER_ENST00000567719.1_Missense_Mutation_p.T87I|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	162	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	p.T162I(1)		endometrium(1)|large_intestine(1)|lung(3)	5						GACACCCGCACCCGGGCATGC	0.602000													51	96					0	0	0.139131	0	0
ASTN2	23245	broad.mit.edu	37	9	119737521	119737521	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:119737521C>A	ENST00000313400.4	-	10	1955	c.1855G>T	c.(1855-1857)Gat>Tat	p.D619Y	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.D615Y|ASTN2_ENST00000361209.2_Missense_Mutation_p.D568Y			O75129	ASTN2_HUMAN	astrotactin 2	619						integral to membrane		p.D568Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACGAGCACATCGGTCTTGCAG	0.542000													28	54					3.11337e-16	3.86414e-16	0.173368	1	0
SOCS6	9306	broad.mit.edu	37	18	67992312	67992312	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:67992312G>T	ENST00000397942.3	+	2	724	c.408G>T	c.(406-408)ccG>ccT	p.P136P	SOCS6_ENST00000582322.1_Silent_p.P136P	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	136					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		p.P136P(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTCCCGCGCCGTGGCCTCTGC	0.592000													41	31					1.30091e-30	1.84678e-30	0.246493	1	0
DDRGK1	65992	broad.mit.edu	37	20	3180740	3180740	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:3180740C>A	ENST00000354488.3	-	4	474	c.417G>T	c.(415-417)gaG>gaT	p.E139D	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E139D	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	139						endoplasmic reticulum	protein binding	p.E139_A140>DS(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CACGTTCAGCCTCCTCTGCCT	0.632000													19	21					1.87028e-06	2.00903e-06	0.234183	1	0
FOLH1	2346	broad.mit.edu	37	11	49227674	49227674	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:49227674T>A	ENST00000340334.7	-	3	492	c.124A>T	c.(124-126)Aat>Tat	p.N42Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.N42Y|FOLH1_ENST00000356696.3_Missense_Mutation_p.N57Y|FOLH1_ENST00000256999.2_Missense_Mutation_p.N57Y	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	57					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.N57Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GCTTTCATATTATGCTTTGGA	0.328000													13	16					0	0	0.175082	0	0
OR5L1	219437	broad.mit.edu	37	11	55579396	55579396	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:55579396G>A	ENST00000333973.2	+	1	543	c.454G>A	c.(454-456)Ggg>Agg	p.G152R		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTACTTCTGTGGGACGGTGTG	0.468000													51	87					0	0	0.139131	0	0
AGPS	8540	broad.mit.edu	37	2	178378551	178378551	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:178378551G>T	ENST00000264167.4	+	17	1758	c.1612G>T	c.(1612-1614)Gta>Tta	p.V538L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	538					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.V538L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTAGGGTGGTAGATCTCTG	0.328000													13	50					4.7546e-09	5.31771e-09	0.146539	1	0
HERC6	55008	broad.mit.edu	37	4	89311943	89311943	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:89311943C>A	ENST00000380265.5	+	4	759	c.576C>A	c.(574-576)caC>caA	p.H192Q	HERC6_ENST00000273960.3_Missense_Mutation_p.H192Q|HERC6_ENST00000264346.7_Missense_Mutation_p.H192Q	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	192					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.H192Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAGGGGCTCACAGCTTTGCCC	0.637000													4	44					5.9392e-07	6.44997e-07	0.217242	1	0
MOV10L1	54456	broad.mit.edu	37	22	50563913	50563913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:50563913G>T	ENST00000262794.5	+	11	1745	c.1662G>T	c.(1660-1662)atG>atT	p.M554I	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.M554I|MOV10L1_ENST00000540615.1_Missense_Mutation_p.M534I|MOV10L1_ENST00000395858.3_Missense_Mutation_p.M554I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	554					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.M534I(1)|p.M554I(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGTATAACATGAGCGGGATCA	0.463000													61	15					4.45325e-31	6.33015e-31	0.139131	1	0
SLC36A2	153201	broad.mit.edu	37	5	150715005	150715005	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:150715005G>T	ENST00000335244.4	-	6	758	c.629C>A	c.(628-630)cCc>cAc	p.P210H	SLC36A2_ENST00000521967.1_Missense_Mutation_p.P210H	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	210					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.P210H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAGGAAGGGCAGGAAGGA	0.522000													48	81					1.32667e-27	1.83537e-27	0.139131	1	0
EMILIN1	11117	broad.mit.edu	37	2	27306454	27306454	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:27306454G>A	ENST00000380320.4	+	4	2514	c.2015G>A	c.(2014-2016)gGc>gAc	p.G672D		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	672					cell adhesion	collagen		p.G672D(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCCAGGGCGCTGATCTG	0.567000													56	63					0	0	0.139131	0	0
PIGK	10026	broad.mit.edu	37	1	77629531	77629531	+	Splice_Site	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:77629531C>A	ENST00000370812.3	-	6	607	c.584_splice	c.e6+1	p.R195_splice	PIGK_ENST00000370813.5_Splice_Site_p.R119_splice|PIGK_ENST00000359130.1_Splice_Site_p.R195_splice|PIGK_ENST00000445065.1_Splice_Site_p.R101_splice|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	195					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	p.R195L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGCTAATTACCGTCTTTTCTG	0.299000													11	32					0.000151284	0.000157371	0.105934	1	0
CYFIP1	23191	broad.mit.edu	37	15	22955225	22955225	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:22955225A>G	ENST00000313077.7	+	15	1744	c.1619A>G	c.(1618-1620)aAg>aGg	p.K540R	CYFIP1_ENST00000560848.1_Missense_Mutation_p.K540R	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	540					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.K540R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AAGGACCCCAAGAGCGGCTTC	0.642000													25	40					0	0	0.116897	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576960	33576960	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:33576960G>T	ENST00000504830.1	-	19	3506	c.3171C>A	c.(3169-3171)tcC>tcA	p.S1057S	ADAMTS12_ENST00000352040.3_Silent_p.S972S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1057	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1057S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCTTCTTTGGAGGCTGTGG	0.557000										HNSCC(64;0.19)			26	56					9.65021e-13	1.14662e-12	0.153744	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863200	64863200	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:64863200G>C	ENST00000313349.3	-	2	1103	c.806C>G	c.(805-807)tCa>tGa	p.S269*		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	269					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.S269*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GGCCATTTTTGAGGCTGTCCC	0.512000													12	93					0	0	0.093190	0	0
SUN1	23353	broad.mit.edu	37	7	905691	905691	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:905691G>A	ENST00000456758.2	+	22	2534	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	SUN1_ENST00000389574.3_Missense_Mutation_p.R573H|SUN1_ENST00000452783.2_Missense_Mutation_p.R553H|SUN1_ENST00000405266.1_Missense_Mutation_p.R693H|SUN1_ENST00000413514.2_Missense_Mutation_p.R454H|SUN1_ENST00000401592.1_Missense_Mutation_p.R656H|SUN1_ENST00000425407.2_Missense_Mutation_p.R573H			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	683					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.R656H(1)|p.R573H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTCCCCGCGCGTGGTCATC	0.582000													28	25					0	0	0.134883	0	0
SCN7A	6332	broad.mit.edu	37	2	167318937	167318937	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:167318937A>C	ENST00000409855.1	-	9	1171	c.1045T>G	c.(1045-1047)Tta>Gta	p.L349V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	349					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L349V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGAGCCATTAACCGAAATAGG	0.418000													11	7					0	0	0.093190	0	0
RGS8	85397	broad.mit.edu	37	1	182615882	182615882	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:182615882C>G	ENST00000483095.2	-	7	788	c.531G>C	c.(529-531)agG>agC	p.R177S	RGS8_ENST00000258302.4_Missense_Mutation_p.R195S|RGS8_ENST00000367556.1_Missense_Mutation_p.R177S|RGS8_ENST00000367557.4_Missense_Mutation_p.R177S			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	177					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R195S(1)|p.R177S(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AACTGAGCCTCCTCTGGCTTT	0.483000													170	108					0	0	0.139131	0	0
FAM134B	54463	broad.mit.edu	37	5	16508688	16508688	+	Splice_Site	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:16508688T>C	ENST00000399793.2	-	1	419	c.35_splice	c.e1+1	p.S12_splice	FAM134B_ENST00000306320.9_Intron	NM_019000.4	NP_061873.2	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	153					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		p.S12G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CACAATTACCTTTTGCCTGGT	0.368000													24	39					0	0	0.134883	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033806	37033806	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:37033806C>G	ENST00000322716.5	-	1	989	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	255						endoplasmic reticulum		p.E255Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CCTGAGTTCTCACCAATCATC	0.483000													60	75					0	0	0.139131	0	0
REG3A	5068	broad.mit.edu	37	2	79385532	79385532	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:79385532C>T	ENST00000393878.1	-	3	507	c.253G>A	c.(253-255)Gga>Aga	p.G85R	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.G85R|REG3A_ENST00000409839.3_Missense_Mutation_p.G85R	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	85	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G85*(1)|p.G85R(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACGAAGGATCCCTCAGCCCCA	0.572000													45	62					0	0	0.139131	0	0
FRAS1	80144	broad.mit.edu	37	4	79403083	79403083	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:79403083C>T	ENST00000264895.6	+	57	9009	c.8569C>T	c.(8569-8571)Cgg>Tgg	p.R2857W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2852	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2858W(1)|p.R2857W(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCCAGCTCTCGGAAGGTGGA	0.522000													47	68					0	0	0.131918	0	0
MDGA2	161357	broad.mit.edu	37	14	47426604	47426604	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:47426604C>A	ENST00000426342.1	-	9	1914	c.1168G>T	c.(1168-1170)Gct>Tct	p.A390S	MDGA2_ENST00000357362.3_Missense_Mutation_p.A390S|MDGA2_ENST00000439988.2_Missense_Mutation_p.A619S|MDGA2_ENST00000399232.2_Missense_Mutation_p.A688S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	619	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.A390S(2)|p.A688S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CATCTCCCAGCTCCAGCTTCA	0.368000													29	27					1.39806e-14	1.70021e-14	0.134883	1	0
BAI3	577	broad.mit.edu	37	6	70040437	70040437	+	Silent	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:70040437T>C	ENST00000370598.1	+	23	3896	c.3075T>C	c.(3073-3075)ttT>ttC	p.F1025F	BAI3_ENST00000238918.8_Silent_p.F231F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1025					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F1025F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTATGCTTTTGTGGGACCTG	0.368000													16	28					0	0	0.175082	0	0
PDGFRA	5156	broad.mit.edu	37	4	55130019	55130019	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:55130019G>T	ENST00000257290.5	+	4	884	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.G185W	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	185	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.G185W(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTTCACTGTAGGGCCCTATAT	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			51	47					9.40368e-32	1.34374e-31	0.139131	1	0
ABT1	29777	broad.mit.edu	37	6	26598745	26598745	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:26598745C>T	ENST00000274849.1	+	3	722	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	231					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	p.R231C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCCAGGGGGACGTGAACGGGC	0.657000													16	50					0	0	0.204396	0	0
RGS18	64407	broad.mit.edu	37	1	192153479	192153479	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:192153479C>A	ENST00000367460.3	+	5	684	c.503C>A	c.(502-504)cCt>cAt	p.P168H		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	168	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.P168H(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCACTCAACCTACCCTCCAC	0.348000													21	61					5.45024e-15	6.658e-15	0.083992	1	0
NR4A1	3164	broad.mit.edu	37	12	52451017	52451017	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:52451017G>T	ENST00000545748.1	+	6	2492	c.1497G>T	c.(1495-1497)gaG>gaT	p.E499D	NR4A1_ENST00000360284.3_Missense_Mutation_p.E458D|NR4A1_ENST00000243050.1_Missense_Mutation_p.E445D|NR4A1_ENST00000394824.2_Missense_Mutation_p.E445D|NR4A1_ENST00000394825.1_Missense_Mutation_p.E445D|NR4A1_ENST00000550082.1_Missense_Mutation_p.E458D			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	445					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	p.E445D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTTCCTGGAGCTCTTCATCC	0.607000													13	30					4.3838e-07	4.77513e-07	0.105934	1	0
MMP1	4312	broad.mit.edu	37	11	102667841	102667841	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:102667841C>G	ENST00000315274.6	-	3	470	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	135	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E135Q(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AAGGCTTTCTCAATGGCATGG	0.433000													73	102					0	0	0.139131	0	0
COL6A3	1293	broad.mit.edu	37	2	238280656	238280656	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:238280656C>A	ENST00000295550.4	-	9	4456	c.4004G>T	c.(4003-4005)gGc>gTc	p.G1335V	COL6A3_ENST00000392003.2_Missense_Mutation_p.G928V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1134V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1135V|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1129V|COL6A3_ENST00000392004.3_Missense_Mutation_p.G1129V|COL6A3_ENST00000472056.1_Missense_Mutation_p.G728V|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1129V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1335	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G1335V(1)|p.G1129V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCGGGACGCCCTCTTCAAT	0.622000													17	20					3.51602e-12	4.15947e-12	0.204396	1	0
CRB2	286204	broad.mit.edu	37	9	126132933	126132933	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:126132933G>T	ENST00000373631.3	+	7	1602	c.1601G>T	c.(1600-1602)cGg>cTg	p.R534L	CRB2_ENST00000373629.2_Missense_Mutation_p.R202L|CRB2_ENST00000359999.3_Missense_Mutation_p.R534L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	534	Laminin G-like 1.		R -> Q.			extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.R534L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGAGCTACGGCTCTGGCAT	0.652000													42	54					4.75955e-12	5.61223e-12	0.139131	1	0
PDCD10	11235	broad.mit.edu	37	3	167413436	167413436	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:167413436T>A	ENST00000392750.2	-	6	760	c.343A>T	c.(343-345)Agt>Tgt	p.S115C	PDCD10_ENST00000497056.2_Missense_Mutation_p.S115C|PDCD10_ENST00000470131.1_Missense_Mutation_p.S115C|PDCD10_ENST00000492396.1_Missense_Mutation_p.S52C|PDCD10_ENST00000487947.2_Missense_Mutation_p.S115C|PDCD10_ENST00000471885.1_Missense_Mutation_p.S115C|PDCD10_ENST00000461494.1_Missense_Mutation_p.S115C|PDCD10_ENST00000473645.2_Missense_Mutation_p.S115C	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	115					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	p.S115C(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GGGATCTTACTGAGAATTTGT	0.338000													143	188					0	0	0.139131	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195935386	195935386	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:195935386G>A	ENST00000296326.3	-	4	533	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	152						integral to membrane	acyltransferase activity|zinc ion binding	p.R152C(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CGGAAGTTGCGGTGACCGATG	0.587000													54	103					0	0	0.139131	0	0
RRP12	23223	broad.mit.edu	37	10	99126871	99126871	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:99126871G>C	ENST00000370992.4	-	26	3085	c.2974C>G	c.(2974-2976)Ctt>Gtt	p.L992V	RRP12_ENST00000414986.1_Missense_Mutation_p.L931V|RRP12_ENST00000315563.6_Missense_Mutation_p.L892V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.L710V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	992						integral to membrane|nuclear membrane|nucleolus	protein binding	p.L992V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCATCTGAAAGCTTCCCAATG	0.602000													41	14					0	0	0.111260	0	0
ZNF695	57116	broad.mit.edu	37	1	247163260	247163260	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:247163260C>G	ENST00000339986.7	-	2	267	c.120G>C	c.(118-120)ctG>ctC	p.L40L	ZNF695_ENST00000487338.2_Silent_p.L40L|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	40	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L40L(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGGGAGATCAGGTTTCTGT	0.433000													51	46					0	0	0.139131	0	0
GP2	2813	broad.mit.edu	37	16	20329700	20329700	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:20329700G>A	ENST00000302555.5	-	7	1209	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F	GP2_ENST00000381360.5_Missense_Mutation_p.L210F|GP2_ENST00000381362.4_Missense_Mutation_p.L357F|GP2_ENST00000341642.5_Missense_Mutation_p.L207F			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	357	ZP.					anchored to membrane|extracellular region|plasma membrane		p.L354F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCTTGGAAGAGGGCCATCCTG	0.488000													96	138					0	0	0.139131	0	0
ANKRD1	27063	broad.mit.edu	37	10	92675309	92675309	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:92675309G>C	ENST00000371697.3	-	8	1088	c.840C>G	c.(838-840)atC>atG	p.I280M		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	280					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.I280M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CACAGTTCTTGATGTTGAGAT	0.458000													4	26					0	0	0.150653	0	0
ITK	3702	broad.mit.edu	37	5	156679624	156679624	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:156679624A>G	ENST00000422843.3	+	17	1951	c.1799A>G	c.(1798-1800)gAa>gGa	p.E600G	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	600	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E600G(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGAGACCAGAAGATCGGCCA	0.473000			T	SYK	peripheral T-cell lymphoma								32	55					0	0	0.203993	0	0
KIF20A	10112	broad.mit.edu	37	5	137519015	137519015	+	Silent	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:137519015G>C	ENST00000394894.3	+	8	1216	c.990G>C	c.(988-990)cgG>cgC	p.R330R	KIF20A_ENST00000508792.1_Silent_p.R312R	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	330	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	p.R330R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGACTTTGCGGCTATGCGAGG	0.488000													24	55					0	0	0.163468	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146429	5146429	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:5146429C>A	ENST00000274181.7	+	3	500	c.362C>A	c.(361-363)cCt>cAt	p.P121H	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P121H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	121					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P121H(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTAGTGGCTCCTGGCTTTATT	0.537000													71	63					2.05912e-35	2.99358e-35	0.139131	1	0
F13B	2165	broad.mit.edu	37	1	197030920	197030920	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:197030920C>T	ENST00000367412.1	-	3	488	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	149					blood coagulation	extracellular region		p.E149K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATACCATGTTCTTTCCTACAG	0.348000													15	31					0	0	0.146539	0	0
BICD1	636	broad.mit.edu	37	12	32458910	32458910	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:32458910G>T	ENST00000548411.1	+	4	1040	c.859G>T	c.(859-861)Ggt>Tgt	p.G287C	BICD1_ENST00000281474.5_Missense_Mutation_p.G287C	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	287					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.G287C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAAAATGAACGGTCATATCCA	0.443000													36	62					1.07121e-22	1.43267e-22	0.246493	1	0
C4orf27	54969	broad.mit.edu	37	4	170652908	170652908	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:170652908C>G	ENST00000393381.2	-	7	931	c.856G>C	c.(856-858)Gat>Cat	p.D286H		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	286						nucleus		p.D286H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGCCATAATCACATTCATCA	0.443000													23	106					0	0	0.125774	0	0
ZNF618	114991	broad.mit.edu	37	9	116811439	116811439	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:116811439C>T	ENST00000288466.7	+	14	1677	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.C619C	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGACGGATTGCCGGGTGAGCA	0.617000													4	142					0	0	0.184627	0	0
DDX18	8886	broad.mit.edu	37	2	118579626	118579626	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:118579626G>T	ENST00000263239.2	+	6	1068	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	314	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.D314Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCGTCTGCTGGACCATATGCA	0.418000													41	75					3.54909e-21	4.63259e-21	0.124865	1	0
CROCC	9696	broad.mit.edu	37	1	17266430	17266430	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:17266430C>A	ENST00000375541.5	+	13	1719	c.1650C>A	c.(1648-1650)ggC>ggA	p.G550G	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	550					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.G550G(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCTACTGGGCACCCTGCGGA	0.687000													37	109					2.00842e-17	2.5274e-17	0.117977	1	0
MBTPS1	8720	broad.mit.edu	37	16	84099360	84099360	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:84099360G>A	ENST00000343411.3	-	18	2861	c.2366C>T	c.(2365-2367)tCa>tTa	p.S789L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	789					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.S789L(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCTGCACCCTGACGCATAATA	0.433000													45	48					0	0	0.139131	0	0
CEP164	22897	broad.mit.edu	37	11	117267987	117267987	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:117267987A>G	ENST00000278935.3	+	27	3606	c.3459A>G	c.(3457-3459)ccA>ccG	p.P1153P	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1153					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.P1153P(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGACCCACCAGGCATCAAGG	0.642000													3	69					0	0	0.115264	0	0
CENPF	1063	broad.mit.edu	37	1	214818772	214818772	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214818772C>T	ENST00000366955.3	+	13	6027	c.5859C>T	c.(5857-5859)ctC>ctT	p.L1953L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2049					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.L1953L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAAGAACTCTCAGTGGTCA	0.398000													24	144					0	0	0.108266	0	0
PRDM11	56981	broad.mit.edu	37	11	45245962	45245962	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:45245962C>G	ENST00000263765.4	+	8	1288	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	PRDM11_ENST00000530656.1_Missense_Mutation_p.L347V|PRDM11_ENST00000424263.2_Missense_Mutation_p.L313V|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	347								p.L347V(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGAGGCCTCACTGGAATCTGC	0.517000													112	146					0	0	0.139131	0	0
CHD6	84181	broad.mit.edu	37	20	40045257	40045257	+	Missense_Mutation	SNP	C	C	T	rs138675502	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:40045257C>T	ENST00000373233.3	-	33	6634	c.6457G>A	c.(6457-6459)Ggc>Agc	p.G2153S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2153					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.G2153S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATGCTGCGCCGTTGCTGAAG	0.572000													89	59					0	0	0.139131	0	0
ABHD4	63874	broad.mit.edu	37	14	23079849	23079849	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:23079849G>A	ENST00000428304.2	+	7	1094	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	342					lipid catabolic process		hydrolase activity	p.D342N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CGACTCAGTTGATTGAGCTGC	0.517000													4	58					0	0	0.150653	0	0
USH2A	7399	broad.mit.edu	37	1	216062336	216062336	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:216062336G>T	ENST00000366943.2	-	41	8041	c.7655C>A	c.(7654-7656)aCc>aAc	p.T2552N	USH2A_ENST00000307340.3_Missense_Mutation_p.T2552N|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2552	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T2552K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCTGCCAGGTGACCAACAT	0.408000										HNSCC(13;0.011)			51	116					1.83081e-24	2.45767e-24	0.139131	1	0
UGT2B15	7366	broad.mit.edu	37	4	69520853	69520853	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:69520853A>T	ENST00000338206.5	-	4	1062	c.1053T>A	c.(1051-1053)aaT>aaA	p.N351K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	351					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.N351K(1)									ACAGTCGAGTATTGGAACCTA	0.363000													4	103					0	0	0.069234	0	0
PDGFRB	5159	broad.mit.edu	37	5	149515439	149515439	+	Nonsense_Mutation	SNP	C	C	A	rs148853962	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:149515439C>A	ENST00000261799.4	-	3	512	c.43G>T	c.(43-45)Gag>Tag	p.E15*		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	15					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.E15*(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAGCAGCTCGCCTTTGGGA	0.592000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								19	26					7.45023e-12	8.76592e-12	0.219247	1	0
RAD54B	25788	broad.mit.edu	37	8	95412520	95412520	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:95412520T>A	ENST00000336148.5	-	7	1240	c.1116A>T	c.(1114-1116)aaA>aaT	p.K372N		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.K372N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTGAAATTCTTTCTTCCAAT	0.373000								Direct reversal of damage;Homologous recombination					33	29					0	0	0.214465	0	0
PTPRO	5800	broad.mit.edu	37	12	15699587	15699587	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:15699587A>G	ENST00000281171.4	+	13	2579	c.2249A>G	c.(2248-2250)gAt>gGt	p.D750G	PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.D750G|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	750	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D750G(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGAGTAGCTGATTTCTTTGAA	0.428000													31	22					0	0	0.203993	0	0
ZNF669	79862	broad.mit.edu	37	1	247263792	247263792	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:247263792A>T	ENST00000343381.6	-	4	1451	c.1279T>A	c.(1279-1281)Tac>Aac	p.Y427N	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.Y341N	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y427N(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GAACGAGTGTAGGCTTTACCG	0.468000													87	318					0	0	0.139131	0	0
GLI1	2735	broad.mit.edu	37	12	57859454	57859454	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:57859454C>G	ENST00000228682.2	+	6	690	c.599C>G	c.(598-600)tCc>tGc	p.S200C	GLI1_ENST00000546141.1_Missense_Mutation_p.S159C|GLI1_ENST00000543426.1_Missense_Mutation_p.S72C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	200					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.S200C(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGTGATATGTCCAGCCCCAAC	0.562000													41	48					0	0	0.117977	0	0
HCN1	348980	broad.mit.edu	37	5	45645362	45645362	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:45645362C>G	ENST00000303230.4	-	2	831	c.774G>C	c.(772-774)agG>agC	p.R258S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	258						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R258S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTGTAAACCTCACAATGC	0.353000													11	20					0	0	0.069234	0	0
AGPAT3	56894	broad.mit.edu	37	21	45400903	45400903	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:45400903A>G	ENST00000398063.2	+	8	1369	c.877A>G	c.(877-879)Atg>Gtg	p.M293V	AGPAT3_ENST00000291572.8_Missense_Mutation_p.M293V|AGPAT3_ENST00000546158.1_Missense_Mutation_p.M293V|AGPAT3_ENST00000398061.1_Missense_Mutation_p.M293V|AGPAT3_ENST00000327505.2_Missense_Mutation_p.M293V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.M293V	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	293					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.M293V(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCAGAAGGGCATGTTTCCAGG	0.507000													79	113					0	0	0.139131	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495224	32495224	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:32495224G>T	ENST00000266088.4	+	12	1585	c.1335G>T	c.(1333-1335)caG>caT	p.Q445H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.Q318H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	445					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.Q445H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCATTGTGCAGTCAGCACAAA	0.483000													128	199					4.26933e-77	6.71955e-77	0.139131	1	0
CFH	3075	broad.mit.edu	37	1	196714946	196714946	+	Splice_Site	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:196714946G>T	ENST00000367429.4	+	21	3550		c.e21-1			NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation, alternative pathway	extracellular space		p.?(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGTTTTTTAGATTCTACAGG	0.383000													66	169					7.1157e-29	9.98404e-29	0.139131	1	0
CSMD3	114788	broad.mit.edu	37	8	113668392	113668392	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:113668392G>T	ENST00000297405.5	-	18	3239	c.2995C>A	c.(2995-2997)Cat>Aat	p.H999N	CSMD3_ENST00000343508.3_Missense_Mutation_p.H959N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H999N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H895N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	999	CUB 5.					integral to membrane|plasma membrane		p.H959N(1)|p.H999N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTCATAATGAATCTTGAAA	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	23					2.17888e-05	2.30405e-05	0.058154	1	0
GPANK1	7918	broad.mit.edu	37	6	31631770	31631770	+	Silent	SNP	G	G	A	rs142946824	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:31631770G>A	ENST00000375906.1	-	3	1170	c.486C>T	c.(484-486)ctC>ctT	p.L162L	GPANK1_ENST00000375893.2_Silent_p.L162L|GPANK1_ENST00000375896.4_Silent_p.L162L|GPANK1_ENST00000375895.2_Silent_p.L162L|GPANK1_ENST00000375900.4_Silent_p.L162L	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	162						intracellular	nucleic acid binding	p.L162L(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CACGGCCCAGGAGATAGCTCA	0.662000													8	62					0	0	0.069234	0	0
CDH22	64405	broad.mit.edu	37	20	44828182	44828182	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:44828182C>T	ENST00000372262.3	-	7	1703	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	CDH22_ENST00000537909.1_Missense_Mutation_p.E435K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	435	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E435K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AAATCTGATTCGCGGTCAATG	0.607000													26	17					0	0	0.134883	0	0
GABRA5	2558	broad.mit.edu	37	15	27193365	27193365	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:27193365C>A	ENST00000335625.5	+	11	2262	c.1374C>A	c.(1372-1374)gcC>gcA	p.A458A	GABRA5_ENST00000400081.3_Silent_p.A458A|GABRA5_ENST00000355395.5_Silent_p.A458A	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	458					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A458A(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAAAAGGAGCCGCCTCTCCAA	0.483000													2	1					2.7689e-08	3.06526e-08	0.029380	1	0
KIAA0408	9729	broad.mit.edu	37	6	127765277	127765277	+	Missense_Mutation	SNP	G	G	C	rs151145731	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:127765277G>C	ENST00000483725.3	-	6	2398	c.2062C>G	c.(2062-2064)Cga>Gga	p.R688G	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	688							protein binding	p.R688G(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GCTTCGGATCGCAGAGAAATG	0.488000													13	14					0	0	0.105934	0	0
QKI	9444	broad.mit.edu	37	6	163983080	163983080	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:163983080A>G	ENST00000361752.3	+	5	1164	c.613A>G	c.(613-615)Aga>Gga	p.R205G	QKI_ENST00000275262.7_Missense_Mutation_p.R205G|QKI_ENST00000392127.2_Missense_Mutation_p.R205G|QKI_ENST00000361195.2_Missense_Mutation_p.R205G|QKI_ENST00000424802.3_Missense_Mutation_p.R205G|QKI_ENST00000453779.2_Missense_Mutation_p.R205G	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	205					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.R205G(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGGCACCTACAGAGATGCCAA	0.443000													21	34					0	0	0.076483	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129950633	129950633	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:129950633C>A	ENST00000368149.2	-	5	739	c.651G>T	c.(649-651)ctG>ctT	p.L217L		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	217					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.L217L(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CAGGTGGGATCAGCTTCTCTT	0.453000													59	61					1.08141e-31	1.54324e-31	0.139131	1	0
PAX6	5080	broad.mit.edu	37	11	31811521	31811521	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:31811521A>G	ENST00000419022.1	-	14	1740	c.1272T>C	c.(1270-1272)agT>agC	p.S424S	PAX6_ENST00000379129.2_Silent_p.S424S|PAX6_ENST00000379115.4_Silent_p.S424S|PAX6_ENST00000379132.3_Silent_p.S410S|PAX6_ENST00000379123.5_Silent_p.S410S|PAX6_ENST00000379111.2_Silent_p.S410S|PAX6_ENST00000241001.8_Silent_p.S410S|PAX6_ENST00000379107.2_Silent_p.S424S	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	410					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.S424S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TATCAGGTTCACTTCCGGGAA	0.368000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				26	41					0	0	0.134883	0	0
RAB8A	4218	broad.mit.edu	37	19	16238849	16238849	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:16238849A>G	ENST00000300935.3	+	6	701	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.Y143C	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	143					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding	p.Y143C(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GCCCTCGACTATGGAATCAAG	0.617000													25	36					0	0	0.144211	0	0
C19orf47	126526	broad.mit.edu	37	19	40827997	40827997	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:40827997T>C	ENST00000582783.1	-	9	1073	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.K287R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	354								p.K354R(1)|p.K287R(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			GCCCAGTCTCTTGATGATGCT	0.617000													18	12					0	0	0.076483	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767525	77767525	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:77767525G>A	ENST00000521891.2	+	10	8816	c.8368G>A	c.(8368-8370)Gag>Aag	p.E2790K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2764K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2745K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2745K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2745						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E2774K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTCCTGCTGAGGCTGGGTA	0.428000										HNSCC(33;0.089)			15	32					0	0	0.175082	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650093	23650093	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:23650093T>C	ENST00000478691.1	-	5	599	c.328A>G	c.(328-330)Atc>Gtc	p.I110V	HNRNPR_ENST00000302271.6_Missense_Mutation_p.I211V|HNRNPR_ENST00000606561.1_Missense_Mutation_p.I72V|HNRNPR_ENST00000374612.1_Missense_Mutation_p.I211V|HNRNPR_ENST00000427764.2_Missense_Mutation_p.I173V|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374616.3_Missense_Mutation_p.I211V	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	211	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.I211V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGAAGGTGATAAATGCATAC	0.443000													73	81					0	0	0.139131	0	0
HSPB7	27129	broad.mit.edu	37	1	16342122	16342122	+	Missense_Mutation	SNP	G	G	C	rs114208608	by1000genomes	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:16342122G>C	ENST00000311890.9	-	3	1292	c.466C>G	c.(466-468)Cat>Gat	p.H156D	HSPB7_ENST00000487046.1_Missense_Mutation_p.H161D|HSPB7_ENST00000375718.4_Missense_Mutation_p.H231D|HSPB7_ENST00000411503.1_Missense_Mutation_p.H151D|HSPB7_ENST00000406363.2_Missense_Mutation_p.H160D	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	156					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	p.H156D(1)		breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTCTGTATGCGGGTGACGC	0.657000													11	64					0	0	0.105934	0	0
TNR	7143	broad.mit.edu	37	1	175334239	175334239	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:175334239T>A	ENST00000367674.1	-	12	3202	c.2494A>T	c.(2494-2496)Atg>Ttg	p.M832L	TNR_ENST00000263525.2_Missense_Mutation_p.M832L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	832	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.M832L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGCAGGCCCATCAGGACAGCA	0.562000													67	36					0	0	0.139131	0	0
INADL	10207	broad.mit.edu	37	1	62550300	62550300	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:62550300G>C	ENST00000371158.2	+	33	4471	c.4357G>C	c.(4357-4359)Gga>Cga	p.G1453R	INADL_ENST00000316485.6_Missense_Mutation_p.G1453R|INADL_ENST00000545929.1_Missense_Mutation_p.G126R|INADL_ENST00000543708.1_Missense_Mutation_p.G237R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1453	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.G1453R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGCATTGTGGGAGGAAAAGA	0.463000													58	81					0	0	0.139131	0	0
TUSC3	7991	broad.mit.edu	37	8	15480671	15480671	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:15480671G>T	ENST00000382020.4	+	2	429	c.221G>T	c.(220-222)cGa>cTa	p.R74L	TUSC3_ENST00000509380.1_Missense_Mutation_p.R74L|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000503731.1_Missense_Mutation_p.R74L|TUSC3_ENST00000506802.1_Missense_Mutation_p.R74L	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	74					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R74L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATAAATTCCGAAAATTTATA	0.398000													37	50					1.52319e-26	2.09125e-26	0.104719	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119013842	119013842	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:119013842G>A	ENST00000264245.4	+	1	623	c.91G>A	c.(91-93)Gga>Aga	p.G31R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	31	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.G31R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAAAGCTCGGGACAGGATGG	0.542000													35	90					0	0	0.193644	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189694	58189694	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:58189694C>T	ENST00000318203.5	+	5	1420	c.723C>T	c.(721-723)taC>taT	p.Y241Y		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	241					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y241Y(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAACCCATACAACTCAAAAA	0.448000													40	9					0	0	0.111260	0	0
TTN	7273	broad.mit.edu	37	2	179640522	179640522	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179640522C>A	ENST00000589042.1	-	28	6293	c.6069G>T	c.(6067-6069)aaG>aaT	p.K2023N	TTN_ENST00000460472.2_Missense_Mutation_p.K1977N|TTN_ENST00000591111.1_Missense_Mutation_p.K2023N|TTN_ENST00000360870.5_Missense_Mutation_p.K2023N|TTN_ENST00000359218.5_Missense_Mutation_p.K1977N|TTN_ENST00000342992.6_Missense_Mutation_p.K2023N|TTN_ENST00000342175.6_Missense_Mutation_p.K1977N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1785							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K2023N(3)|p.K1977N(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATTCATCCTTCTTTCGAG	0.463000													83	111					2.05912e-35	2.99358e-35	0.139131	1	0
PLAG1	5324	broad.mit.edu	37	8	57080660	57080660	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:57080660T>C	ENST00000316981.3	-	4	648	c.169A>G	c.(169-171)Aca>Gca	p.T57A	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.T57A	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	57	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T57A(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTCTCTCCTGTGTGAGAGTAG	0.398000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								33	24					0	0	0.203993	0	0
FAM133A	286499	broad.mit.edu	37	X	92965007	92965007	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:92965007G>A	ENST00000538690.1	+	5	1150	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	FAM133A_ENST00000332647.4_Missense_Mutation_p.E197K|FAM133A_ENST00000355813.5_Missense_Mutation_p.E197K|FAM133A_ENST00000322139.4_Missense_Mutation_p.E197K	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	197	Lys-rich.|Ser-rich.							p.E197K(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GTCCTCATCTGAATCAGATTA	0.363000													23	1					0	0	0.076483	0	0
CCNT2	905	broad.mit.edu	37	2	135677405	135677405	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:135677405A>G	ENST00000264157.5	+	2	214	c.184A>G	c.(184-186)Att>Gtt	p.I62V	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.I62V	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	62					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	p.I62V(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AAACACTGCGATTGTTTATAT	0.348000													42	64					0	0	0.139131	0	0
BFSP2	8419	broad.mit.edu	37	3	133191318	133191318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:133191318C>T	ENST00000302334.2	+	6	1242	c.1153C>T	c.(1153-1155)Caa>Taa	p.Q385*	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	385	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	p.Q385*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGAGCAGCAGCAACAGGAGCG	0.672000													16	32					0	0	0.204396	0	0
DUOX1	53905	broad.mit.edu	37	15	45454558	45454558	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:45454558C>G	ENST00000321429.4	+	32	4638	c.4231C>G	c.(4231-4233)Caa>Gaa	p.Q1411E	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1411E|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q1057E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1411					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.Q1411E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGTCAGCTGCCAAGTGTTCTG	0.537000													35	15					0	0	0.235728	0	0
SEC31B	25956	broad.mit.edu	37	10	102255201	102255201	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:102255201C>A	ENST00000370345.3	-	19	2510	c.2413G>T	c.(2413-2415)Gct>Tct	p.A805S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	805				A -> V (in Ref. 2; CAB45735).	protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.A805S(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGGAGGGTAGCTCCCACAACA	0.478000													16	7					1.01871e-10	1.17319e-10	0.204396	1	0
SCO1	6341	broad.mit.edu	37	17	10600752	10600752	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:10600752G>C	ENST00000255390.5	-	1	133	c.73C>G	c.(73-75)Cgc>Ggc	p.R25G	SCO1_ENST00000577427.1_Missense_Mutation_p.R25G	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	25					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	p.R25G(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCGAGTCCGCGAGGCAAGAAG	0.667000													3	3					0	0	0.115264	0	0
FLG2	388698	broad.mit.edu	37	1	152326311	152326311	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:152326311C>T	ENST00000388718.5	-	3	4023	c.3951G>A	c.(3949-3951)caG>caA	p.Q1317Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1317							calcium ion binding|structural molecule activity	p.Q1317Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATCTCCTCTCTGTCCATGAG	0.473000													158	216					0	0	0.139131	0	0
NEBL	10529	broad.mit.edu	37	10	21074756	21074756	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:21074756C>A	ENST00000377122.4	-	28	3361	c.2965G>T	c.(2965-2967)Gat>Tat	p.D989Y	NEBL_ENST00000377159.4_Missense_Mutation_p.D211Y|NEBL_ENST00000417816.2_Missense_Mutation_p.D245Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	989	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.D989Y(1)|p.D245Y(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCCAGCCATCGTCAATAGGC	0.493000													25	43					4.22769e-11	4.92098e-11	0.116897	1	0
OR2M3	127062	broad.mit.edu	37	1	248367211	248367211	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:248367211T>G	ENST00000456743.1	+	1	880	c.842T>G	c.(841-843)cTc>cGc	p.L281R		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L281R(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACACCATCCTCACTCCCATG	0.493000													80	81					0	0	0.139131	0	0
NETO1	81832	broad.mit.edu	37	18	70526213	70526213	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:70526213C>A	ENST00000327305.6	-	4	974	c.317G>T	c.(316-318)gGa>gTa	p.G106V	NETO1_ENST00000583169.1_Missense_Mutation_p.G106V|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.G105V|NETO1_ENST00000299430.2_Missense_Mutation_p.G105V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	106	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G105V(1)|p.G106V(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCCAAAAGGTCCATCTCGAAC	0.378000													24	25					7.01153e-11	8.10919e-11	0.125774	1	0
CDYL	9425	broad.mit.edu	37	6	4892563	4892563	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:4892563C>T	ENST00000328908.5	+	4	934	c.803C>T	c.(802-804)cCc>cTc	p.P268L	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_Missense_Mutation_p.P82L|CDYL_ENST00000397588.3_Missense_Mutation_p.P214L|CDYL_ENST00000343762.5_Missense_Mutation_p.P82L			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	268					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.P268L(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CCTCAGGTGCCCGGCCCTGTG	0.642000													29	43					0	0	0.173368	0	0
SMG1	23049	broad.mit.edu	37	16	18864947	18864947	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:18864947T>G	ENST00000446231.2	-	31	5138	c.4726A>C	c.(4726-4728)Acg>Ccg	p.T1576P	SMG1_ENST00000389467.3_Missense_Mutation_p.T1576P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1576	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T1572P(1)|p.T1576P(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCTTCCATCGTATTAACAGAT	0.358000													6	9					0	0	0.029380	0	0
NFAT5	10725	broad.mit.edu	37	16	69726378	69726378	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:69726378G>A	ENST00000349945.1	+	14	3920	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	NFAT5_ENST00000354436.2_Missense_Mutation_p.E866K|NFAT5_ENST00000393742.2_Missense_Mutation_p.E790K|NFAT5_ENST00000432919.1_Missense_Mutation_p.E884K|NFAT5_ENST00000566899.1_Missense_Mutation_p.E790K|NFAT5_ENST00000567239.1_Missense_Mutation_p.E883K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	866					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E790K(1)|p.E884K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGAAGAGCTGAAAGTGTTCA	0.448000													33	98					0	0	0.173368	0	0
ZNF71	58491	broad.mit.edu	37	19	57133862	57133862	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:57133862G>T	ENST00000328070.6	+	3	1441	c.1207G>T	c.(1207-1209)Gtg>Ttg	p.V403L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V403L(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACCAGATCGTGCACACCGG	0.642000													26	6					2.65835e-16	3.30316e-16	0.125774	1	0
EFTUD2	9343	broad.mit.edu	37	17	42971873	42971873	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:42971873T>C	ENST00000426333.2	-	2	314	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	EFTUD2_ENST00000592576.1_Missense_Mutation_p.Y6C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.Y6C|EFTUD2_ENST00000402521.3_Intron	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	6						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	p.Y6C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AAACTCATCATATAAGTCGGT	0.388000													85	118					0	0	0.139131	0	0
SUPT5H	6829	broad.mit.edu	37	19	39955488	39955488	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:39955488C>G	ENST00000599117.1	+	12	1042	c.675C>G	c.(673-675)atC>atG	p.I225M	SUPT5H_ENST00000359191.6_Missense_Mutation_p.I221M|SUPT5H_ENST00000598725.1_Missense_Mutation_p.I225M|SUPT5H_ENST00000432763.2_Missense_Mutation_p.I225M|SUPT5H_ENST00000402194.2_Missense_Mutation_p.I221M			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	225	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.I225M(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGCTACATCTACGTGGAGG	0.582000													30	52					0	0	0.173368	0	0
PRND	23627	broad.mit.edu	37	20	4705650	4705650	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:4705650G>A	ENST00000305817.2	+	2	524	c.453G>A	c.(451-453)agG>agA	p.R151R		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	151	Globular.				protein homooligomerization	anchored to membrane|plasma membrane		p.R151R(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GGTTGGAGAGGGGCGCAGGAC	0.592000													28	55					0	0	0.125774	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800564	185800564	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:185800564C>A	ENST00000302277.6	+	4	1035	c.441C>A	c.(439-441)aaC>aaA	p.N147K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	147						intracellular	zinc ion binding	p.N147K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAGAGAAAACTGTAATGAAA	0.363000													23	43					4.26978e-12	5.04019e-12	0.083992	1	0
HOXC10	3226	broad.mit.edu	37	12	54379159	54379159	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:54379159T>C	ENST00000303460.4	+	1	190	c.116T>C	c.(115-117)tTc>tCc	p.F39S	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	39					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F39S(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GGGAGTGACTTCAATTGCGGG	0.642000													56	69					0	0	0.139131	0	0
IGSF6	10261	broad.mit.edu	37	16	21654460	21654460	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:21654460G>T	ENST00000268389.4	-	5	662	c.601C>A	c.(601-603)Cgt>Agt	p.R201S	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	201					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.R201S(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGAAAAATACGCCGAGCACTC	0.323000													20	40					1.96292e-10	2.23922e-10	0.219247	1	0
GUCY2C	2984	broad.mit.edu	37	12	14798242	14798242	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:14798242A>G	ENST00000261170.3	-	16	1854	c.1718T>C	c.(1717-1719)tTa>tCa	p.L573S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	573	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.L573S(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTGTCATTTAAAACTTCCTG	0.343000													25	77					0	0	0.083992	0	0
GAD1	2571	broad.mit.edu	37	2	171716263	171716263	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:171716263C>A	ENST00000358196.3	+	17	2206	c.1656C>A	c.(1654-1656)acC>acA	p.T552T		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	552					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.T552T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGGTACGACCATGGTTGGCT	0.488000													14	28					4.7546e-09	5.31771e-09	0.146539	1	0
IARS	3376	broad.mit.edu	37	9	95003138	95003138	+	Splice_Site	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:95003138C>T	ENST00000375643.3	-	30	3549	c.3283_splice	c.e30+1	p.G1095_splice	IARS_ENST00000375627.1_Splice_Site_p.G148_splice|IARS_ENST00000375629.3_Splice_Site_p.G148_splice|IARS_ENST00000447699.2_Splice_Site_p.G985_splice|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000443024.2_Splice_Site_p.G1095_splice	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1095					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.G1095S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTACTCTTACCTTGTTCACTG	0.358000													9	15					0	0	0.047766	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794977	140794977	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140794977G>T	ENST00000398610.2	+	1	2235	c.2235G>T	c.(2233-2235)gtG>gtT	p.V745V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.V745V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACTTTGTGGGCGTGGACG	0.632000													49	52					1.51926e-22	2.01948e-22	0.139131	1	0
SLC1A6	6511	broad.mit.edu	37	19	15083604	15083604	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:15083604C>T	ENST00000598504.1	-	4	1478	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SLC1A6_ENST00000221742.3_Missense_Mutation_p.R40H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R40H|SLC1A6_ENST00000430939.2_Silent_p.A44A|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R40H	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	40					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R40H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGTCTGCAGGCGCAGGCGCGT	0.682000													6	29					0	0	0.217242	0	0
CDH2	1000	broad.mit.edu	37	18	25532316	25532316	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:25532316T>A	ENST00000269141.3	-	16	2945	c.2522A>T	c.(2521-2523)aAa>aTa	p.K841I	CDH2_ENST00000399380.3_Missense_Mutation_p.K810I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	841					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.K841I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCAGCCGCTTTAAGGCCCTG	0.453000											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	42					0	0	0.204396	0	0
CDH11	1009	broad.mit.edu	37	16	65032652	65032652	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:65032652G>T	ENST00000394156.3	-	4	789	c.336C>A	c.(334-336)gcC>gcA	p.A112A	CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000268603.4_Silent_p.A112A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A112A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACGTCTTGGTGGCATGAATGT	0.498000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			35	54					2.38352e-08	2.64133e-08	0.203993	1	0
DNAJC8	22826	broad.mit.edu	37	1	28537106	28537106	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:28537106C>G	ENST00000263697.4	-	4	306	c.280G>C	c.(280-282)Gac>Cac	p.D94H	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	94	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	p.D94H(1)		kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCTCTGTCAGCATCATCT	0.393000													3	135					0	0	0.115264	0	0
CTAGE15	441294	broad.mit.edu	37	7	143268923	143268923	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:143268923G>T	ENST00000420911.2	+	1	30	c.13G>T	c.(13-15)Ggt>Tgt	p.G5C		NM_001008747.1	NP_001008747.1			CTAGE family, member 15																		GGAGGAGCCCGGTGCTACCCC	0.597000													14	41					1.50039e-11	1.75584e-11	0.234183	1	0
TNXB	7148	broad.mit.edu	37	6	32029430	32029430	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:32029430C>A	ENST00000375244.3	-	21	7437	c.7236G>T	c.(7234-7236)ccG>ccT	p.P2412P	TNXB_ENST00000375247.2_Silent_p.P2412P			P22105	TENX_HUMAN	tenascin XB	2472	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.P2412P(1)|p.P2499P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCCAGGAGCGGCTCCTCAG	0.647000													22	42					3.73148e-12	4.40956e-12	0.125774	1	0
HRNR	388697	broad.mit.edu	37	1	152187577	152187577	+	Silent	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:152187577C>G	ENST00000368801.2	-	3	6603	c.6528G>C	c.(6526-6528)ggG>ggC	p.G2176G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2176					keratinization		calcium ion binding|protein binding	p.G2176G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGATCCAGACCCTTGTCGGC	0.632000													16	267					0	0	0.183431	0	0
OR5K3	403277	broad.mit.edu	37	3	98109951	98109951	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:98109951G>T	ENST00000383695.1	+	1	442	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A148S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GACTGCAGGAGCCTACCTAGC	0.468000													62	98					1.72039e-30	2.43591e-30	0.139131	1	0
KLHL13	90293	broad.mit.edu	37	X	117043468	117043468	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:117043468C>T	ENST00000371876.1	-	4	3430	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	KLHL13_ENST00000545703.1_Missense_Mutation_p.G346R|KLHL13_ENST00000469946.1_Missense_Mutation_p.G337R|KLHL13_ENST00000371878.1_Missense_Mutation_p.G337R|KLHL13_ENST00000540167.1_Missense_Mutation_p.G372R|KLHL13_ENST00000539496.1_Missense_Mutation_p.G391R|KLHL13_ENST00000371882.1_Missense_Mutation_p.G337R|KLHL13_ENST00000541812.1_Missense_Mutation_p.G372R|KLHL13_ENST00000262820.3_Missense_Mutation_p.G388R			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	388					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G388R(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAAAATTTCCAATGACGGCG	0.438000													45	52					0	0	0.139131	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134002	91134002	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:91134002G>T	ENST00000373094.1	+	2	3608	c.2763G>T	c.(2761-2763)tgG>tgT	p.W921C	PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.W921C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	921					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.W921C(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTACAATTGGGTAACTACAC	0.453000													70	78					2.64105e-45	3.99469e-45	0.139131	1	0
LRIT3	345193	broad.mit.edu	37	4	110791278	110791278	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:110791278G>A	ENST00000327908.3	+	4	1588	c.824G>A	c.(823-825)gGa>gAa	p.G275E	LRIT3_ENST00000594814.1_Missense_Mutation_p.G458E|LRIT3_ENST00000379920.3_Missense_Mutation_p.G413E|LRIT3_ENST00000409621.2_Missense_Mutation_p.G275E			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	413	Ig-like.					integral to membrane		p.G413E(1)|p.G275E(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCAAAGAATGGAAGTAAGCTT	0.463000													32	41					0	0	0.183431	0	0
DEPDC5	9681	broad.mit.edu	37	22	32270283	32270283	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:32270283A>G	ENST00000400246.1	+	36	3730	c.3588A>G	c.(3586-3588)gaA>gaG	p.E1196E	DEPDC5_ENST00000400248.1_Silent_p.E1165E|DEPDC5_ENST00000382105.2_Silent_p.E1118E|DEPDC5_ENST00000382112.3_Silent_p.E1187E|DEPDC5_ENST00000266091.3_Silent_p.E1174E|DEPDC5_ENST00000382111.2_Silent_p.E1196E|DEPDC5_ENST00000535622.1_Silent_p.E1096E|DEPDC5_ENST00000400249.2_Silent_p.E1165E|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000539165.1_Silent_p.E13E			O75140	DEPD5_HUMAN	DEP domain containing 5	1165	DEP.				intracellular signal transduction			p.E1096E(1)|p.E1165E(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCTCTCTGAACAGAAGGGCC	0.567000													2	14					0	0	0.184627	0	0
MFSD10	10227	broad.mit.edu	37	4	2935498	2935498	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:2935498C>G	ENST00000329687.4	-	1	687	c.153G>C	c.(151-153)gaG>gaC	p.E51D	MFSD10_ENST00000508221.1_Missense_Mutation_p.E51D|MFSD10_ENST00000507555.1_Missense_Mutation_p.E51D|MFSD10_ENST00000355443.4_Missense_Mutation_p.E51D|MFSD10_ENST00000514800.1_Missense_Mutation_p.E51D	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	51					apoptosis	integral to membrane	tetracycline transporter activity	p.E51D(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCGTGGCTCTCCAACAGCC	0.692000													6	4					0	0	0.038147	0	0
ZNF202	7753	broad.mit.edu	37	11	123598298	123598298	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:123598298G>A	ENST00000336139.4	-	7	1200	c.838C>T	c.(838-840)Cca>Tca	p.P280S	ZNF202_ENST00000529691.1_Missense_Mutation_p.P280S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P280S			O95125	ZN202_HUMAN	zinc finger protein 202	280	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P280S(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGGGGATTGGAAATGCTGCT	0.483000													14	65					0	0	0.119110	0	0
SUV420H1	51111	broad.mit.edu	37	11	67938611	67938611	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:67938611G>A	ENST00000304363.4	-	9	1201	c.848C>T	c.(847-849)tCa>tTa	p.S283L	SUV420H1_ENST00000402789.1_Missense_Mutation_p.S283L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.S260L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.S283L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.S283L	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	283	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.S283L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCGACCAGTTGACACAAACTA	0.328000													38	36					0	0	0.098360	0	0
SHD	56961	broad.mit.edu	37	19	4288274	4288274	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:4288274G>C	ENST00000543264.2	+	5	2214	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	251	SH2.							p.E251Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGATGCAGAGAGCCTCCT	0.572000													12	63					0	0	0.105934	0	0
ASPM	259266	broad.mit.edu	37	1	197073145	197073145	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:197073145T>G	ENST00000367409.4	-	18	5492	c.5236A>C	c.(5236-5238)Aag>Cag	p.K1746Q	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1746	IQ 6.				mitosis	cytoplasm|nucleus	calmodulin binding	p.K1746Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCATCTGCTTTCGGACAAGG	0.368000													126	81					0	0	0.139131	0	0
VPS8	23355	broad.mit.edu	37	3	184714270	184714270	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:184714270G>A	ENST00000437079.3	+	44	3988	c.3817G>A	c.(3817-3819)Gat>Aat	p.D1273N	VPS8_ENST00000436792.2_Missense_Mutation_p.D1271N|VPS8_ENST00000287546.4_Missense_Mutation_p.D1273N|VPS8_ENST00000446204.2_Missense_Mutation_p.D1181N	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1273							zinc ion binding	p.D1273N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGAAATGGCTGATGAAATAAT	0.418000													7	128					0	0	0.038147	0	0
MYBL1	4603	broad.mit.edu	37	8	67488548	67488548	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:67488548G>C	ENST00000522677.3	-	10	1574	c.1164C>G	c.(1162-1164)atC>atG	p.I388M	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.I388M	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	388	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I388M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GGGTGGATTTGATAGGAGAAG	0.368000													8	222					0	0	0.047766	0	0
CENPF	1063	broad.mit.edu	37	1	214826243	214826243	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214826243G>A	ENST00000366955.3	+	16	8401	c.8233G>A	c.(8233-8235)Gag>Aag	p.E2745K	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2841	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E2745K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAGAAGCTGGAGATAGACCT	0.338000													20	130					0	0	0.069288	0	0
ALMS1	7840	broad.mit.edu	37	2	73679045	73679045	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:73679045G>T	ENST00000264448.6	+	8	5499	c.5388G>T	c.(5386-5388)ggG>ggT	p.G1796G	ALMS1_ENST00000409009.1_Silent_p.G1754G|ALMS1_ENST00000377715.1_Silent_p.G1796G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1796	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.G1796G(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAGACTGGGGTATCAACAG	0.438000													92	120					1.80868e-48	2.74333e-48	0.139131	1	0
MCM5	4174	broad.mit.edu	37	22	35802719	35802719	+	Splice_Site	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:35802719G>A	ENST00000216122.4	+	5	750		c.e5+1		CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Splice_Site	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGCAACACGTGAGTCTGTG	0.587000													6	52					0	0	0.029380	0	0
CENPF	1063	broad.mit.edu	37	1	214818774	214818774	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214818774C>T	ENST00000366955.3	+	13	6029	c.5861C>T	c.(5860-5862)tCa>tTa	p.S1954L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2050					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.S1954L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGAACTCTCAGTGGTCACA	0.393000													23	142					0	0	0.099896	0	0
ARID2	196528	broad.mit.edu	37	12	46211516	46211516	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:46211516T>A	ENST00000334344.6	+	5	654	c.482T>A	c.(481-483)tTg>tAg	p.L161*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.L12*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	161					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L161*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TATAATAAATTGGTGCTTTCA	0.353000			"""N, S, F"""		hepatocellular carcinoma								44	47					0	0	0.139131	0	0
ZNF112	7665	broad.mit.edu	37	19	44834051	44834051	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:44834051C>A	ENST00000354340.4	-	4	310	c.259G>T	c.(259-261)Gta>Tta	p.V87L	CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.V92L|ZNF112_ENST00000337401.4_Missense_Mutation_p.V93L|ZNF112_ENST00000536500.1_Missense_Mutation_p.V110L	NM_013380.3	NP_037512.3			zinc finger protein 112									p.V87L(1)|p.V93L(1)									CTTACTGTTACTTCCTGAATA	0.403000													16	7					5.3912e-06	5.74568e-06	0.175082	1	0
PFKL	5211	broad.mit.edu	37	21	45738419	45738419	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:45738419G>A	ENST00000403390.1	+	11	1144	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	PFKL_ENST00000349048.4_Missense_Mutation_p.V335M			P17858	K6PL_HUMAN	phosphofructokinase, liver	335					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.V382M(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCCGGCCTGCGTGGTCACCCT	0.672000													9	6					0	0	0.119110	0	0
MMP25	64386	broad.mit.edu	37	16	3108841	3108841	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:3108841C>G	ENST00000336577.4	+	10	1668	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	477	Hemopexin-like 4.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.F477L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						ACACCTACTTCTTCAAGGGCG	0.697000													5	5					0	0	0.184627	0	0
ERC1	23085	broad.mit.edu	37	12	1137189	1137189	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:1137189G>T	ENST00000397203.2	+	2	526	c.120G>T	c.(118-120)ggG>ggT	p.G40G	ERC1_ENST00000543086.3_Silent_p.G40G|ERC1_ENST00000589028.1_Silent_p.G40G|ERC1_ENST00000355446.5_Silent_p.G40G|ERC1_ENST00000546231.2_Silent_p.G40G|ERC1_ENST00000360905.4_Silent_p.G40G			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	40					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	p.G40G(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTACGGGAGGGAGTTCGGGAA	0.557000													18	84					2.48551e-13	2.97275e-13	0.160694	1	0
NCOA3	8202	broad.mit.edu	37	20	46276056	46276056	+	Silent	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:46276056A>T	ENST00000372004.3	+	18	3708	c.3492A>T	c.(3490-3492)acA>acT	p.T1164T	NCOA3_ENST00000371997.3_Silent_p.T1159T|NCOA3_ENST00000341724.6_Silent_p.T1094T|NCOA3_ENST00000371998.3_Silent_p.T1164T	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1164	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.T1164T(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GACCCCGGACAAACACCCCCA	0.488000													39	45					0	0	0.098360	0	0
WAC	51322	broad.mit.edu	37	10	28905206	28905206	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:28905206C>G	ENST00000375664.3	+	12	2135	c.1526C>G	c.(1525-1527)tCa>tGa	p.S509*	WAC_ENST00000375646.1_Nonsense_Mutation_p.S402*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S451*|WAC_ENST00000354911.4_Nonsense_Mutation_p.S554*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	554					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.S554*(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCCACGTGTTCATTAACGCCT	0.438000													59	71					0	0	0.139131	0	0
ALDH9A1	223	broad.mit.edu	37	1	165667628	165667628	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:165667628G>A	ENST00000354775.4	-	1	472	c.168C>T	c.(166-168)ttC>ttT	p.F56F	ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	32					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	p.F32F(1)|p.F56F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TTGCTGGCTCGAAAGCTTTCT	0.697000													14	9					0	0	0.189662	0	0
ALK	238	broad.mit.edu	37	2	30143288	30143288	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:30143288G>T	ENST00000389048.3	-	1	1144	c.238C>A	c.(238-240)Ctg>Atg	p.L80M	ALK_ENST00000431873.1_Missense_Mutation_p.L80M	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	80					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L80M(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCAGCCTTCAGCTCCGAGGAG	0.706000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	10					0.00307968	0.00314631	0.038147	1	0
EPHA2	1969	broad.mit.edu	37	1	16462249	16462249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:16462249C>A	ENST00000358432.5	-	6	1483	c.1329G>T	c.(1327-1329)agG>agT	p.R443S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	443	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.R443S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGCCCTCCAGCCTCACCTTGG	0.652000													26	29					1.26454e-06	1.36646e-06	0.108266	1	0
CENPF	1063	broad.mit.edu	37	1	214814818	214814818	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:214814818C>T	ENST00000366955.3	+	12	3305	c.3137C>T	c.(3136-3138)gCa>gTa	p.A1046V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1046					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.A1046V(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TACAAAGCAGCACAGGAAAAG	0.333000													17	79					0	0	0.160694	0	0
OR2C1	4993	broad.mit.edu	37	16	3406108	3406108	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:3406108T>A	ENST00000304936.2	+	1	220	c.168T>A	c.(166-168)caT>caA	p.H56Q		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H56Q(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCCGGCTCCATACACCCATGT	0.498000													112	161					0	0	0.139131	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216413	20216413	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:20216413A>G	ENST00000331723.1	+	1	827	c.827A>G	c.(826-828)tAc>tGc	p.Y276C		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y276C(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTGTTTTACACAGTGATT	0.428000													45	132					0	0	0.124865	0	0
WWP2	11060	broad.mit.edu	37	16	69833148	69833148	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:69833148G>T	ENST00000359154.2	+	4	391	c.290G>T	c.(289-291)gGc>gTc	p.G97V	WWP2_ENST00000569174.1_Missense_Mutation_p.G97V|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.G97V|WWP2_ENST00000448661.1_Missense_Mutation_p.G97V	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	97	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.G97V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAACTGCTAGGCACCGCATCT	0.468000											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	55					8.78508e-14	1.05538e-13	0.139131	1	0
CST9	128822	broad.mit.edu	37	20	23584171	23584171	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:23584171G>A	ENST00000376971.3	-	2	467	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	152						extracellular region	cysteine-type endopeptidase inhibitor activity	p.A152A(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CCCTCGGAATGGCTTTGTCAG	0.582000													24	30					0	0	0.091800	0	0
ENTHD1	150350	broad.mit.edu	37	22	40231877	40231877	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:40231877G>T	ENST00000325157.6	-	4	929	c.679C>A	c.(679-681)Cca>Aca	p.P227T		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	227								p.P227T(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ATCTTGAGTGGAAGTGTTTCC	0.378000													105	140					4.58075e-42	6.88062e-42	0.139131	1	0
PDE6G	5148	broad.mit.edu	37	17	79620334	79620334	+	Missense_Mutation	SNP	A	A	G	rs150256730		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:79620334A>G	ENST00000573076.1	-	2	627	c.152T>C	c.(151-153)aTg>aCg	p.M51T	PDE6G_ENST00000571224.1_Start_Codon_SNP_p.M1T|PDE6G_ENST00000571004.1_Start_Codon_SNP_p.M1T|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000331056.5_Start_Codon_SNP_p.M1T			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	1					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.M1T(1)		lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTCCAGGTTCATGGTGAGGCT	0.667000													55	3					0	0	0.139131	0	0
SH2B1	25970	broad.mit.edu	37	16	28883956	28883956	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:28883956C>T	ENST00000337120.5	+	7	5118	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	SH2B1_ENST00000359285.5_Silent_p.I609I|SH2B1_ENST00000395532.4_Silent_p.I609I|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Silent_p.I609I|SH2B1_ENST00000545570.1_Silent_p.I299I|SH2B1_ENST00000538342.1_Silent_p.I273I	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	609	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.I609I(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCACCCCATCCCTTTGGAGT	0.602000													52	54					0	0	0.139131	0	0
UBXN2B	137886	broad.mit.edu	37	8	59358602	59358602	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:59358602A>T	ENST00000399598.2	+	7	930	c.808A>T	c.(808-810)Ata>Tta	p.I270L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	270	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		p.I270L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GAGTCGTTTGATACAAAGATT	0.358000													23	32					0	0	0.091800	0	0
TEX15	56154	broad.mit.edu	37	8	30703090	30703090	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:30703090T>A	ENST00000256246.2	-	1	3518	c.3444A>T	c.(3442-3444)tcA>tcT	p.S1148S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1148	Ser-rich.							p.S1148S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATAATAAACTGACTGACTTG	0.413000													37	49					0	0	0.246493	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41609955	41609955	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr22:41609955G>C	ENST00000216237.5	+	3	479	c.321G>C	c.(319-321)aaG>aaC	p.K107N	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	107					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	p.K107N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAGACCAAGAGGTTCTGCA	0.512000													57	82					0	0	0.139131	0	0
TRAV25	28658	broad.mit.edu	37	14	22580304	22580304	+	RNA	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:22580304T>A	ENST00000390454.2	+	0	5																											ACCGCAACTATTTCTATTGAT	0.423000													18	22					0	0	0.204396	0	0
MYT1	4661	broad.mit.edu	37	20	62859386	62859386	+	Nonstop_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:62859386T>A	ENST00000360149.4	+	16	1992	c.1774T>A	c.(1774-1776)Taa>Aaa	p.*592K	MYT1_ENST00000328439.1_Intron|MYT1_ENST00000536311.1_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	0					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GTGTGTTTTATAATGTAAAAA	0.428000													20	31					0	0	0.204396	0	0
PNRC1	10957	broad.mit.edu	37	6	89790770	89790770	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:89790770C>T	ENST00000336032.3	+	1	274	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.P53S(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		GGCACTGCCCCCGACCCTCTT	0.692000										Multiple Myeloma(7;0.094)			33	44					0	0	0.225048	0	0
BRD4	23476	broad.mit.edu	37	19	15350203	15350203	+	Splice_Site	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:15350203C>A	ENST00000263377.2	-	17	3797	c.3576_splice	c.e17+1	p.K1192_splice		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1192					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.?(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCATCCCAACCTTTTTGGGCG	0.632000			T	C15orf55	lethal midline carcinoma of young people								40	81					1.51926e-22	2.01948e-22	0.139131	1	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36352517	36352517	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:36352517C>A	ENST00000312412.4	-	11	1269	c.1270G>T	c.(1270-1272)Ggc>Tgc	p.G424C	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.G269C|TBC1D3_ENST00000537432.1_5'UTR														p.G424C(2)		kidney(1)|lung(3)	4						GATGGATGGCCCACACTGACC	0.418000													6	20					2.0095e-06	2.15431e-06	0.029380	1	0
FBN2	2201	broad.mit.edu	37	5	127626463	127626463	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:127626463A>T	ENST00000508053.1	-	56	7380	c.6406T>A	c.(6406-6408)Tgg>Agg	p.W2136R	FBN2_ENST00000262464.4_Missense_Mutation_p.W2136R			P35556	FBN2_HUMAN	fibrillin 2	2136	TB 8.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.W2136R(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGTCCCCCCAGCCCTCTCCT	0.458000													36	61					0	0	0.203993	0	0
DNM1	1759	broad.mit.edu	37	9	131009749	131009749	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr9:131009749A>T	ENST00000341179.7	+	17	1969	c.1877A>T	c.(1876-1878)tAc>tTc	p.Y626F	DNM1_ENST00000486160.1_Missense_Mutation_p.Y626F|DNM1_ENST00000393594.3_Missense_Mutation_p.Y626F|DNM1_ENST00000372923.3_Missense_Mutation_p.Y626F|DNM1_ENST00000475805.1_Missense_Mutation_p.Y626F	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	626					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.Y626F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGGCGTGTACCCTGAGCGT	0.597000													10	21					0	0	0.069234	0	0
FAT3	120114	broad.mit.edu	37	11	92531208	92531208	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:92531208C>A	ENST00000298047.6	+	9	5046	c.5029C>A	c.(5029-5031)Caa>Aaa	p.Q1677K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q1677K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1527K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1677	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Q1677K(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAAAGACTACCAAGCAGAAGT	0.428000										TCGA Ovarian(4;0.039)			28	59					1.16021e-09	1.31249e-09	0.125774	1	0
CABS1	85438	broad.mit.edu	37	4	71201045	71201045	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:71201045A>G	ENST00000273936.4	+	1	348	c.289A>G	c.(289-291)Acc>Gcc	p.T97A		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	97						flagellum	calcium ion binding	p.T97A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAAGAAATTACCTCTCTGAC	0.373000													32	37					0	0	0.183431	0	0
COL2A1	1280	broad.mit.edu	37	12	48391491	48391491	+	Splice_Site	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:48391491C>A	ENST00000380518.3	-	7	594		c.e7-1		COL2A1_ENST00000337299.6_Splice_Site	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGGGCACCCTTGGCATAAA	0.587000													81	92					1.13027e-35	1.64761e-35	0.139131	1	0
PHF6	84295	broad.mit.edu	37	X	133559234	133559234	+	Silent	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:133559234A>G	ENST00000332070.3	+	10	1174	c.972A>G	c.(970-972)ctA>ctG	p.L324L	PHF6_ENST00000416404.2_Silent_p.L290L|PHF6_ENST00000370803.3_Silent_p.L324L|PHF6_ENST00000394292.1_Silent_p.L325L	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	p.L324L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ATTGTAGACTATACTGTAAAA	0.368000			"""F, N, Splice, Mis"""		ETP ALL								59	3					0	0	0.139131	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450738	85450738	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:85450738G>A	ENST00000393217.2	+	8	2228	c.2167G>A	c.(2167-2169)Gat>Aat	p.D723N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	723								p.D723N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCTGAACCTGATAGCATGAC	0.353000													75	153					0	0	0.139131	0	0
CDH10	1008	broad.mit.edu	37	5	24511577	24511577	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:24511577G>T	ENST00000264463.4	-	6	1368	c.861C>A	c.(859-861)gcC>gcA	p.A287A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	287	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A287A(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CACTTCCAATGGCTGTGCCAA	0.418000										HNSCC(23;0.051)			21	45					1.01871e-10	1.17319e-10	0.204396	1	0
OSBPL7	114881	broad.mit.edu	37	17	45891033	45891033	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:45891033G>C	ENST00000007414.3	-	15	1710	c.1519C>G	c.(1519-1521)Ctg>Gtg	p.L507V	OSBPL7_ENST00000392507.3_Missense_Mutation_p.L507V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	507					lipid transport		lipid binding	p.L507V(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCGCTGCAGAGTGTTGAGC	0.617000													9	30					0	0	0.119110	0	0
SEMA7A	8482	broad.mit.edu	37	15	74703902	74703902	+	Silent	SNP	G	G	A	rs145844323	byFrequency	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr15:74703902G>A	ENST00000261918.4	-	12	2120	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	SEMA7A_ENST00000542748.1_Silent_p.S359S|SEMA7A_ENST00000543145.2_Silent_p.S510S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	524					axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.S524S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CGTACCGTTCGGAGCTGTAGA	0.652000													31	39					0	0	0.203993	0	0
MYO16	23026	broad.mit.edu	37	13	109445881	109445881	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr13:109445881C>A	ENST00000356711.2	+	6	694	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	MYO16_ENST00000357550.2_Missense_Mutation_p.L190M|MYO16_ENST00000251041.5_Missense_Mutation_p.L190M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	190					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.L190M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTTGACCTCACTGCGCCAGAT	0.433000													134	112					1.88352e-63	2.94741e-63	0.139131	1	0
FAM198B	51313	broad.mit.edu	37	4	159076790	159076790	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:159076790C>T	ENST00000296530.8	-	3	1719	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Silent_p.K366K|FAM198B_ENST00000393807.5_Silent_p.K374K	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	366						Golgi membrane|integral to membrane		p.K366K(1)|p.K374K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AGAGTGCCATCTTGGACCACT	0.408000													27	39					0	0	0.134883	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512710	68512710	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:68512710C>T	ENST00000370981.1	-	4	907	c.271G>A	c.(271-273)Gac>Aac	p.D91N	DIRAS3_ENST00000395201.1_Missense_Mutation_p.D91N|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	91					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTTGCTGTCGGTGATGTGC	0.602000													4	205					0	0	0.150653	0	0
FASTKD2	22868	broad.mit.edu	37	2	207652826	207652826	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:207652826G>T	ENST00000236980.6	+	9	2108	c.1760G>T	c.(1759-1761)gGa>gTa	p.G587V	FASTKD2_ENST00000402774.3_Missense_Mutation_p.G587V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.G587V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	587					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.G587L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AGCCTTCTGGGAGGTGAAGGA	0.453000													14	21					4.36969e-10	4.96909e-10	0.105934	1	0
ANO3	63982	broad.mit.edu	37	11	26463463	26463463	+	Splice_Site	SNP	A	A	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:26463463A>C	ENST00000256737.3	+	2	898		c.e2-1		ANO3_ENST00000525139.1_Splice_Site|ANO3_ENST00000537978.1_Splice_Site|ANO3_ENST00000531646.1_Splice_Site	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3							chloride channel complex	chloride channel activity	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTGGATTTGCAGGTATGAATA	0.368000													62	82					0	0	0.139131	0	0
GRM8	2918	broad.mit.edu	37	7	126173425	126173425	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:126173425T>A	ENST00000339582.2	-	9	2819	c.2011A>T	c.(2011-2013)Aac>Tac	p.N671Y	GRM8_ENST00000358373.3_Missense_Mutation_p.N671Y|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.N671Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	671					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.N671Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGGATACGGTTTGTTTTGGTC	0.478000										HNSCC(24;0.065)			45	52					0	0	0.139131	0	0
BAGE2	85319	broad.mit.edu	37	21	11058268	11058268	+	RNA	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr21:11058268C>A	ENST00000470054.1	-	0	379									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCTGGGTACATTTCTCTTC	0.423000													6	100					0.000157383	0.000163402	0.038147	1	0
MYH6	4624	broad.mit.edu	37	14	23872970	23872970	+	Silent	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:23872970G>T	ENST00000405093.3	-	9	823	c.753C>A	c.(751-753)atC>atA	p.I251I	MYH6_ENST00000356287.3_Silent_p.I251I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	251	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I251>?(1)|p.H252Y(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCCAAAGTGGATCCTAATGA	0.582000													7	13					1.08611e-07	1.19626e-07	0.080935	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120300499	120300499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:120300499C>A	ENST00000397843.2	+	10	908	c.742C>A	c.(742-744)Cag>Aag	p.Q248K	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q145K|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q229K	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	248					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.Q248K(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACACATTCCTCAGCTGCAAGA	0.408000			T	MLL	AML								19	43					5.35356e-11	6.21814e-11	0.076483	1	0
USP7	7874	broad.mit.edu	37	16	8988689	8988689	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:8988689C>A	ENST00000344836.4	-	29	3261	c.3063G>T	c.(3061-3063)atG>atT	p.M1021I	USP7_ENST00000381886.4_Missense_Mutation_p.M1005I|USP7_ENST00000535863.1_Missense_Mutation_p.M922I	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1021					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.M1021I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGATTCGCTTCATCACTTCTC	0.592000													63	129					1.77791e-30	2.51408e-30	0.139131	1	0
PYHIN1	149628	broad.mit.edu	37	1	158906820	158906820	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:158906820A>T	ENST00000368140.1	+	2	365	c.120A>T	c.(118-120)aaA>aaT	p.K40N	PYHIN1_ENST00000392252.3_Missense_Mutation_p.K40N|PYHIN1_ENST00000368135.4_Missense_Mutation_p.K40N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K40N|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K40N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	40	DAPIN.				cell cycle	nuclear speck		p.K40N(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAAAAATGAAAGAAGAGTATG	0.328000													24	79					0	0	0.099896	0	0
PCLO	27445	broad.mit.edu	37	7	82544020	82544020	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:82544020C>A	ENST00000423517.2	-	7	13619	c.13282G>T	c.(13282-13284)Gcc>Tcc	p.A4428S	PCLO_ENST00000333891.8_Missense_Mutation_p.A4428S|PCLO_ENST00000437081.1_Missense_Mutation_p.A1148S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4359	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A4428S(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGACATGGCATGTTGGAAG	0.438000													10	13					1.5842e-08	1.76456e-08	0.105934	1	0
MMRN1	22915	broad.mit.edu	37	4	90874329	90874329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:90874329C>A	ENST00000394980.1	+	9	3766	c.3447C>A	c.(3445-3447)taC>taA	p.Y1149*	MMRN1_ENST00000394981.1_Nonsense_Mutation_p.Y452*|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Y891*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Y1149*			Q13201	MMRN1_HUMAN	multimerin 1	1149	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.Y1149*(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTTCAAGTACACCATCGAGT	0.338000													14	50					2.31682e-05	2.43334e-05	0.132662	1	0
PRR25	388199	broad.mit.edu	37	16	855729	855729	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:855729C>G	ENST00000301698.1	+	1	287	c.287C>G	c.(286-288)aCa>aGa	p.T96R		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	96								p.T96R(1)		large_intestine(1)|lung(1)|skin(1)	3						AGCTCAGGAACAGCGCAGCCG	0.652000													5	17					0	0	0.038147	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791255	106791255	+	RNA	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:106791255C>A	ENST00000390613.2	-	0	180																											CAGGGACCTCCCAGGCTGGAC	0.592000													21	96					1.68575e-08	1.87575e-08	0.125774	1	0
GCN1L1	10985	broad.mit.edu	37	12	120596319	120596319	+	Silent	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:120596319C>A	ENST00000300648.6	-	25	2862	c.2850G>T	c.(2848-2850)gcG>gcT	p.A950A		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	950					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.A950A(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGCATCACCGCCCTCTTCA	0.642000													3	7					0.004672	0.0047686	0.115264	1	0
OR10S1	219873	broad.mit.edu	37	11	123847636	123847636	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:123847636A>T	ENST00000531945.1	-	1	852	c.763T>A	c.(763-765)Tgc>Agc	p.C255S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C255S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGCAGTGCAGGGGGAGAAG	0.627000													41	63					0	0	0.246493	0	0
GH2	2689	broad.mit.edu	37	17	61958249	61958249	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:61958249C>T	ENST00000332800.7	-	4	472	c.339G>A	c.(337-339)ctG>ctA	p.L113L	GH2_ENST00000449787.2_Silent_p.L98L|GH2_ENST00000423893.2_Silent_p.L113L|GH2_ENST00000456543.2_Silent_p.L113L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	113						extracellular region	hormone activity	p.L113L(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GCACGGGCTCCAGCCATGACT	0.637000													44	47					0	0	0.139131	0	0
TMEM99	147184	broad.mit.edu	37	17	38990925	38990925	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:38990925C>G	ENST00000301665.3	+	3	461	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	53						integral to membrane		p.Q53E(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				CTCCCTTCCTCAAGTATTCTT	0.478000													69	24					0	0	0.139131	0	0
ANGPT4	51378	broad.mit.edu	37	20	853669	853669	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:853669G>T	ENST00000381922.3	-	9	1548	c.1446C>A	c.(1444-1446)caC>caA	p.H482Q	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	482	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.H482Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCTTGAAGTAGTGCCAGCGGA	0.582000													33	57					5.34276e-22	7.05868e-22	0.139131	1	0
SMARCA1	6594	broad.mit.edu	37	X	128649712	128649712	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:128649712C>T	ENST00000371122.4	-	5	711	c.582G>A	c.(580-582)ttG>ttA	p.L194L	SMARCA1_ENST00000371123.1_Silent_p.L194L|SMARCA1_ENST00000371121.3_Silent_p.L194L|SMARCA1_ENST00000478420.1_5'UTR	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	194					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.L194L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATAAAGAGATCAACCAATTCA	0.353000													110	13					0	0	0.139131	0	0
ANK1	286	broad.mit.edu	37	8	41550662	41550662	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:41550662G>C	ENST00000396942.1	-	30	3673	c.3590C>G	c.(3589-3591)gCc>gGc	p.A1197G	ANK1_ENST00000347528.4_Missense_Mutation_p.A1197G|ANK1_ENST00000289734.7_Missense_Mutation_p.A1197G|ANK1_ENST00000265709.8_Missense_Mutation_p.A1238G|ANK1_ENST00000396945.1_Missense_Mutation_p.A1197G|ANK1_ENST00000379758.2_Missense_Mutation_p.A1197G|ANK1_ENST00000352337.4_Missense_Mutation_p.A1197G			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1197					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A1238G(1)|p.A1197G(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCACTCGTTGGCATATACAAG	0.562000													12	83					0	0	0.105934	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106473981	106473981	+	Missense_Mutation	SNP	C	C	T	rs147662568		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:106473981C>T	ENST00000420470.2	+	1	203	c.59C>T	c.(58-60)gCc>gTc	p.A20V	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.A20V	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	20					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A20V(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AAGAATCTGGCCTTCTTGAGG	0.498000													26	31					0	0	0.099896	0	0
RPTN	126638	broad.mit.edu	37	1	152128437	152128437	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:152128437C>A	ENST00000316073.3	-	3	1202	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	380	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.G380C(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGGCTGACCATAGTGGGAA	0.473000													435	688					1.03697e-209	1.65124e-209	0.139131	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873567	91873567	+	Silent	SNP	T	T	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:91873567T>A	ENST00000373094.1	+	7	4517	c.3672T>A	c.(3670-3672)ccT>ccA	p.P1224P	PCDH11X_ENST00000373097.1_Silent_p.P1214P|PCDH11X_ENST00000361655.2_Silent_p.P1206P|PCDH11X_ENST00000298274.8_Silent_p.P1187P|PCDH11X_ENST00000373088.1_Silent_p.P1187P|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1216P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1224					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P1224P(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACAGTCCTCCTCTAGTGCAGG	0.587000													155	16					0	0	0.139131	0	0
CHAT	1103	broad.mit.edu	37	10	50857656	50857656	+	Missense_Mutation	SNP	A	A	T	rs151031033		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:50857656A>T	ENST00000395562.2	+	11	1708	c.1239A>T	c.(1237-1239)ttA>ttT	p.L413F	CHAT_ENST00000339797.1_Missense_Mutation_p.L377F|CHAT_ENST00000395559.2_Missense_Mutation_p.L377F|CHAT_ENST00000351556.3_Missense_Mutation_p.L377F|CHAT_ENST00000455728.2_Missense_Mutation_p.L377F|CHAT_ENST00000337653.2_Missense_Mutation_p.L495F	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	495					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.L495F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AAGGCCACTTAGCCTCCTCGG	0.612000													39	76					0	0	0.098360	0	0
PTPRK	5796	broad.mit.edu	37	6	128411061	128411061	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:128411061C>A	ENST00000368227.3	-	8	1605	c.1239G>T	c.(1237-1239)ttG>ttT	p.L413F	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.L413F|PTPRK_ENST00000532331.1_Missense_Mutation_p.L413F|PTPRK_ENST00000368207.3_Missense_Mutation_p.L413F|PTPRK_ENST00000368213.5_Missense_Mutation_p.L413F|PTPRK_ENST00000368210.3_Missense_Mutation_p.L413F|PTPRK_ENST00000368226.4_Missense_Mutation_p.L413F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	413	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L413F(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTTGTAACCCAAGGATTCCC	0.438000													25	49					7.41945e-09	8.27261e-09	0.108266	1	0
SKAP1	8631	broad.mit.edu	37	17	46474064	46474064	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:46474064C>G	ENST00000336915.6	-	2	199	c.130G>C	c.(130-132)Ggc>Cgc	p.G44R	SKAP1_ENST00000584924.1_Missense_Mutation_p.G44R	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	44					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.G44C(1)|p.G44L(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TGCTGAAAGCCCCGTAGAATA	0.383000													57	99					0	0	0.139131	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285712	26285712	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:26285712T>C	ENST00000289352.1	-	1	50	c.16A>G	c.(16-18)Aaa>Gaa	p.K6E	HIST1H4H_ENST00000377727.1_Missense_Mutation_p.K6E			P62805	H4_HUMAN	histone cluster 1, H4h	6					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.K6E(1)		lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						TTTCCACCTTTACCACGGCCA	0.498000										HNSCC(76;0.23)			40	54					0	0	0.104719	0	0
CCDC141	285025	broad.mit.edu	37	2	179732787	179732787	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179732787A>G	ENST00000420890.2	-	16	2657	c.2540T>C	c.(2539-2541)tTa>tCa	p.L847S	CCDC141_ENST00000295723.5_Missense_Mutation_p.L272S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	272	Ig-like.						protein binding	p.L272S(1)|p.L847S(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTCGACTCCTAAGGAAAGGGC	0.507000													35	40					0	0	0.225048	0	0
LAMC1	3915	broad.mit.edu	37	1	183099634	183099634	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:183099634G>A	ENST00000258341.4	+	19	3693	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1146	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.E1146K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGTTGATTGAAATCGCATC	0.498000													37	99					0	0	0.203993	0	0
SLC9A9	285195	broad.mit.edu	37	3	143271268	143271268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr3:143271268C>A	ENST00000316549.6	-	9	1233	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	342					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G342V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTGTGTGACTCCACAGAAGAG	0.348000													15	36					8.00594e-06	8.51562e-06	0.189662	1	0
CAMK2B	816	broad.mit.edu	37	7	44282850	44282850	+	Splice_Site	SNP	A	A	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:44282850A>T	ENST00000395749.2	-	8	676	c.601_splice	c.e8+1	p.C200_splice	CAMK2B_ENST00000258682.6_Splice_Site_p.C200_splice|CAMK2B_ENST00000502837.2_Splice_Site_p.C71_splice|CAMK2B_ENST00000395747.2_Splice_Site_p.C200_splice|CAMK2B_ENST00000350811.3_Splice_Site_p.C200_splice|CAMK2B_ENST00000440254.2_Splice_Site_p.C200_splice|CAMK2B_ENST00000358707.3_Splice_Site_p.C200_splice|CAMK2B_ENST00000346990.4_Splice_Site_p.C200_splice|CAMK2B_ENST00000353625.4_Splice_Site_p.C200_splice|CAMK2B_ENST00000457475.1_Splice_Site_p.C200_splice|CAMK2B_ENST00000347193.4_Splice_Site_p.C200_splice	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	200	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.C200*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGCCTCACCACATGCCCAGA	0.612000													11	24					0	0	0.119110	0	0
MED12	9968	broad.mit.edu	37	X	70345900	70345900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:70345900C>T	ENST00000333646.6	+	18	2636	c.2437C>T	c.(2437-2439)Cag>Tag	p.Q813*	MED12_ENST00000374102.1_Nonsense_Mutation_p.Q813*|MED12_ENST00000374080.3_Nonsense_Mutation_p.Q813*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	813					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Q813*(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAGGATGGGCAGAAGCGGCG	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						103	26					0	0	0.139131	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815333	179815333	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:179815333G>A	ENST00000367612.3	-	6	1673	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	429						endoplasmic reticulum membrane|integral to membrane	protein binding	p.S429C(1)|p.S429F(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGGAGTGTCAGAGTTGGTAAA	0.502000													55	128					0	0	0.139131	0	0
TIFAB	497189	broad.mit.edu	37	5	134785271	134785271	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:134785271G>A	ENST00000537858.1	-	2	559	c.359C>T	c.(358-360)aCa>aTa	p.T120I		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	120								p.T120I(1)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCAGGGATGTGCCTTCTTC	0.557000													58	108					0	0	0.139131	0	0
ABCC1	4363	broad.mit.edu	37	16	16130398	16130398	+	Silent	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:16130398G>A	ENST00000399408.2	+	7	922	c.747G>A	c.(745-747)acG>acA	p.T249T	ABCC1_ENST00000351154.5_Silent_p.T249T|ABCC1_ENST00000345148.5_Silent_p.T249T|ABCC1_ENST00000346370.5_Silent_p.T249T|ABCC1_ENST00000349029.5_Silent_p.T249T|ABCC1_ENST00000399410.3_Silent_p.T249T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	249					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T249T(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGGAGGACACGTCGGAACAAG	0.547000													39	70					0	0	0.246493	0	0
GSS	2937	broad.mit.edu	37	20	33533834	33533834	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:33533834T>C	ENST00000216951.2	-	3	295	c.197A>G	c.(196-198)tAt>tGt	p.Y66C	GSS_ENST00000541098.1_5'UTR|GSS_ENST00000451957.2_Missense_Mutation_p.Y66C	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	66					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	p.Y66C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CTGCACAGCATAGGCTTGCTC	0.557000													87	133					0	0	0.139131	0	0
ZNF75D	7626	broad.mit.edu	37	X	134425434	134425434	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:134425434C>A	ENST00000370766.3	-	5	3369	c.660G>T	c.(658-660)tgG>tgT	p.W220C	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	220					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W220C(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATGCCATCTTCCAGTGTTTGA	0.448000													48	7					9.16383e-17	1.14128e-16	0.139131	1	0
HARS2	23438	broad.mit.edu	37	5	140076603	140076603	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140076603G>A	ENST00000230771.3	+	9	1125	c.902G>A	c.(901-903)gGa>gAa	p.G301E	HARS2_ENST00000448069.2_Missense_Mutation_p.G129E|HARS2_ENST00000435019.2_Missense_Mutation_p.G261E|HARS2_ENST00000508522.1_Missense_Mutation_p.G276E|HARS2_ENST00000432671.2_Missense_Mutation_p.G187E|HARS2_ENST00000437649.2_Missense_Mutation_p.G227E	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	301					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.G301E(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGCCTGGGAGACCTAAAG	0.483000													9	388					0	0	0.058154	0	0
DNAH8	1769	broad.mit.edu	37	6	38863991	38863991	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:38863991T>C	ENST00000359357.3	+	58	8533	c.8279T>C	c.(8278-8280)aTa>aCa	p.I2760T	DNAH8_ENST00000441566.1_Missense_Mutation_p.I2724T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I2977T					dynein, axonemal, heavy chain 8									p.I2760T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACCCAAAATATATGAATTG	0.398000													53	71					0	0	0.139131	0	0
FARSA	2193	broad.mit.edu	37	19	13035003	13035003	+	Silent	SNP	C	C	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:13035003C>T	ENST00000588025.1	-	13	1610	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E	FARSA_ENST00000423140.2_Silent_p.E419E|FARSA_ENST00000314606.4_Silent_p.E450E			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	450					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.E450E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCGACACGTTCTCGGGAAGCC	0.597000													65	97					0	0	0.139131	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319012	21319012	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:21319012C>A	ENST00000583088.1	+	3	1253	c.358C>A	c.(358-360)Cgc>Agc	p.R120S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R120S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R120S(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGGCCGGGGCCGCACACCCTG	0.652000										Prostate(3;0.18)			3	41					2.0095e-06	2.15431e-06	0.029380	1	0
OLFM3	118427	broad.mit.edu	37	1	102302475	102302476	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:102302475_102302476insG	ENST00000370103.4	-	2	388_389	c.175_176insC	c.(175-177)ggafs	p.G59fs	OLFM3_ENST00000359814.3_Frame_Shift_Ins_p.G79fs|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Frame_Shift_Ins_p.G79fs|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	79						extracellular region		p.R59L(1)|p.R79L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTTGGCATCCCGGGAACACAGG	0.475													16	61	---	---	---	---					
OR6Y1	391112	broad.mit.edu	37	1	158517172	158517172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:158517172delC	ENST00000302617.3	-	1	723	c.724delG	c.(724-726)cafs	p.A242fs		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGGAGAATGCCTTTTGGCGG	0.512													34	113	---	---	---	---					
FAM71A	149647	broad.mit.edu	37	1	212798729	212798750	+	Frame_Shift_Del	DEL	AATTTACCTCTTGCGGCCACCC	AATTTACCTCTTGCGGCCACCC	-	rs138522825		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:212798729_212798750delAATTTACCTCTTGCGGCCACCC	ENST00000294829.3	+	1	941_962	c.510_531delAATTTACCTCTTGCGGCCACCC	c.(508-531)ctfs	p.LIYLLRPP170fs	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	170										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGGAAAAACTAATTTACCTCTTGCGGCCACCCATGGAGAGTA	0.523													67	223	---	---	---	---					
ZP4	57829	broad.mit.edu	37	1	238045820	238045820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr1:238045820delC	ENST00000366570.4	-	12	1683	c.1525delG	c.(1525-1527)tgfs	p.V509fs	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	509					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGCCTGCCACCCACAGAACT	0.448													51	132	---	---	---	---					
CRIPT	9419	broad.mit.edu	37	2	46846808	46846809	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:46846808_46846809insA	ENST00000238892.3	+	3	257_258	c.125_126insA	c.(124-126)taafs	p.*42fs	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	42						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCTTTGACTTCAAAAAAAGCAA	0.322													14	32	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179577936	179577951	+	Frame_Shift_Del	DEL	GGTGGTCTGGTATTTC	GGTGGTCTGGTATTTC	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr2:179577936_179577951delGGTGGTCTGGTATTTC	ENST00000589042.1	-	93	27134_27149	c.26910_26925delGAAATACCAGACCACC	c.(26908-26925)agfs	p.RKYQTT8970fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.RKYQTT7726fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.RKYQTT8653fs|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8653	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTGTCAGGGTGGTCTGGTATTTCCTTCCACTAC	0.435													9	31	---	---	---	---					
LPHN3	23284	broad.mit.edu	37	4	62845363	62845390	+	Frame_Shift_Del	DEL	GCATCTTCACATTTTGCTTTTTCCGGGG	GCATCTTCACATTTTGCTTTTTCCGGGG	-	rs1397547	by1000genomes	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr4:62845363_62845390delGCATCTTCACATTTTGCTTTTTCCGGGG	ENST00000512091.1	+	17	3431_3458	c.2684_2711delGCATCTTCACATTTTGCTTTTTCCGGGG	c.(2683-2712)tgfs	p.CIFTFCFFRG895fs	LPHN3_ENST00000514996.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000504896.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000514591.1_Frame_Shift_Del_p.CIFTFCFFRG895fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.CIFTFCFFRG963fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.CIFTFCFFRG963fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	882					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTCCTGATTTGCATCTTCACATTTTGCTTTTTCCGGGGGCTCCAGAGT	0.482													11	181	---	---	---	---					
MARCH11	441061	broad.mit.edu	37	5	16067851	16067851	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:16067851delC	ENST00000332432.8	-	4	1137	c.938delG	c.(937-939)cafs	p.R313fs		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	313						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTCACAGCTCGCCAGCGCTT	0.423													15	24	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	90119264	90119264	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:90119264delT	ENST00000405460.2	+	76	16315	c.16219delT	c.(16219-16221)ttfs	p.F5407fs	GPR98_ENST00000425867.2_Frame_Shift_Del_p.F1068fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5407					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTCAAGGTCTTTTGGCGAGT	0.468													40	57	---	---	---	---					
PCDHB15	56121	broad.mit.edu	37	5	140627001	140627002	+	Frame_Shift_Del	DEL	GC	GC	-	rs17844634		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr5:140627001_140627002delGC	ENST00000231173.3	+	1	1855_1856	c.1855_1856delGC	c.(1855-1857)gfs	p.A619fs		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		619	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A619E(1)|p.A619V(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGTGTGGGCGCACAATGGC	0.693													32	49	---	---	---	---					
SLC35F1	222553	broad.mit.edu	37	6	118598709	118598709	+	Splice_Site	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:118598709delG	ENST00000360388.4	+	6	1048	c.847_splice	c.e6+1	p.G283_splice		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	283					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CTGGCAAATAGGTAAGGAGTT	0.433													87	146	---	---	---	---					
MYB	4602	broad.mit.edu	37	6	135522779	135522779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr6:135522779delG	ENST00000341911.5	+	14	2152	c.1953delG	c.(1951-1953)gtfs	p.V651fs	MYB_ENST00000367814.4_Frame_Shift_Del_p.V530fs|MYB_ENST00000534044.1_Intron|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000527615.1_Frame_Shift_Del_p.V530fs|MYB_ENST00000525369.1_Frame_Shift_Del_p.V445fs|MYB_ENST00000534121.1_Frame_Shift_Del_p.V635fs|MYB_ENST00000528774.1_Frame_Shift_Del_p.V648fs|MYB_ENST00000533624.1_Frame_Shift_Del_p.V495fs|MYB_ENST00000442647.2_Frame_Shift_Del_p.V527fs|MYB_ENST00000316528.8_Frame_Shift_Del_p.V530fs	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GCTTTTAGGTGGAATCTCCAA	0.433			T	NFIB	adenoid cystic carcinoma								15	37	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423													2	4	---	---	---	---					
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)cfs	p.L418fs	FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.530													4	2	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139629159	139629159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:139629159delG	ENST00000303045.6	-	54	4314	c.3868delC	c.(3868-3870)ggfs	p.R1290fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Del_p.R1270fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1290	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACTTACCCGGGGACCGGGT	0.577										HNSCC(7;0.00092)			19	71	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	144991960	144991961	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr8:144991960_144991961delGC	ENST00000322810.4	-	32	12608_12609	c.12439_12440delGC	c.(12439-12441)cfs	p.A4147fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.A3988fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.A4010fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A4010fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A3996fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.A4037fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A4033fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A4014fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A3978fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4147	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCAGTGACGGCGCGCTCGGCC	0.614													30	54	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	858953	858961	+	In_Frame_Del	DEL	CCTCTGGTC	CCTCTGGTC	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:858953_858961delCCTCTGGTC	ENST00000316157.3	-	17	2162_2170	c.2122_2130delGACCAGAGG	c.(2122-2130)del	p.DQR708del		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	708							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ccgccggccgccTCTGGTCTCTGGGGGCT	0.651													37	66	---	---	---	---					
ADARB2	105	broad.mit.edu	37	10	1279783	1279783	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:1279783delG	ENST00000381312.1	-	6	1691	c.1366delC	c.(1366-1368)ggfs	p.R457fs	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	457	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCTCGCGCCGCTTGCTAGGG	0.507													50	73	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124358327	124358327	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:124358327delA	ENST00000338354.3	+	26	3100	c.2994delA	c.(2992-2994)ggfs	p.G999fs	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Frame_Shift_Del_p.G999fs|DMBT1_ENST00000368956.2_Frame_Shift_Del_p.G500fs|DMBT1_ENST00000344338.3_Frame_Shift_Del_p.G989fs|DMBT1_ENST00000368955.3_Frame_Shift_Del_p.G989fs|DMBT1_ENST00000330163.4_Frame_Shift_Del_p.G500fs			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	999	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G998G(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGTGAATGGAGGTGACAGGT	0.537													7	468	---	---	---	---					
ADAM8	101	broad.mit.edu	37	10	135086366	135086366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr10:135086366delT	ENST00000445355.3	-	8	691	c.641delA	c.(640-642)cgfs	p.Q214fs	ADAM8_ENST00000415217.3_Frame_Shift_Del_p.Q214fs|ADAM8_ENST00000485491.2_Frame_Shift_Del_p.Q175fs	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	175					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCCCAGCATCTGGAACTGGGG	0.682													15	11	---	---	---	---					
BRSK2	9024	broad.mit.edu	37	11	1467122	1467122	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:1467122delC	ENST00000308219.9	+	12	1597	c.1211delC	c.(1210-1212)gcfs	p.A404fs	BRSK2_ENST00000531197.1_Frame_Shift_Del_p.A404fs|BRSK2_ENST00000528841.1_Frame_Shift_Del_p.A404fs|BRSK2_ENST00000308230.5_Frame_Shift_Del_p.A404fs|BRSK2_ENST00000528710.1_Frame_Shift_Del_p.A344fs|BRSK2_ENST00000544817.1_Frame_Shift_Del_p.A99fs|BRSK2_ENST00000382179.1_Frame_Shift_Del_p.A450fs|BRSK2_ENST00000526678.1_Frame_Shift_Del_p.A404fs	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	404					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ATTGAGATGGCCCAGCACGGC	0.716													39	48	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14101781	14101782	+	RNA	INS	-	-	T	rs72219431		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:14101781_14101782insT	ENST00000310358.7	+	0	1211							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TAttttttttcttttttttttt	0.441													2	4	---	---	---	---					
OR4X1	390113	broad.mit.edu	37	11	48285662	48285662	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:48285662delT	ENST00000320048.1	+	1	250	c.250delT	c.(250-252)ttfs	p.F84fs		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTTTGACTCCTTTATCAAGAG	0.473													45	64	---	---	---	---					
PCNXL3	399909	broad.mit.edu	37	11	65384435	65384435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:65384435delG	ENST00000355703.3	+	2	833	c.294delG	c.(292-294)atfs	p.M98fs		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	98						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTCTACCATGGGGGAGCTGG	0.587													13	23	---	---	---	---					
DLG2	1740	broad.mit.edu	37	11	84027970	84027971	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:84027970_84027971insA	ENST00000280241.8	-	1	217_218	c.218_219insT	c.(217-219)ttgfs	p.L73fs	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.L73fs|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACTGTCCCACAAGGTCCTGTT	0.604													60	105	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													5	8	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26714783	26714784	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:26714783_26714784insA	ENST00000381340.3	-	35	5148_5149	c.4732_4733insT	c.(4732-4734)gagfs	p.E1578fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1578					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGATAGTCTCCAACCCATTGCT	0.436													26	31	---	---	---	---					
ANO6	196527	broad.mit.edu	37	12	45797234	45797234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:45797234delG	ENST00000320560.8	+	15	1997	c.1795delG	c.(1795-1797)gcfs	p.G599fs	ANO6_ENST00000423947.3_Frame_Shift_Del_p.G620fs|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Frame_Shift_Del_p.G599fs|ANO6_ENST00000435642.1_Frame_Shift_Del_p.G599fs|ANO6_ENST00000441606.2_Frame_Shift_Del_p.G581fs	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	599					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.G599C(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGACCCAGGTGGCTGTCTTCT	0.343													43	58	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81741530	81741530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr12:81741530delC	ENST00000550584.2	-	17	2309	c.2014delG	c.(2014-2016)aafs	p.E672fs	PPFIA2_ENST00000550359.2_Frame_Shift_Del_p.E519fs|PPFIA2_ENST00000549396.1_Frame_Shift_Del_p.E672fs|PPFIA2_ENST00000407050.4_Frame_Shift_Del_p.E598fs|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.E654fs|PPFIA2_ENST00000549325.1_Frame_Shift_Del_p.E654fs|PPFIA2_ENST00000552948.1_Frame_Shift_Del_p.E672fs|PPFIA2_ENST00000443686.3_Frame_Shift_Del_p.E573fs|PPFIA2_ENST00000541570.2_Frame_Shift_Del_p.E239fs|PPFIA2_ENST00000548586.1_Frame_Shift_Del_p.E672fs|PPFIA2_ENST00000541017.1_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	598										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGTAGATTCTTTTTCTTCC	0.388													26	85	---	---	---	---					
DLST	1743	broad.mit.edu	37	14	75360126	75360126	+	Splice_Site	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr14:75360126delG	ENST00000334220.4	+	9	732	c.672_splice	c.e9+1	p.R224_splice	DLST_ENST00000334212.6_Splice_Site_p.R138_splice|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	224					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCAGAACATCGGGTAAGCCTC	0.517													38	69	---	---	---	---					
RBBP6	5930	broad.mit.edu	37	16	24583448	24583448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr16:24583448delA	ENST00000319715.4	+	18	5493	c.5061delA	c.(5059-5061)atfs	p.I1687fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.I1653fs|RBBP6_ENST00000381039.3_Frame_Shift_Del_p.I847fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1687					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGTGGGCATAAGCAGGAATC	0.527													45	90	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577537	7577537	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:7577537delC	ENST00000420246.2	-	7	876	c.744delG	c.(742-744)cgfs	p.R249fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.R249fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R249fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.R249fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R249fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R249fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.R248R(8)|p.?(5)|p.R248Q(5)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.R248L(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R248C(1)|p.R249fs*14(1)|p.R249fs*15(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGATGGGCCTCCGGTTCATGC	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	18	---	---	---	---					
LRRC37A16P	651250	broad.mit.edu	37	17	66131215	66131215	+	RNA	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:66131215delG	ENST00000590019.1	-	0	298																											GCTCCTCTTCGGGGATCTTGC	0.572													13	19	---	---	---	---					
CARD14	79092	broad.mit.edu	37	17	78175564	78175564	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr17:78175564delC	ENST00000573882.1	+	16	2409	c.1873delC	c.(1873-1875)ccfs	p.P625fs	CARD14_ENST00000344227.2_Frame_Shift_Del_p.P625fs|CARD14_ENST00000570421.1_Frame_Shift_Del_p.P625fs|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000392434.2_Intron			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	625	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCCTCAGAGCCCTTGTTCAA	0.597													66	24	---	---	---	---					
LAMA1	284217	broad.mit.edu	37	18	7036007	7036008	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:7036007_7036008insA	ENST00000389658.3	-	13	1910_1911	c.1817_1818insT	c.(1816-1818)tcafs	p.S606fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	606	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.S606S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTCAGCATGCGACATGAGGTT	0.436													12	58	---	---	---	---					
ZNF521	25925	broad.mit.edu	37	18	22804911	22804911	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr18:22804911delG	ENST00000361524.3	-	4	3119	c.2971delC	c.(2971-2973)ggfs	p.R991fs	ZNF521_ENST00000538137.2_Frame_Shift_Del_p.R991fs|ZNF521_ENST00000584787.1_Frame_Shift_Del_p.R771fs	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	991					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGCAAATCCGGCAGTTTCCA	0.478			T	PAX5	ALL								41	59	---	---	---	---					
TRAPPC6A	79090	broad.mit.edu	37	19	45667459	45667460	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr19:45667459_45667460insT	ENST00000006275.4	-	4	376_377	c.358_359insA	c.(358-360)ggcfs	p.G120fs	TRAPPC6A_ENST00000588062.1_Frame_Shift_Ins_p.G83fs|TRAPPC6A_ENST00000592647.1_Frame_Shift_Ins_p.G97fs|TRAPPC6A_ENST00000585934.1_Frame_Shift_Ins_p.G106fs	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	106				SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).	vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		GCCAGAGGCCATCGGGAGGAGG	0.634													16	6	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													2	4	---	---	---	---					
APCDD1L-AS1	149773	broad.mit.edu	37	20	57159888	57159891	+	RNA	DEL	CTTC	CTTC	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chr20:57159888_57159891delCTTC	ENST00000427140.1	+	0	943					NR_034147.1																						tcccttctttcttccttccttcct	0.534													7	14	---	---	---	---					
ALG13	79868	broad.mit.edu	37	X	110951500	110951502	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:110951500_110951502delACT	ENST00000394780.3	+	4	641_643	c.629_631delACT	c.(628-633)aac>a	p.NY210del	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_In_Frame_Del_p.NY106del	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	210					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GGATGGAAAAACTACTGCAGCCA	0.478													26	84	---	---	---	---					
SPANXN2	494119	broad.mit.edu	37	X	142795501	142795501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4397-01A-01D-1265-08	TCGA-05-4397-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b7be121-49af-4a44-95dd-0a487d47228f	abaccb0a-5f60-45d6-aea2-6fb33a82b011	g.chrX:142795501delC	ENST00000370498.1	-	2	930	c.177delG	c.(175-177)aafs	p.K59fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	59										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCGTATGCTTCCTGTAGT	0.448													161	28	---	---	---	---					
