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
TRAF3IP2	10758	broad.mit.edu	37	6	111913106	111913106	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:111913106G>C	ENST00000368761.5	-	2	662	c.184C>G	c.(184-186)Caa>Gaa	p.Q62E	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.Q71E|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Q62E	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	71					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAGTGAGCTTGAGAAAAGTCT	0.512000													18	75					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448750	89448750	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:89448750C>A	ENST00000399794.2	-	3	1475	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D254Y|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	254							nucleotide binding|RNA binding										GATGGATAGTCATCACGTGAA	0.433000													40	48					5.04308e-16	5.39817e-16	1	1	0
ACLY	47	broad.mit.edu	37	17	40027972	40027972	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40027972C>T	ENST00000352035.2	-	25	3037	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	ACLY_ENST00000393896.2_Silent_p.L959L|ACLY_ENST00000353196.1_Silent_p.L959L|ACLY_ENST00000537919.1_Silent_p.L698L|ACLY_ENST00000590151.1_Silent_p.L969L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	969					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGCCCATGATCAGCTTCCCTT	0.517000													22	49					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41514466	41514466	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:41514466G>C	ENST00000402904.2	-	11	1540	c.1172C>G	c.(1171-1173)tCt>tGt	p.S391C	SCMH1_ENST00000456518.2_Missense_Mutation_p.S233C|SCMH1_ENST00000361191.5_Missense_Mutation_p.S330C|SCMH1_ENST00000397171.2_Missense_Mutation_p.S330C|SCMH1_ENST00000372595.1_Missense_Mutation_p.S330C|SCMH1_ENST00000361705.3_Missense_Mutation_p.S344C|SCMH1_ENST00000372597.1_Missense_Mutation_p.S344C|SCMH1_ENST00000397174.2_Missense_Mutation_p.S371C|SCMH1_ENST00000337495.5_Missense_Mutation_p.S401C|SCMH1_ENST00000326197.7_Missense_Mutation_p.S391C|SCMH1_ENST00000372596.1_Missense_Mutation_p.S330C	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	391					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CAACACCACAGAGGCACGGGC	0.512000													46	107					0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78398199	78398199	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:78398199C>T	ENST00000258930.3	-	5	752	c.424G>A	c.(424-426)Gag>Aag	p.E142K	CIB2_ENST00000557846.1_Missense_Mutation_p.E93K|CIB2_ENST00000539011.1_Missense_Mutation_p.E99K|CIB2_ENST00000560618.1_Missense_Mutation_p.E99K	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	142							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						ACCTCCTCCTCATCCAGCTCT	0.562000													27	54					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77311209	77311209	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:77311209C>G	ENST00000393774.3	+	7	816	c.692C>G	c.(691-693)tCt>tGt	p.S231C	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	231										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AACCAATTCTCTGATGTAGGA	0.478000													8	14					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746482	746482	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:746482G>A	ENST00000264560.7	+	8	894	c.700G>A	c.(700-702)Gca>Aca	p.A234T	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.A278T	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	278					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CGGTGTGCAGGCACAGCCAGG	0.726000													13	26					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512804	101512804	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:101512804G>C	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA	NR_104192.1																						GGTACTTGGAGAGTGGTTATC	0.507000													17	58					0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247201107	247201107	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:247201107C>G	ENST00000366503.2	-	4	972	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	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;0.00427)			TGCGTTCTTTCATGTATTCCC	0.423000													26	47					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72425365	72425365	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:72425365G>A	ENST00000333850.3	+	11	1504	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	455					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACAGAGTATTGAAATTCTGAA	0.393000													26	51					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18826437	18826437	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:18826437G>A	ENST00000380548.4	+	22	4429	c.4090G>A	c.(4090-4092)Gag>Aag	p.E1364K	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.E65K	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1364	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGAGCTGACTGAGAGCACCCA	0.567000													4	30					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98649874	98649874	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:98649874C>T	ENST00000361125.1	-	7	994	c.675G>A	c.(673-675)caG>caA	p.Q225Q	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Silent_p.Q225Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	225					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GTGGTCGGTTCTGGGGCGTCT	0.567000													47	127					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67938521	67938521	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:67938521C>T	ENST00000304363.4	-	9	1291	c.938G>A	c.(937-939)gGa>gAa	p.G313E	SUV420H1_ENST00000405515.1_Missense_Mutation_p.G313E|SUV420H1_ENST00000401547.2_Missense_Mutation_p.G313E|SUV420H1_ENST00000402789.1_Missense_Mutation_p.G313E|SUV420H1_ENST00000402185.2_Missense_Mutation_p.G290E	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			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						ATTATTTTCTCCAAAGAACCC	0.373000													14	19					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163230013	163230013	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:163230013G>C	ENST00000332142.5	-	15	3390	c.3291C>G	c.(3289-3291)atC>atG	p.I1097M		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1097					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTCAGTTTTGATGGATGCTT	0.498000													21	48					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420445	23420445	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:23420445G>A	ENST00000302291.4	-	4	1111	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	LUZP1_ENST00000374623.3_Missense_Mutation_p.R104W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R104W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R104W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	104						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCAGCTCCCGGGTGAGGTTT	0.478000													41	72					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38522380	38522380	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:38522380C>T	ENST00000332509.3	-	10	1608	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	PLA2G6_ENST00000490473.1_5'UTR|PLA2G6_ENST00000335539.3_Silent_p.R421R|PLA2G6_ENST00000402064.1_Silent_p.R421R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	475					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCACTTACGTCCGCTTCTCGT	0.617000													18	64					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88232508	88232508	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:88232508G>C	ENST00000298767.5	-	6	2226	c.1754C>G	c.(1753-1755)tCa>tGa	p.S585*		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	585	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGGTTCCTTTGAAGACAGCCT	0.343000													6	11					0	0	1	0	0
SMCO3	440087	broad.mit.edu	37	12	14959138	14959138	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:14959138G>A	ENST00000316048.2	-	2	549	c.477C>T	c.(475-477)ctC>ctT	p.L159L	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		TACTACCAAGGAGAGAAGCAC	0.468000													28	60					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19492958	19492958	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:19492958G>A	ENST00000407835.1	+	11	1034	c.778G>A	c.(778-780)Gag>Aag	p.E260K	CDC45_ENST00000263201.1_Missense_Mutation_p.E260K|CDC45_ENST00000404724.3_Missense_Mutation_p.E214K|CDC45_ENST00000437685.2_Missense_Mutation_p.E292K			O75419	CDC45_HUMAN	cell division cycle 45	260					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CGAGGATGAGGAGAACACACT	0.562000													6	41					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62162156	62162156	+	Silent	SNP	G	G	A	rs140522443		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:62162156G>A	ENST00000217185.2	-	6	984	c.957C>T	c.(955-957)ctC>ctT	p.L319L	PTK6_ENST00000542869.1_Silent_p.L218L	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	319	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TTTCCCCGACGAGGATGTTCC	0.622000													23	53					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62517383	62517383	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:62517383C>T	ENST00000217121.5	+	6	563	c.491C>T	c.(490-492)tCa>tTa	p.S164L	TPD52L2_ENST00000351424.4_Missense_Mutation_p.S144L|TPD52L2_ENST00000346249.4_Intron|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000352482.4_Intron|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000358548.4_Intron	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	157					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CATCCATTTTCACACTCCTTT	0.597000													26	57					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47776178	47776178	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:47776178C>T	ENST00000263773.5	-	3	364	c.352G>A	c.(352-354)Gac>Aac	p.D118N	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	118										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTGTCATCGTCATCACTGTCA	0.393000													19	43					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1806263	1806263	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:1806263G>A	ENST00000518288.1	+	4	410	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E59K|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E83K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E83K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E59K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E83K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	83					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGAGCCAGTGAAGCCCCTGC	0.617000													12	19					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22206972	22206972	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:22206972G>T	ENST00000374695.3	-	16	2158	c.2079C>A	c.(2077-2079)ctC>ctA	p.L693L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	693	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGTCTGGATGAGCACGGCCT	0.647000													8	37					7.48243e-07	7.71814e-07	1	1	0
SYN2	6854	broad.mit.edu	37	3	12208804	12208804	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:12208804G>A	ENST00000432424.2	+	0	1223							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCCATGTCAGACAGGTGAGT	0.512000													6	12					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721847	56721847	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:56721847C>G	ENST00000425394.2	-	5	959	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	PAN2_ENST00000440411.3_Missense_Mutation_p.E195Q|PAN2_ENST00000257931.5_Missense_Mutation_p.E195Q|PAN2_ENST00000548043.1_Missense_Mutation_p.E195Q	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	195					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCAGGCGTCTCTACTGCATAC	0.512000													12	33					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137562	63137562	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:63137562G>A	ENST00000279178.3	+	1	283	c.34G>A	c.(34-36)Gac>Aac	p.D12N	SLC22A9_ENST00000310969.4_Missense_Mutation_p.D12N	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	12					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TCACGCTGGTGACCTGTGGAG	0.453000													29	57					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32726904	32726904	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:32726904G>C	ENST00000421745.2	+	47	9290	c.9156G>C	c.(9154-9156)atG>atC	p.M3052I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3052					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGTCCACATGATGCTGCAGC	0.393000													26	51					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462210	224462210	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:224462210G>A	ENST00000305409.2	-	2	2023	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	597					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTTGGTTGAGGTATTCCA	0.443000													26	35					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25617444	25617444	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:25617444C>T	ENST00000398215.2	+	2	219	c.48C>T	c.(46-48)aaC>aaT	p.N16N		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	16	N-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AGTCCCTCAACCCCAAGGTGG	0.567000													19	51					0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315375	120315375	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:120315375C>G	ENST00000485064.1	+	1	201	c.169C>G	c.(169-171)Cga>Gga	p.R57G	NDUFB4_ENST00000184266.2_Missense_Mutation_p.R57G|NDUFB4_ENST00000492739.1_Missense_Mutation_p.R57G	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	57					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TCCCAACCGCCGAGGGCTCAT	0.637000													8	15					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534409	20534409	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:20534409C>G	ENST00000377252.4	+	13	2289	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.S434*|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CACCCAACATCAGCAGCCAGC	0.463000													46	184					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47984069	47984069	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:47984069C>G	ENST00000338134.3	-	6	654	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	183					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGCTGTTCCTCAAACTGATGC	0.607000													52	142					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	564905	564905	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:564905C>T	ENST00000230449.4	-	14	1603	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	EXOC2_ENST00000448181.3_Missense_Mutation_p.E85K	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	490					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTGATCTTTCAATCTGGCCT	0.308000													27	30					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65443231	65443231	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:65443231G>A	ENST00000300107.3	-	14	2020	c.1832C>T	c.(1831-1833)tCt>tTt	p.S611F		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	611					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CTCCTCTTCAGAGGATTCTTT	0.378000													42	65					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128700017	128700017	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:128700017C>T	ENST00000357702.5	-	20	3205	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	SAP130_ENST00000259234.6_Missense_Mutation_p.R998Q|SAP130_ENST00000259235.3_Missense_Mutation_p.R990Q	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	990	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTCGTTTATTCGGTGGAGATC	0.438000													16	38					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23557536	23557536	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:23557536C>T	ENST00000300619.7	-	2	266	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	ZNF91_ENST00000397082.2_Missense_Mutation_p.E21K|ZNF91_ENST00000599743.1_Missense_Mutation_p.E21K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	21	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGAGAGAATTCTATGGCCACA	0.423000													32	97					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957045	33957045	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:33957045C>A	ENST00000361328.3	+	6	1340	c.1187C>A	c.(1186-1188)cCa>cAa	p.P396Q	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.P342Q	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	396					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCCACCCACCAGGTACCTGC	0.607000													33	100					2.68265e-12	2.83354e-12	1	1	0
CCDC102A	92922	broad.mit.edu	37	16	57550240	57550240	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:57550240C>T	ENST00000258214.2	-	7	1630	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	462										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTCTTGAGCTCCTCCACCCGC	0.662000													15	52					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99517059	99517059	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:99517059G>A	ENST00000393677.4	+	11	1284	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L	ZFYVE27_ENST00000357540.4_Silent_p.L267L|ZFYVE27_ENST00000359980.3_Silent_p.L353L|ZFYVE27_ENST00000370613.3_Silent_p.L235L|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000370610.3_Silent_p.L260L|ZFYVE27_ENST00000453958.2_Intron|ZFYVE27_ENST00000337540.7_Silent_p.L321L|ZFYVE27_ENST00000356257.4_Silent_p.L365L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	360					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TCTCAGTGCTGAAGAAGAGGG	0.597000													34	32					0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62496386	62496386	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62496386G>A	ENST00000513247.2	+	2	717	c.465G>A	c.(463-465)ggG>ggA	p.G155G	TTC9C_ENST00000532583.1_Silent_p.G22G|TTC9C_ENST00000316461.4_Silent_p.G22G			Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	22							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ACCGGGAAGGGAAGTACCGAG	0.582000													18	51					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013835	156013835	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156013835C>T	ENST00000368309.3	-	6	1172	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	360						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TCGAGACTGTCGGGTGCACCT	0.682000													17	31					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575935	49575935	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:49575935C>T	ENST00000244051.1	+	1	573	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	186					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGTGCCCACTCGCTACCTGGT	0.607000													35	82					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895440	42895440	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:42895440G>C	ENST00000399770.2	+	1	157	c.157G>C	c.(157-159)Gat>Cat	p.D53H		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	53					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTGTGGGATAGATGGACTAGG	0.507000													43	68					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45888872	45888872	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:45888872C>T	ENST00000418234.2	-	11	2274	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	PPP1R13L_ENST00000360957.5_Silent_p.E732E	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	732					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTCGCACTTCTCGAAGGCGG	0.682000													12	38					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8013370	8013370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:8013370C>A	ENST00000533626.1	+	4	1033	c.407C>A	c.(406-408)tCa>tAa	p.S136*	EIF3F_ENST00000537635.1_Nonsense_Mutation_p.S151*|EIF3F_ENST00000309828.4_Nonsense_Mutation_p.S136*|EIF3F_ENST00000449102.2_Intron			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	136	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATTGCTTTTCAGTGCCGCAC	0.493000													45	123					8.04919e-23	8.68143e-23	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27101254	27101254	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:27101254G>C	ENST00000324856.7	+	18	4907	c.4536G>C	c.(4534-4536)caG>caC	p.Q1512H	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1129H|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1512					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAACAGGCAGAGCACGGGCT	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								51	106					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2847550	2847550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrY:2847550C>G	ENST00000155093.3	+	8	2243	c.1922C>G	c.(1921-1923)tCa>tGa	p.S641*	ZFY_ENST00000449237.1_Nonsense_Mutation_p.S564*|ZFY_ENST00000383052.1_Nonsense_Mutation_p.S641*|ZFY_ENST00000431102.1_Nonsense_Mutation_p.S450*|ZFY-AS1_ENST00000417305.1_RNA	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						AGTTCAAACTCAAGTGATTTG	0.408000													24	8					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	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)			11	31					0	0	1	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486676	11486676	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:11486676C>G	ENST00000312423.2	+	2	733	c.674C>G	c.(673-675)tCt>tGt	p.S225C		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	225																	GGTTCAAGCTCTGGAGGCCAG	0.552000													9	8					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799265	47799265	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47799265C>G	ENST00000591416.1	-	14	2076	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	MBD1_ENST00000587605.1_Missense_Mutation_p.E447Q|MBD1_ENST00000382948.5_Missense_Mutation_p.E549Q|MBD1_ENST00000457839.2_Missense_Mutation_p.E574Q|MBD1_ENST00000349085.2_Missense_Mutation_p.E447Q|MBD1_ENST00000269468.5_Missense_Mutation_p.E549Q|MBD1_ENST00000339998.6_Missense_Mutation_p.E503Q|MBD1_ENST00000590208.1_Missense_Mutation_p.E549Q|MBD1_ENST00000347968.3_Missense_Mutation_p.E493Q|MBD1_ENST00000585672.1_Missense_Mutation_p.E499Q|MBD1_ENST00000398488.1_Missense_Mutation_p.E447Q|MBD1_ENST00000591535.1_Missense_Mutation_p.E480Q|MBD1_ENST00000398495.2_Missense_Mutation_p.E518Q|MBD1_ENST00000424334.2_Missense_Mutation_p.E600Q|MBD1_ENST00000436910.1_Missense_Mutation_p.E480Q|MBD1_ENST00000398493.1_Missense_Mutation_p.E493Q|MBD1_ENST00000585595.1_Missense_Mutation_p.E574Q|MBD1_ENST00000353909.3_Missense_Mutation_p.E500Q|MBD1_ENST00000269471.5_Missense_Mutation_p.E480Q|MBD1_ENST00000588937.1_Missense_Mutation_p.E480Q			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	549	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTGTTCTCCTCCTTGTCCTCC	0.597000													38	82					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145582012	145582012	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:145582012C>G	ENST00000331890.5	-	1	160	c.96G>C	c.(94-96)ccG>ccC	p.P32P	FBXL6_ENST00000455319.2_Silent_p.P32P	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	32	F-box.				proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGAGCCCCTCGGCGCCAGCC	0.776000													9	9					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121330348	121330348	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:121330348G>A	ENST00000339397.4	+	4	325	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TATCAACTTTGAAAAAATCTT	0.264000													4	8					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734121	58734121	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:58734121G>A	ENST00000305921.3	+	5	1411	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	393					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGTTATACCTGAACCTGACTG	0.433000													15	51					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69349124	69349124	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:69349124C>G	ENST00000370598.1	+	3	1378	c.557C>G	c.(556-558)aCa>aGa	p.T186R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	186					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)				AATGGGAGAACAGAATCATGT	0.438000													20	44					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269256	123269256	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:123269256G>C	ENST00000451558.1	+	12	1729	c.1208G>C	c.(1207-1209)gGa>gCa	p.G403A	ASB15_ENST00000434204.1_Missense_Mutation_p.G403A|ASB15_ENST00000451215.1_Missense_Mutation_p.G403A|ASB15_ENST00000540573.1_Missense_Mutation_p.G403A|ASB15_ENST00000275699.3_Missense_Mutation_p.G403A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	403					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTCTCCCATGGAGCTAATGTC	0.448000													18	48					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248282	3248282	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:3248282G>A	ENST00000217939.6	-	4	640	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	162						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGTGGAGGAGATTTCCTT	0.468000													25	10					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172661934	172661934	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:172661934G>C	ENST00000329198.4	-	1	426	c.153C>G	c.(151-153)ttC>ttG	p.F51L	NKX2-5_ENST00000424406.2_Missense_Mutation_p.F51L|NKX2-5_ENST00000521848.1_Missense_Mutation_p.F51L	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	51	Ala/Pro-rich.		F -> L (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTCTGGCTTGAAGGCGGCCA	0.726000													3	8					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933894	10933894	+	Missense_Mutation	SNP	C	C	G	rs148357558		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:10933894C>G	ENST00000298232.7	-	16	1298	c.931G>C	c.(931-933)Gat>Cat	p.D311H	TPTE_ENST00000361285.4_Missense_Mutation_p.D329H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D291H	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	329	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D311N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTTTCAAGATCTTGAGCCATC	0.318000													27	185					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750505	50750505	+	Missense_Mutation	SNP	G	G	A	rs61755272		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:50750505G>A	ENST00000300589.2	+	5	2575	c.2470G>A	c.(2470-2472)Gat>Aat	p.D824N		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	824					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TAGTTTGCGCGATAACAATAT	0.408000													7	25					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791252	237791252	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:237791252G>C	ENST00000366574.2	+	41	6629	c.6312G>C	c.(6310-6312)aaG>aaC	p.K2104N	RYR2_ENST00000360064.6_Missense_Mutation_p.K2102N|RYR2_ENST00000542537.1_Missense_Mutation_p.K2088N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2104	4 X approximate repeats.				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			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)			CCCTGCCAAAGACCTACACGA	0.552000													15	28					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799144	16799144	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:16799144G>A	ENST00000187762.2	+	6	953	c.862G>A	c.(862-864)Gag>Aag	p.E288K		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	288						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GGAGTTGAGCGAGGGCTCCAG	0.657000													23	46					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152195631	152195631	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:152195631C>T	ENST00000368801.2	-	2	174	c.99G>A	c.(97-99)ctG>ctA	p.L33L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	33	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			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)			GAAGTTCTTTCAGCTCTGCCT	0.428000													29	65					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75201397	75201397	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:75201397G>C	ENST00000413679.2	+	11	1441	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	SEC14L1_ENST00000591437.1_Missense_Mutation_p.E346Q|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E380Q|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E380Q|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E380Q|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E346Q|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E380Q|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E380Q	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	380	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCGATGCGAAGAGAATACAAA	0.368000													11	31					0	0	1	0	0
LSMEM2	132228	broad.mit.edu	37	3	50316587	50316587	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:50316587G>C	ENST00000316436.3	+	1	130	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_153215.1	NP_694947.1			leucine-rich single-pass membrane protein 2																		TGCCATGCCTGAGGAGACCCA	0.602000													18	45					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95679735	95679735	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:95679735G>C	ENST00000298912.4	-	6	542	c.429C>G	c.(427-429)ctC>ctG	p.L143L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	143	Actin-binding.					integral to membrane	actin binding			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)		GGTTGCCTGTGAGCTCCTTAA	0.572000													13	46					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409484	47409484	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:47409484C>T	ENST00000378688.4	-	3	1035	c.904G>A	c.(904-906)Gag>Aag	p.E302K	HTR2A_ENST00000543956.1_Missense_Mutation_p.E218K|HTR2A_ENST00000542664.1_Missense_Mutation_p.E302K			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	302					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GACCCTGGCTCCCTATGGATC	0.507000													17	28					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52789519	52789519	+	Silent	SNP	C	C	T	rs116104487	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:52789519C>T	ENST00000216862.3	-	2	771	c.378G>A	c.(376-378)ccG>ccA	p.P126P	CYP24A1_ENST00000395955.3_Silent_p.P126P	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	126					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCAGCCGCTGCGGGTACGCGC	0.602000													31	79					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	425418	425418	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:425418C>T	ENST00000431232.2	-	7	1402	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	TMEM8A_ENST00000250930.3_Silent_p.E221E	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	414					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTACGACGGTCTCGTTCCGCA	0.637000													30	46					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73785502	73785502	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:73785502C>G	ENST00000334126.7	-	24	4973	c.4747G>C	c.(4747-4749)Gag>Cag	p.E1583Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1583Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1583						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGCTGCTCAGACTCACTG	0.572000													9	33					0	0	1	0	0
PRRT1	80863	broad.mit.edu	37	6	32118633	32118633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:32118633G>A	ENST00000211413.5	-	2	194	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	24					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCTGGAGGCTGAGGGGCATTG	0.622000													7	6					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111346769	111346769	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:111346769G>C	ENST00000441448.2	+	10	997	c.905G>C	c.(904-906)aGa>aCa	p.R302T		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	302						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAGTCAAAAAGAATTAAAAAA	0.373000													10	21					0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72640017	72640017	+	RNA	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:72640017C>G	ENST00000423083.1	+	0	158					NR_003186.1																						ACCAAGATCTCCCGCTGTCCC	0.617000													10	31					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24518535	24518535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:24518535G>A	ENST00000355123.4	-	14	2076	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q545*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q545*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	545					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTTACCTGAAGTTCCTGT	0.428000													16	36					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68856094	68856094	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:68856094G>A	ENST00000261769.5	+	12	2093	c.1902G>A	c.(1900-1902)gcG>gcA	p.A634A	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.A573A|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	634	Cadherin 5.		A -> V (found in a gastric cancer sample; cells exhibited decreased aggregation increased invasiveness and non-uniform migration in vitro compared to cells transfected with wild-type sequence).	ASA -> RVP (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACACGGGGCGAGTGCCAACT	0.498000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				19	50					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92126043	92126043	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:92126043G>A	ENST00000248633.4	-	17	2862	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	PEX1_ENST00000438045.1_Missense_Mutation_p.R601W|PEX1_ENST00000428214.1_Missense_Mutation_p.R866W|PEX1_ENST00000541751.1_3'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	923					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAATATCCCGAACAGCTTGT	0.303000													38	78					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116227977	116227977	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:116227977G>A	ENST00000355485.2	+	7	1414	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	VANGL1_ENST00000310260.3_Silent_p.Q381Q|VANGL1_ENST00000369510.4_Silent_p.Q379Q|VANGL1_ENST00000369509.1_Silent_p.Q381Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	381					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGAGCAGCAGAAAGCCCCAG	0.597000													19	36					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45771742	45771742	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:45771742G>C	ENST00000327619.5	+	10	1307	c.933G>C	c.(931-933)atG>atC	p.M311I	EYA2_ENST00000357410.3_Missense_Mutation_p.M311I|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	311					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGGAAGAGATGATCTTCAACC	0.468000													17	48					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155569163	155569163	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:155569163C>T	ENST00000461783.3	+	22	4955	c.3682C>T	c.(3682-3684)Ctg>Ttg	p.L1228L	TIAM2_ENST00000367174.2_Silent_p.L604L|TIAM2_ENST00000529824.2_Silent_p.L1228L|TIAM2_ENST00000456144.1_Silent_p.L1228L|TIAM2_ENST00000360366.4_Silent_p.L1252L|TIAM2_ENST00000528391.2_Silent_p.L564L|TIAM2_ENST00000456877.2_Silent_p.L540L|TIAM2_ENST00000275246.7_Silent_p.L153L|TIAM2_ENST00000318981.5_Silent_p.L1228L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1228	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAAGGCTTTTCTGGACGCCCG	0.488000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	37					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675379	3675379	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:3675379G>T	ENST00000344754.4	-	11	2874	c.2875C>A	c.(2875-2877)Cat>Aat	p.H959N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H959N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	959	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			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						GCTTGGCAATGATAGGCCCCA	0.607000													33	52					1.60099e-16	1.71515e-16	1	1	0
PPHLN1	51535	broad.mit.edu	37	12	42749000	42749000	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:42749000C>G	ENST00000432191.2	+	3	182	c.110C>G	c.(109-111)tCt>tGt	p.S37C	PPHLN1_ENST00000358314.7_Missense_Mutation_p.S92C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S99C|PPHLN1_ENST00000395568.2_Missense_Mutation_p.S92C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S110C|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Missense_Mutation_p.S37C|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S92C|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000317560.9_Missense_Mutation_p.S44C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.S44C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	92					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GACGATCATTCTGCAAGCAGG	0.348000													14	31					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315698	30315698	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:30315698C>G	ENST00000375377.1	-	3	3480	c.3379G>C	c.(3379-3381)Gag>Cag	p.E1127Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1127										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GATAGCAACTCTTCCTGGGGG	0.637000													34	98					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402011	197402011	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:197402011C>T	ENST00000273582.5	-	21	3207	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	KIAA0226_ENST00000296343.5_Missense_Mutation_p.E933K	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	933	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCAGCCGCTCGCAGCGCGGA	0.597000													36	93					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67410275	67410275	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:67410275C>T	ENST00000255082.3	-	8	1050	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	ACY3_ENST00000529256.1_Missense_Mutation_p.A173T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	294					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGGACAAAGGCAACGCCCTTC	0.577000													36	101					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42148790	42148790	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:42148790C>G	ENST00000320955.6	-	53	9042	c.8815G>C	c.(8815-8817)Gag>Cag	p.E2939Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2939					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATCTCACTCTCCAGGTTCTGC	0.632000													4	13					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799761	47799761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47799761C>T	ENST00000591416.1	-	13	1958	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Nonsense_Mutation_p.W509*|MBD1_ENST00000457839.2_Nonsense_Mutation_p.W534*|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_Nonsense_Mutation_p.W509*|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000590208.1_Nonsense_Mutation_p.W509*|MBD1_ENST00000347968.3_Nonsense_Mutation_p.W453*|MBD1_ENST00000585672.1_Nonsense_Mutation_p.W459*|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398495.2_Nonsense_Mutation_p.W478*|MBD1_ENST00000424334.2_Nonsense_Mutation_p.W560*|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000398493.1_Nonsense_Mutation_p.W453*|MBD1_ENST00000585595.1_Nonsense_Mutation_p.W534*|MBD1_ENST00000353909.3_Nonsense_Mutation_p.W460*|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	509					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGCCTGGTGTCCACTCGTCCT	0.607000													28	55					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157435459	157435459	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:157435459C>G	ENST00000310454.6	+	14	2198	c.1826C>G	c.(1825-1827)tCa>tGa	p.S609*	GPD2_ENST00000409674.1_Nonsense_Mutation_p.S609*|GPD2_ENST00000409125.4_Nonsense_Mutation_p.S382*|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Nonsense_Mutation_p.S609*	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	609					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AAATCTCGATCAGAACAGTTA	0.353000													22	47					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15535971	15535971	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:15535971C>G	ENST00000455584.2	-	4	910	c.867G>C	c.(865-867)aaG>aaC	p.K289N	TRIM16_ENST00000336708.7_Missense_Mutation_p.K289N|TRIM16_ENST00000578237.1_Missense_Mutation_p.K289N|TRIM16_ENST00000416464.2_Missense_Mutation_p.K159N|TRIM16_ENST00000577886.1_Missense_Mutation_p.K73N|TRIM16_ENST00000579219.1_Intron																							CTTCAGTGTTCTTAAACTTGC	0.438000													16	39					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620436	70620436	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:70620436C>T	ENST00000310613.3	-	3	526	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GGAACTTTTTCAGTAATAAAA	0.313000													17	30					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235318295	235318295	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:235318295G>A	ENST00000408888.3	-	4	728	c.498C>T	c.(496-498)gtC>gtT	p.V166V	RBM34_ENST00000366606.3_Silent_p.V161V			P42696	RBM34_HUMAN	RNA binding motif protein 34	166						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTTTGACTGACAACTGTGT	0.348000													18	30					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12934065	12934065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:12934065C>T	ENST00000379348.2	+	4	628	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGCCCTGTTCAAGGAGCTAA	0.522000													16	43					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375963	113375963	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:113375963C>T	ENST00000316407.4	-	7	4976	c.4566G>A	c.(4564-4566)caG>caA	p.Q1522Q	KIAA2018_ENST00000478658.1_Silent_p.Q1522Q|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1522	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTCTTTTTCTGCATCTGAA	0.502000													16	41					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123887998	123887998	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:123887998G>C	ENST00000373855.1	+	14	2069	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H	CNTRL_ENST00000373847.1_Missense_Mutation_p.Q51H|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q603H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q51H			Q7Z7A1	CNTRL_HUMAN	centriolin	603					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCTTAGGCCAGATAGCAGCAA	0.413000													47	64					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63533173	63533173	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:63533173C>T	ENST00000307078.5	-	7	2034	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	574				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGTACTGCCTCTGCTGCCGCT	0.657000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				13	16					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375740	46375740	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:46375740G>A	ENST00000302177.2	+	2	674	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	159					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AGAATCAGCAGCGCTGGCAGA	0.587000													52	123					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77253645	77253645	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:77253645C>G	ENST00000388914.3	-	19	2963		c.e19-1			NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158											breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCTATCCTCTCTGTATAGAAA	0.313000													10	24					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134034796	134034796	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:134034796G>A	ENST00000359428.5	+	18	2607	c.2463G>A	c.(2461-2463)gtG>gtA	p.V821V	RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Silent_p.V811V|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Silent_p.V822V|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	821	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATCAGTATGTGAAATTTGCTG	0.363000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								9	23					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113181345	113181345	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:113181345G>A	ENST00000261965.3	-	13	1652	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S489L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	489					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAAATTTATTGATTTTCCTAT	0.358000													7	42					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292581	62292581	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62292581G>T	ENST00000378024.4	-	5	9582	c.9308C>A	c.(9307-9309)cCc>cAc	p.P3103H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3103					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCACTTTGGGACCTTTCAG	0.453000													95	230					6.09681e-45	6.64302e-45	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77611801	77611801	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:77611801G>A	ENST00000461745.1	+	10	2337		c.e10-1		ROBO2_ENST00000332191.8_Splice_Site|ROBO2_ENST00000487694.3_Splice_Site	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCACACTAGATTTCTGATA	0.383000													8	18					0	0	1	0	0
ZNF69	7620	broad.mit.edu	37	19	12014495	12014495	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:12014495C>T	ENST00000429654.2	+	2	311	c.171C>T	c.(169-171)ttC>ttT	p.F57F	ZNF69_ENST00000340180.5_Silent_p.F43F			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	57	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		TGGAAACTTTCAGGAACCTGA	0.453000													31	66					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	837264	837264	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:837264C>T	ENST00000397420.3	+	6	615	c.366C>T	c.(364-366)ctC>ctT	p.L122L	CD151_ENST00000322008.4_Silent_p.L122L|CD151_ENST00000528011.1_Silent_p.L122L|CD151_ENST00000397421.1_Silent_p.L122L			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	122					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACACGGAGCTCAAGGAGAACC	0.632000													22	78					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101103593	101103593	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:101103593G>A	ENST00000369162.2	-	17	3149	c.2805C>T	c.(2803-2805)atC>atT	p.I935I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTTGTGACTGATGCCATATG	0.348000													17	35					0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72353677	72353677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:72353677C>A	ENST00000375366.3	-	3	682	c.556G>T	c.(556-558)Gag>Tag	p.E186*		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	186	BACK.					extracellular region				endometrium(1)|kidney(1)|lung(4)	6						AGGCAGCTCTCGCGCAGGGCC	0.751000													5	9					8.12818e-05	8.27067e-05	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41303893	41303893	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:41303893G>C	ENST00000551295.2	+	3	197	c.80G>C	c.(79-81)aGa>aCa	p.R27T	CNTN1_ENST00000347616.1_Missense_Mutation_p.R27T|CNTN1_ENST00000547702.1_Missense_Mutation_p.R27T|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000547849.1_Missense_Mutation_p.R27T|CNTN1_ENST00000360099.3_Missense_Mutation_p.R27T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	27					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGTATAGAAGATATGGTCAT	0.289000													9	28					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417242	54417242	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:54417242C>T	ENST00000245451.4	-	4	1128	c.735G>A	c.(733-735)cgG>cgA	p.R245R	BMP4_ENST00000559087.1_Silent_p.R245R|BMP4_ENST00000558984.1_Silent_p.R245R|BMP4_ENST00000417573.1_Silent_p.R245R	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	245					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCTGGTGGGTCCGAGTCTGAT	0.592000													42	88					0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100174713	100174713	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:100174713G>A	ENST00000383693.3	+	4	1760	c.480G>A	c.(478-480)agG>agA	p.R160R	LNP1_ENST00000489752.1_Silent_p.R173R	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	160										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCTCTAGGAAAGAAGAGC	0.448000													20	53					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29024922	29024922	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:29024922C>G	ENST00000524189.1	-	11	1164	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.E376Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	376					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CGGAGTTTCTCAACTTCTTCC	0.542000													8	10					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889341	23889341	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:23889341G>A	ENST00000532292.1	-	1	1834	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGGGCCCCAGAGGAACTCAT	0.498000													16	28					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23869524	23869524	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:23869524C>G	ENST00000405093.3	-	14	1592	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	MYH6_ENST00000356287.3_Missense_Mutation_p.E508Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	508	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			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)		AATGTCCACTCAATGCCCTCC	0.547000													38	90					0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20717191	20717191	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:20717191C>T	ENST00000241125.3	-	2	413	c.237G>A	c.(235-237)gcG>gcA	p.A79A		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	79					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		TGATCTGCAGCGCCCAGAAGC	0.607000													13	20					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937975	67937975	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:67937975C>T	ENST00000252336.6	+	5	1351	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	STARD8_ENST00000374597.3_Missense_Mutation_p.R327W|STARD8_ENST00000374599.3_Missense_Mutation_p.R407W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	327			R -> Q (in dbSNP:rs55962426).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCTGTGGTCTCGGGCCATGTA	0.557000													22	11					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702860	46702860	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:46702860G>A	ENST00000311956.4	-	6	616	c.519C>T	c.(517-519)ctC>ctT	p.L173L		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	173	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGGGCTTGAAGAGGATGAGCA	0.562000													48	118					0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48256253	48256253	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:48256253G>A	ENST00000371711.4	-	7	1066	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	293					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CCCAACCCCAGAAAGCATTAG	0.478000													35	115					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152346132	152346132	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:152346132C>G	ENST00000359321.1	-	3	523	c.438G>C	c.(436-438)ttG>ttC	p.L146F	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	146					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TATCCAAAATCAAAAGGCAGA	0.413000								Homologous recombination					16	48					0	0	1	0	0
AGRP	181	broad.mit.edu	37	16	67516590	67516590	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:67516590G>C	ENST00000290953.2	-	4	647	c.348C>G	c.(346-348)ttC>ttG	p.F116L	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	116	Agouti.				hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		GGCAGTAGCAGAAGGCATTGA	0.607000													32	104					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5923453	5923453	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:5923453C>T	ENST00000378156.4	-	30	4418	c.4153G>A	c.(4153-4155)Gag>Aag	p.E1385K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1385					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTAGGTCTCTCCACCCCCG	0.542000													51	143					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10694334	10694334	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:10694334G>A	ENST00000590923.1	-	3	298	c.215C>T	c.(214-216)tCg>tTg	p.S72L	AP1M2_ENST00000250244.6_Missense_Mutation_p.S72L			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	72					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGCATTCTTCGATGTGGTGGC	0.512000													44	74					0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20721872	20721872	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:20721872C>T	ENST00000454608.2	-	9	688	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	USP41_ENST00000486536.2_5'UTR					ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						ACAGTTCTCACAGAAGCATTT	0.532000													5	13					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719798	57719798	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:57719798C>G	ENST00000333493.4	+	11	1661	c.1500C>G	c.(1498-1500)ctC>ctG	p.L500L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L380L|GPR97_ENST00000327655.6_Silent_p.L290L	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	500					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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						CGTTGGGCCTCTCCACCGTCT	0.602000													31	105					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131271331	131271331	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:131271331G>A	ENST00000512055.1	-	17	3247	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	CPNE4_ENST00000429747.1_Missense_Mutation_p.S374F|CPNE4_ENST00000512332.1_Missense_Mutation_p.S392F|CPNE4_ENST00000502818.1_Missense_Mutation_p.S392F|CPNE4_ENST00000511604.1_Missense_Mutation_p.S374F			Q96A23	CPNE4_HUMAN	copine IV	374	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AAAGTCATGAGAGACCTAGAC	0.388000													18	44					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857934	111857934	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:111857934C>A	ENST00000369740.1	+	6	460	c.357C>A	c.(355-357)ttC>ttA	p.F119L	CHIA_ENST00000343320.6_Missense_Mutation_p.F119L|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.F11L|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	119					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCCAGACTTTCATCACCTCAG	0.547000													49	166					2.82306e-37	3.07336e-37	1	1	0
GMIP	51291	broad.mit.edu	37	19	19741323	19741323	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:19741323C>A	ENST00000203556.4	-	20	2633	c.2496G>T	c.(2494-2496)caG>caT	p.Q832H	GMIP_ENST00000587238.1_Missense_Mutation_p.Q806H|GMIP_ENST00000445806.2_Missense_Mutation_p.Q803H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	832					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGTCCTCTCTCTGGTCACTCT	0.552000													28	74					3.73148e-12	3.9381e-12	1	1	0
SMC5	23137	broad.mit.edu	37	9	72930480	72930480	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:72930480G>C	ENST00000361138.5	+	13	1850	c.1792G>C	c.(1792-1794)Gaa>Caa	p.E598Q		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	598	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAGACCAGAGAAAGAATTGA	0.353000													11	29					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128001231	128001231	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:128001231C>G	ENST00000324460.6	-	5	1188	c.985G>C	c.(985-987)Gag>Cag	p.E329Q		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	329					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ATGTTGAGCTCTTCAAATTTG	0.418000										Prostate(1;0.17)			14	41					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40525085	40525085	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:40525085C>T	ENST00000372797.3	+	2	628	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	CAP1_ENST00000372792.2_Missense_Mutation_p.H23Y|CAP1_ENST00000372805.3_Missense_Mutation_p.H23Y|CAP1_ENST00000372798.1_Missense_Mutation_p.H23Y|CAP1_ENST00000340450.3_Missense_Mutation_p.H23Y|CAP1_ENST00000372802.1_Missense_Mutation_p.H23Y	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	23					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCAGTATCTCATACCTCTGA	0.493000													13	49					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37324849	37324849	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:37324849C>T	ENST00000373091.3	-	7	980	c.964G>A	c.(964-966)Gat>Aat	p.D322N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D322N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	322					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGGCTGCATCAGTCTGCAGG	0.632000													31	128					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81411163	81411163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:81411163C>T	ENST00000568107.2	+	11	1918	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTGCAGCTTCAGCAAGGCTT	0.527000													52	155					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156556371	156556371	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:156556371G>C	ENST00000353442.5	-	6	778	c.542C>G	c.(541-543)tCt>tGt	p.S181C	LMBR1_ENST00000359422.4_Missense_Mutation_p.S29C|LMBR1_ENST00000540390.1_Missense_Mutation_p.S160C|LMBR1_ENST00000354505.4_Missense_Mutation_p.S181C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ACCATATAAAGATTCCATGCT	0.363000													17	38					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18066584	18066584	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:18066584C>G	ENST00000205890.5	+	59	9977	c.9639C>G	c.(9637-9639)ctC>ctG	p.L3213L	MYO15A_ENST00000418233.3_Silent_p.L477L|MYO15A_ENST00000451725.2_Silent_p.L105L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3213	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAGGCAACTCTTTCTTCTTC	0.552000													57	123					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029388	17029388	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:17029388C>T	ENST00000492551.1	-	0	977					NR_026567.1																						gCTTCCCAATCGTGCCCCAAG	0.657000													5	19					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56757113	56757113	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:56757113C>A	ENST00000267460.4	+	5	921	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	212					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CGCGAGATCTCTGTCTGTGGA	0.582000													47	136					1.89013e-27	2.05072e-27	1	1	0
ANKRD42	338699	broad.mit.edu	37	11	82924037	82924037	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:82924037C>G	ENST00000526731.1	+	6	1025	c.603C>G	c.(601-603)ctC>ctG	p.L201L	RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000533342.1_Intron|ANKRD42_ENST00000531895.1_Intron|ANKRD42_ENST00000393389.3_3'UTR|ANKRD42_ENST00000260047.6_Intron			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCCATCTCCTCCTCAGCATCA	0.433000													12	21					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000436	41000436	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:41000436C>G	ENST00000399564.4	-	39	4818	c.4368G>C	c.(4366-4368)ttG>ttC	p.L1456F	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1011F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCAGACCATCAAGACATCAC	0.483000													14	27					0	0	1	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200015	26200015	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:26200015G>A	ENST00000359985.1	+	1	268	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77K(3)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CATCGCTGGCGAGGCTTCCCG	0.612000													68	174					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903269	76903269	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:76903269C>T	ENST00000409709.3	+	31	4370	c.4098C>T	c.(4096-4098)ctC>ctT	p.L1366L	MYO7A_ENST00000409619.2_Silent_p.L1355L|MYO7A_ENST00000458637.2_Silent_p.L1366L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1366	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACCAACCTCATCTACCAGC	0.627000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	99					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96829297	96829297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:96829297G>T	ENST00000359933.4	-	1	910	c.17C>A	c.(16-18)tCg>tAg	p.S6*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	6										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATGGACTCCGAAAACGGCCA	0.662000													33	113					2.09667e-21	2.25944e-21	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63092028	63092028	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:63092028G>A	ENST00000263991.5	+	10	1507	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	EHBP1_ENST00000405015.3_Missense_Mutation_p.R307K|EHBP1_ENST00000405289.1_Missense_Mutation_p.R307K|EHBP1_ENST00000431489.1_Missense_Mutation_p.R307K|EHBP1_ENST00000354487.3_Missense_Mutation_p.R307K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	342				R -> G (in Ref. 2; AAQ97141 and 3; CAD38814).		cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCTACAAAAAGAAAAAATATA	0.383000													19	49					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505311	24505311	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:24505311G>A	ENST00000264463.4	-	8	1810	c.1303C>T	c.(1303-1305)Cat>Tat	p.H435Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	435	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTCCTGAATGAATGTTAAAG	0.373000										HNSCC(23;0.051)			12	15					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861101	52861101	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:52861101C>T	ENST00000343457.3	-	4	2093	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	696						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAACTCACAGCAAGTGTCAGA	0.517000													10	57					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28071219	28071219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:28071219C>T	ENST00000373954.6	+	5	511	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	FAM76A_ENST00000010299.6_Nonsense_Mutation_p.Q171*|FAM76A_ENST00000234549.7_Nonsense_Mutation_p.Q171*|FAM76A_ENST00000373949.1_Nonsense_Mutation_p.Q137*|FAM76A_ENST00000419687.2_Nonsense_Mutation_p.Q86*|FAM76A_ENST00000530324.1_Nonsense_Mutation_p.Q137*	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	137										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGGTCCTTCAGAAGACCAA	0.488000													28	66					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19492957	19492957	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:19492957G>A	ENST00000407835.1	+	11	1033	c.777G>A	c.(775-777)gaG>gaA	p.E259E	CDC45_ENST00000263201.1_Silent_p.E259E|CDC45_ENST00000404724.3_Silent_p.E213E|CDC45_ENST00000437685.2_Silent_p.E291E			O75419	CDC45_HUMAN	cell division cycle 45	259					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ACGAGGATGAGGAGAACACAC	0.562000													6	39					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68470887	68470887	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:68470887C>G	ENST00000256442.5	+	6	1142	c.889C>G	c.(889-891)Ctg>Gtg	p.L297V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAACTTTGGTCTGGGTCGGCC	0.433000													38	52					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120197788	120197788	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:120197788C>T	ENST00000019103.5	-	13	1495	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	410					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGTGGGAACTCACGGAGGTGC	0.627000													13	40					0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50189926	50189926	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:50189926G>A	ENST00000532489.1	+	10	1343	c.837G>A	c.(835-837)gtG>gtA	p.V279V	PRMT1_ENST00000454376.2_Silent_p.V325V|PRMT1_ENST00000391851.4_Silent_p.V307V			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	306						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACCTGACCGTGAAGACGGGCG	0.687000													19	56					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75316863	75316863	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:75316863C>T	ENST00000434603.2	-	3	1370	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	MAP6_ENST00000304771.3_Missense_Mutation_p.E436K|MAP6_ENST00000526740.1_Missense_Mutation_p.E107K	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	436						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCTTTCGCCTCAGCCAGTTTA	0.483000													42	100					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84610162	84610162	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:84610162G>A	ENST00000370685.3	+	1	209	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRKACB_ENST00000370688.3_Intron|PRKACB_ENST00000370689.2_Intron|PRKACB_ENST00000470673.1_3'UTR	NM_001242862.1|NM_182948.2	NP_001229791.1|NP_891993.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	0					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TACTGCACATGATCAGAAAAC	0.373000													31	41					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:1940449C>A	ENST00000543818.1	+	4	1258	c.416C>A	c.(415-417)tCg>tAg	p.S139*	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Nonsense_Mutation_p.S139*|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Nonsense_Mutation_p.S139*|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652000													27	84					1.38267e-23	1.4938e-23	1	1	0
SLTM	79811	broad.mit.edu	37	15	59181706	59181706	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:59181706G>A	ENST00000380516.2	-	16	2214	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	SLTM_ENST00000536328.1_Silent_p.L278L	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	709	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTGCCTTCTGAGTTCCTCTC	0.403000													10	33					0	0	1	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58201601	58201601	+	Silent	SNP	G	G	A	rs145261377		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:58201601G>A	ENST00000262506.3	-	7	795	c.612C>T	c.(610-612)ctC>ctT	p.L204L	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	204	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GATAGTCCACGAGGAGCTCTG	0.448000													24	54					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50789403	50789403	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:50789403C>T	ENST00000433963.1	+	19	3513	c.3013C>T	c.(3013-3015)Cct>Tct	p.P1005S	USP8_ENST00000307179.4_Missense_Mutation_p.P1005S|USP8_ENST00000425032.3_Missense_Mutation_p.P899S|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000396444.3_Missense_Mutation_p.P1005S			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1005					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAAGTTACCACCTGTGCTTTT	0.368000													28	57					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24110718	24110718	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:24110718C>G	ENST00000238789.5	-	4	899	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	186							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAGTTGATCAAATAACAAA	0.318000													22	64					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74192240	74192240	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:74192240G>C	ENST00000498286.1	+	9	1811	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	MTO1_ENST00000415954.2_Missense_Mutation_p.E552Q|MTO1_ENST00000370305.1_Missense_Mutation_p.E463Q|MTO1_ENST00000370300.4_Missense_Mutation_p.E537Q			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	537					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GTCTTCTTTAGAAGAAGGCAT	0.383000													6	24					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98312796	98312796	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:98312796G>A	ENST00000371142.4	-	6	897	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	227						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGAAGGAGTTGAAAATTGAAA	0.343000													4	13					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901021	40901021	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:40901021G>A	ENST00000324001.7	-	7	3508	c.3238C>T	c.(3238-3240)Cgt>Tgt	p.R1080C	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1080					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTGGCACGATCACCTTGA	0.632000													34	52					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66850901	66850901	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:66850901C>G	ENST00000379463.2	-	11	889	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	NAE1_ENST00000359087.4_Missense_Mutation_p.E242Q|NAE1_ENST00000394074.2_Missense_Mutation_p.E150Q|NAE1_ENST00000290810.3_Missense_Mutation_p.E239Q	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	239					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCCTCTTTTTCTTTATACGTT	0.274000													8	25					0	0	1	0	0
FAM43A	131583	broad.mit.edu	37	3	194407595	194407595	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:194407595G>A	ENST00000329759.4	+	1	974	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	14										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GCTGCTGGCCGAGGCGCCGCC	0.761000													18	28					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569040	11569040	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:11569040G>C	ENST00000359227.3	-	5	973	c.549C>G	c.(547-549)atC>atG	p.I183M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.I183M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	183	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGTCCTTTGATAGCCTCTT	0.602000													38	62					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917088	45917088	+	Silent	SNP	G	G	A	rs151203192		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:45917088G>A	ENST00000185206.6	-	3	833	c.681C>T	c.(679-681)ccC>ccT	p.P227P	CLIC5_ENST00000339561.6_Silent_p.P68P|CLIC5_ENST00000544153.1_Silent_p.P68P	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	227					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGTGCGTGCCGGGGGCTAGGT	0.542000													41	115					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50100969	50100969	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:50100969C>G	ENST00000418929.2	+	4	3389	c.3377C>G	c.(3376-3378)tCc>tGc	p.S1126C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	305							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GACCTGGTCTCCAGCTGCCGC	0.701000													7	16					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114899738	114899738	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:114899738C>T	ENST00000315366.7	-	1	1119	c.253G>A	c.(253-255)Gat>Aat	p.D85N	ARSJ_ENST00000541197.1_Missense_Mutation_p.D85N|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	85						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AATCCCTGATCATCCGCTAGG	0.488000													14	44					0	0	1	0	0
C6orf120	387263	broad.mit.edu	37	6	170102739	170102739	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:170102739G>A	ENST00000332290.2	+	1	483	c.184G>A	c.(184-186)Gag>Aag	p.E62K	C6orf120_ENST00000439249.1_Missense_Mutation_p.E81K	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	62						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GCTGAACCACGAGGGCAAGAT	0.647000													6	24					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46509458	46509458	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:46509458G>C	ENST00000262741.5	-	10	1962	c.1273C>G	c.(1273-1275)Ctg>Gtg	p.L425V	PIK3R3_ENST00000354242.4_Missense_Mutation_p.L366V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L366V|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L425V|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L425V|PIK3R3_ENST00000340332.6_Missense_Mutation_p.L330V|PIK3R3_ENST00000540385.1_Missense_Mutation_p.L471V	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	425	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AGCTCCTTCAGAGAGCTGTAC	0.547000													10	32					0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99901155	99901155	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:99901155C>T	ENST00000409448.1	-	7	778	c.462G>A	c.(460-462)ctG>ctA	p.L154L	LYG1_ENST00000308528.4_Silent_p.L154L			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	154					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						ACGTACCTCTCAGGTACTGGT	0.458000													19	52					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150956	247150956	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:247150956C>G	ENST00000339986.7	-	4	1008	c.861G>C	c.(859-861)aaG>aaC	p.K287N	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	287					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			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)			TATGAATTTTCTTATGTTTAG	0.353000													9	14					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100071904	100071904	+	Missense_Mutation	SNP	C	C	A	rs151058099		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:100071904C>A	ENST00000300181.2	-	3	1676	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	TSC22D4_ENST00000393991.1_Missense_Mutation_p.D69Y|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	308					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACCTATCATCGTCGCTGTCT	0.597000													25	48					4.22769e-11	4.42522e-11	1	1	0
PAQR3	152559	broad.mit.edu	37	4	79847863	79847863	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:79847863G>C	ENST00000512733.1	-	4	727	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	PAQR3_ENST00000380645.4_Missense_Mutation_p.Q172E|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	172						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AAGTACACCTGACGCCAGTAC	0.388000													44	74					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185897700	185897700	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:185897700G>C	ENST00000271588.4	+	10	1682	c.1453G>C	c.(1453-1455)Gat>Cat	p.D485H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D485H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	485	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGAACTTAGATATTGCAAA	0.378000													23	51					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85486794	85486794	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:85486794G>A	ENST00000370589.2	-	12	1538	c.1486C>T	c.(1486-1488)Ctt>Ttt	p.L496F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.L440F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	496						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GCAATGAAAAGACTTAAAATC	0.338000													14	15					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119059249	119059249	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:119059249C>T	ENST00000371410.3	-	9	1348	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	394	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GAATCTTGTTCTCTCTCTTTC	0.418000													23	26					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1328173	1328173	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:1328173C>G	ENST00000408918.4	-	6	680	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	CCNL2_ENST00000400809.3_Intron|CCNL2_ENST00000408952.5_5'UTR	NM_001039577.3	NP_001034666.1	Q96S94	CCNL2_HUMAN	cyclin L2	0	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACTTACCCTCAGAGGCTACC	0.458000													11	6					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189889	7189889	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:7189889G>A	ENST00000317370.8	+	11	1739	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	491					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTCTCTTTTAGAGCAGGAGGT	0.557000													134	300					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70549669	70549669	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:70549669G>C	ENST00000265872.6	+	24	3509	c.3390G>C	c.(3388-3390)aaG>aaC	p.K1130N	CCAR1_ENST00000543719.1_Missense_Mutation_p.K1115N|CCAR1_ENST00000535016.1_Missense_Mutation_p.K1115N	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1130					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTGTTCTCAAGAAGGTGAGAA	0.264000													18	11					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53381463	53381463	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:53381463C>G	ENST00000607628.1	-	1	191	c.82G>C	c.(82-84)Gac>Cac	p.D28H	DCP1A_ENST00000294241.6_Missense_Mutation_p.D28H|DCP1A_ENST00000606822.1_Missense_Mutation_p.D28H|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	28					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CCCGTGAGGTCTGCGATGCTG	0.647000													11	40					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192731	203192731	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:203192731G>C	ENST00000367229.1	-	5	406	c.372C>G	c.(370-372)atC>atG	p.I124M	CHIT1_ENST00000535569.1_Missense_Mutation_p.I115M|CHIT1_ENST00000255427.3_Missense_Mutation_p.I105M|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	124					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCAGAAACCTGATGGCCGAGT	0.572000													58	116					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916862	97916862	+	RNA	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:97916862C>G	ENST00000534948.1	+	0	1640							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTACTTTTCCCTTCACTTGTC	0.348000													13	16					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447515	74447515	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:74447515C>A	ENST00000339953.5	-	4	637	c.516G>T	c.(514-516)caG>caT	p.Q172H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	172	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTATCGCTGTCTGGCCTGCAG	0.602000													31	147					6.70999e-13	7.10502e-13	1	1	0
C4BPB	725	broad.mit.edu	37	1	207273176	207273176	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:207273176A>T	ENST00000243611.5	+	6	955	c.661A>T	c.(661-663)Aac>Tac	p.N221Y	C4BPB_ENST00000367078.3_Missense_Mutation_p.N221Y|C4BPB_ENST00000391923.1_Missense_Mutation_p.N221Y|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000367076.3_Missense_Mutation_p.N220Y	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	221					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AGCCATGGAGAACTTTATGCA	0.393000													25	42					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34035133	34035133	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:34035133C>T	ENST00000373381.4	-	52	8148	c.7972G>A	c.(7972-7974)Gag>Aag	p.E2658K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2660	Sushi 17.					integral to membrane|plasma membrane	protein binding			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)				ATCGGGAGCTCTCCACAGGAG	0.527000													6	41					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21658779	21658779	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:21658779G>A	ENST00000328843.6	+	24	4362	c.4331G>A	c.(4330-4332)aGa>aAa	p.R1444K	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.R1439K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1444	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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						CGGTTACACAGAGTGGAAGAT	0.438000									Kartagener syndrome				7	23					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183559431	183559431	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:183559431C>T	ENST00000413720.1	-	1	308	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	NCF2_ENST00000367536.1_Missense_Mutation_p.E12K|NCF2_ENST00000367535.3_Missense_Mutation_p.E12K|NCF2_ENST00000418089.1_Missense_Mutation_p.E12K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	12					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AGCACCCCTTCATTCCAGAGG	0.577000													43	70					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341673	157341673	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:157341673C>T	ENST00000389413.3	-	21	2959	c.2856G>A	c.(2854-2856)ttG>ttA	p.L952L	PTPRN2_ENST00000409483.1_Silent_p.L943L|PTPRN2_ENST00000389418.4_Silent_p.L981L|PTPRN2_ENST00000389416.4_Silent_p.L964L|PTPRN2_ENST00000404321.2_Silent_p.L1004L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	981	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTGGTCCCTCAAGTGCTCCA	0.547000													25	78					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145730208	145730208	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:145730208G>A	ENST00000394955.2	+	3	530	c.307G>A	c.(307-309)Gat>Aat	p.D103N	GPT_ENST00000528431.1_Missense_Mutation_p.D103N	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	103					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTCCCTGACGATGCCAAGAA	0.647000													129	333					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934814	119934814	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:119934814G>T	ENST00000361035.4	+	7	1175	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	HAO2_ENST00000325945.3_Missense_Mutation_p.D285Y			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	285	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AACTGGCAATGATGTGCTGAA	0.502000													24	58					4.7796e-09	4.97032e-09	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63174348	63174348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:63174348G>A	ENST00000322893.7	-	11	3113	c.2845C>T	c.(2845-2847)Cag>Tag	p.Q949*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	949					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATGAGGCCTGGGGTACGCTT	0.473000													62	124					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197863665	197863665	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:197863665C>T	ENST00000328737.2	-	24	2632	c.2556G>A	c.(2554-2556)atG>atA	p.M852I	ANKRD44_ENST00000450567.1_Missense_Mutation_p.M852I|ANKRD44_ENST00000282272.8_Missense_Mutation_p.M869I|ANKRD44_ENST00000337207.5_Missense_Mutation_p.M852I			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	877							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGCAGCCATCATCAGTGCTG	0.478000													14	50					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16963895	16963895	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:16963895C>T	ENST00000379803.1	+	7	879	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	SIN3B_ENST00000596802.1_Missense_Mutation_p.R289C|SIN3B_ENST00000248054.5_Missense_Mutation_p.R289C	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	289	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.R289C(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGAAACTTCGTGGTACCAA	0.512000													21	53					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45887429	45887429	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:45887429G>A	ENST00000372086.3	-	3	712	c.312C>T	c.(310-312)ctC>ctT	p.L104L	TESK2_ENST00000372084.1_Silent_p.L104L|TESK2_ENST00000341771.6_Silent_p.L104L|TESK2_ENST00000451835.2_Silent_p.L104L|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Silent_p.L21L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	104	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTCTATTCATGAGCTGTACTT	0.433000													45	91					0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482676	69482676	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:69482676C>T	ENST00000279147.4	-	4	439	c.332G>A	c.(331-333)gGa>gAa	p.G111E	ORAOV1_ENST00000535657.1_Missense_Mutation_p.G111E|ORAOV1_ENST00000536870.1_Missense_Mutation_p.G52E|ORAOV1_ENST00000539414.1_Missense_Mutation_p.G111E	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	111										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TTTAAATTTTCCTCTGATCTT	0.498000													19	21					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51483924	51483924	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:51483924G>C	ENST00000371117.3	-	67	12455	c.12180C>G	c.(12178-12180)ttC>ttG	p.F4060L	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4060					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			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)					AATGAAGGCAGAATGCCTCAG	0.537000													33	41					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12208791	12208791	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:12208791G>C	ENST00000432424.2	+	0	1210							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCTGGAGCAGATTGCCATGT	0.517000													5	17					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64514755	64514755	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:64514755C>G	ENST00000358025.3	+	46	7489	c.7259C>G	c.(7258-7260)tCt>tGt	p.S2420C	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S2420C|SYNE2_ENST00000554584.1_Missense_Mutation_p.S2453C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2420					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAACTTTCTCTTAATGCT	0.308000													6	29					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42909686	42909686	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:42909686G>C	ENST00000244289.4	-	8	2669	c.2393C>G	c.(2392-2394)tCa>tGa	p.S798*	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	798					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTCTGGTCTGAGTTGGAGTG	0.582000													24	57					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276372	63276372	+	Missense_Mutation	SNP	G	G	A	rs151129208	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:63276372G>A	ENST00000415491.2	+	2	778	c.164G>A	c.(163-165)cGc>cAc	p.R55H	LGALS12_ENST00000255684.5_Missense_Mutation_p.R116H|LGALS12_ENST00000340246.5_Missense_Mutation_p.R117H|LGALS12_ENST00000394618.3_Missense_Mutation_p.R116H|LGALS12_ENST00000425950.2_Missense_Mutation_p.R55H	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	116	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CATGGTGGACGCTGGCAAAGG	0.602000													32	67					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35783680	35783680	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:35783680G>C	ENST00000394395.2	+	3	270	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	TADA2A_ENST00000417170.1_Missense_Mutation_p.E33Q|TADA2A_ENST00000225396.6_Missense_Mutation_p.E33Q|TADA2A_ENST00000586023.1_Missense_Mutation_p.E33Q	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	33	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CAAGTGTGCTGAATGTGGGCC	0.433000													41	83					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773565	145773565	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:145773565G>T	ENST00000276826.5	-	4	1106	c.905C>A	c.(904-906)tCc>tAc	p.S302Y	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S302Y|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S302Y			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	302	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCGCGGGGAGGAGGGCTGCGA	0.682000													21	37					1.50039e-11	1.57566e-11	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53577926	53577926	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:53577926G>C	ENST00000342160.3	-	64	9778	c.9321C>G	c.(9319-9321)ctC>ctG	p.L3107L	HUWE1_ENST00000262854.6_Silent_p.L3107L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3107					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCATGCATGAGCTGTCGCT	0.577000													21	16					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139815555	139815555	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:139815555C>T	ENST00000359662.3	+	9	1227	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	TRAF2_ENST00000247668.2_Silent_p.V342V|TRAF2_ENST00000536468.1_Silent_p.V342V			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	342	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		AGCAGAAGGTCTTGGAGATGG	0.602000													21	39					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949332	7949332	+	Missense_Mutation	SNP	C	C	T	rs143603778		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:7949332C>T	ENST00000309838.2	-	1	877	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(2)		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)		CTCACTATTTCGCAAACTGTA	0.418000													20	70					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33269508	33269508	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:33269508G>C	ENST00000314144.5	-	7	995	c.880C>G	c.(880-882)Caa>Gaa	p.Q294E	CCT6B_ENST00000436961.3_Missense_Mutation_p.Q249E|CCT6B_ENST00000421975.3_Missense_Mutation_p.Q257E	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	294					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CTCACCTTTTGATTAATGACG	0.318000													4	15					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4446075	4446075	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:4446075C>T	ENST00000301281.6	-	10	1295	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E338K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	391	UBX.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCCAGGTTCTCGTCCTCGGAC	0.682000													34	81					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619163	52619163	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:52619163G>A	ENST00000600228.1	-	4	1515	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AACGTTTACTGAAGACCTTGC	0.408000													34	86					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432500	10432500	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:10432500C>T	ENST00000245503.5	-	26	3717	c.3333G>A	c.(3331-3333)caG>caA	p.Q1111Q	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.Q1111Q|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1111					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TAATTTTCTTCTGCAATTGAA	0.368000													12	26					0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50386853	50386853	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:50386853C>T	ENST00000232501.3	-	4	850	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	138					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GCATTTAGCTCCTCCAGCAAG	0.557000													20	43					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883545	52883545	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:52883545G>C	ENST00000343457.3	-	1	241	c.235C>G	c.(235-237)Cac>Gac	p.H79D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	79						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTCGTGTGAGACTGTAAG	0.363000													4	33					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319520	78319520	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:78319520C>G	ENST00000582970.1	+	29	7528	c.7385C>G	c.(7384-7386)tCc>tGc	p.S2462C	RNF213_ENST00000508628.2_Missense_Mutation_p.S2511C|RNF213_ENST00000336301.6_Missense_Mutation_p.S535C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGATCTACTCCAGAGTCAGG	0.478000													33	75					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17732668	17732668	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:17732668C>G	ENST00000428389.2	-	38	4478	c.4479G>C	c.(4477-4479)ttG>ttC	p.L1493F	UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000252773.7_Missense_Mutation_p.L1405F|UNC13A_ENST00000519716.2_Missense_Mutation_p.L1405F|UNC13A_ENST00000551649.1_Missense_Mutation_p.L1405F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1405	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATGTTTTCTCAAGAGGTTCC	0.537000													30	69					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58080568	58080568	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:58080568G>A	ENST00000357272.4	+	5	958	c.793G>A	c.(793-795)Gag>Aag	p.E265K	FLNB_ENST00000348383.5_Missense_Mutation_p.E265K|FLNB_ENST00000490882.1_Missense_Mutation_p.E265K|FLNB_ENST00000493452.1_Missense_Mutation_p.E96K|FLNB_ENST00000358537.3_Missense_Mutation_p.E265K|FLNB_ENST00000429972.2_Missense_Mutation_p.E265K|FLNB_ENST00000295956.4_Missense_Mutation_p.E265K|FLNB_ENST00000419752.2_Missense_Mutation_p.E96K			O75369	FLNB_HUMAN	filamin B, beta	265					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGCAGGAATCGAGCCCACTGG	0.552000													73	159					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119460240	119460240	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:119460240G>C	ENST00000450136.1	+	2	380	c.219G>C	c.(217-219)ttG>ttC	p.L73F	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.L73F|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	73					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TAACCAGCTTGACCCAGCTGA	0.562000													21	60					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477563	10477563	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:10477563G>C	ENST00000538557.1	+	10	1311	c.1067G>C	c.(1066-1068)aGa>aCa	p.R356T	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000270776.8_Missense_Mutation_p.R369T|PGD_ENST00000541529.1_Missense_Mutation_p.R347T			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	369					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGCATCATTAGAAGGTAAGTG	0.557000													27	46					0	0	1	0	0
B9D2	80776	broad.mit.edu	37	19	41863866	41863866	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:41863866C>G	ENST00000243578.3	-	3	369	c.150G>C	c.(148-150)caG>caC	p.Q50H	TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000604123.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	50	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						TGTCCCCTATCTGCGGGGTGT	0.642000													24	58					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49219014	49219014	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:49219014G>A	ENST00000301050.2	+	7	760	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CACNB3_ENST00000540990.1_Silent_p.L174L|CACNB3_ENST00000547230.1_Silent_p.L146L|CACNB3_ENST00000547392.1_Intron|CACNB3_ENST00000536187.2_Silent_p.L186L	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	187					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GACCCTCTCTGAAAGGTTATG	0.562000													17	24					0	0	1	0	0
IER2	9592	broad.mit.edu	37	19	13264012	13264012	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:13264012G>A	ENST00000588173.1	+	1	1224	c.12G>A	c.(10-12)caG>caA	p.Q4Q	CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000292433.3_Silent_p.Q4Q|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000587885.1_Silent_p.Q4Q			Q9BTL4	IER2_HUMAN	immediate early response 2	4										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGAAGTGCAGAAAGAGGCAC	0.667000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103117	168103117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:168103117G>T	ENST00000409195.1	+	9	5304	c.5215G>T	c.(5215-5217)Gag>Tag	p.E1739*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1739*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1517*|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1564					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGATGCCTCTGAGAGAGGAAA	0.368000													11	35					3.86212e-05	3.93924e-05	1	1	0
WASF1	8936	broad.mit.edu	37	6	110423400	110423400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:110423400C>A	ENST00000392589.1	-	10	1749	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	WASF1_ENST00000392588.1_Nonsense_Mutation_p.E305*|WASF1_ENST00000392587.2_Nonsense_Mutation_p.E305*|WASF1_ENST00000359451.2_Nonsense_Mutation_p.E305*|WASF1_ENST00000392586.1_Nonsense_Mutation_p.E305*	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	305					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGCGATTTTCTATCAAACCT	0.438000													34	97					6.99958e-10	7.29075e-10	1	1	0
FMO1	2326	broad.mit.edu	37	1	171249990	171249990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:171249990G>A	ENST00000354841.4	+	5	824	c.693G>A	c.(691-693)tgG>tgA	p.W231*	FMO1_ENST00000402921.2_Nonsense_Mutation_p.W168*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.W231*|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	231					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTACCCATGGGACATGGTGT	0.498000													26	60					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023536	67023536	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:67023536G>C	ENST00000340001.4	-	14	2057	c.1846C>G	c.(1846-1848)Caa>Gaa	p.Q616E	ABCA9_ENST00000370732.2_Missense_Mutation_p.Q616E|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q616E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	616	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			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)					CTTAAGTTTTGAGCAAGGATG	0.318000													6	17					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51855718	51855718	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:51855718C>T	ENST00000581310.1	-	8	851	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	STARD6_ENST00000307844.3_Splice_Site_p.E160K|STARD6_ENST00000580990.2_Intron			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	160	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AACACTTACTCTTCCATTGGT	0.348000													36	115					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109472432	109472432	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:109472432G>A	ENST00000406462.2	+	16	2698	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K	CLCC1_ENST00000369969.2_3'UTR|CLCC1_ENST00000415331.1_3'UTR|CLCC1_ENST00000369968.2_3'UTR|CLCC1_ENST00000369971.2_3'UTR|GPSM2_ENST00000264126.3_Missense_Mutation_p.R642K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_3'UTR			P81274	GPSM2_HUMAN	G-protein signaling modulator 2		GoLoco 4.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CAGGGAAAGAGAATGGATGAA	0.403000													11	31					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102159935	102159935	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:102159935C>T	ENST00000299314.7	-	12	1808	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	516					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAGAACTTATCAGCGAGCCAG	0.483000													50	122					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101591930	101591930	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:101591930G>A	ENST00000284395.5	+	25	3845	c.3445G>A	c.(3445-3447)Gag>Aag	p.E1149K	LRRK1_ENST00000388948.3_Missense_Mutation_p.E1152K|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1152					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACAGCCACAGAGAGCGACGG	0.627000													16	48					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5208373	5208373	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:5208373G>C	ENST00000372412.4	-	36	5753	c.5520C>G	c.(5518-5520)ttC>ttG	p.F1840L	PTPRS_ENST00000357368.4_Missense_Mutation_p.F1839L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1819L|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1801L|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1392L|PTPRS_ENST00000587303.1_Missense_Mutation_p.F1839L|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1801L|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1392L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1839	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGTGAACTGGAACTGCCGGA	0.567000													8	27					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38857397	38857397	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:38857397C>T	ENST00000264651.2	-	3	906	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	284	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCTACCTCCTCGTGGTTCTTC	0.473000													22	60					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155255061	155255061	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:155255061G>C	ENST00000368358.3	+	5	1203	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	399						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGTTCGATGAGGAAAGCAT	0.627000													25	73					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359969	49359969	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:49359969C>T	ENST00000301061.4	-	5	1427	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	360					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GCGCTCAACTCGTGTCTGCCG	0.612000													19	44					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108135694	108135694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:108135694C>A	ENST00000273353.3	-	30	4029	c.3973G>T	c.(3973-3975)Gaa>Taa	p.E1325*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1325						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCAGGTCTTCAATCTGCCGA	0.408000													16	50					5.03518e-11	5.26612e-11	1	1	0
WDPCP	51057	broad.mit.edu	37	2	63631226	63631226	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:63631226G>C	ENST00000409120.1	-	4	4366	c.816C>G	c.(814-816)ctC>ctG	p.L272L	WDPCP_ENST00000409199.1_Silent_p.L272L|WDPCP_ENST00000398544.3_Silent_p.L305L|WDPCP_ENST00000409562.3_Silent_p.L464L|WDPCP_ENST00000272321.7_Silent_p.L464L|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	464					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TTTCAAACCTGAGGAAGAGGA	0.388000													23	49					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406333	38406333	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:38406333C>T	ENST00000322350.5	+	7	1164	c.818C>T	c.(817-819)tCc>tTc	p.S273F	EGFLAM_ENST00000354891.3_Missense_Mutation_p.S273F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S39F|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	273						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGGATATTTCCTTTGAGGAG	0.443000													10	34					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199353	89199353	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:89199353C>A	ENST00000608933.1	-	2	772	c.383G>T	c.(382-384)gGa>gTa	p.G128V	PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000514204.1_Missense_Mutation_p.G128V|PPM1K_ENST00000295908.7_Missense_Mutation_p.G128V|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000315194.4_Missense_Mutation_p.G128V	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		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)		TCCACCGTGTCCATCATACAC	0.468000													5	27					5.9392e-07	6.13125e-07	1	1	0
HIPK2	28996	broad.mit.edu	37	7	139416669	139416669	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:139416669C>T	ENST00000406875.3	-	2	259	c.165G>A	c.(163-165)aaG>aaA	p.K55K	HIPK2_ENST00000428878.2_Silent_p.K55K|HIPK2_ENST00000342645.6_Silent_p.K55K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	55					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGGGATGTTCTTGCTCTGGC	0.547000													12	23					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24808841	24808841	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:24808841G>C	ENST00000395799.3	+	10	3721	c.3592G>C	c.(3592-3594)Gaa>Caa	p.E1198Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1198Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1198	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAAACAAGAAGAAGCGTGGAT	0.363000													9	13					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130808	34130808	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:34130808C>T	ENST00000389232.4	+	89	12697	c.12627C>T	c.(12625-12627)atC>atT	p.I4209I	RYR3_ENST00000415757.3_Silent_p.I4204I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4209					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTTCAGATCCTCTGGAGCA	0.527000													19	23					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425545	49425545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:49425545G>A	ENST00000301067.7	-	39	12942	c.12943C>T	c.(12943-12945)Caa>Taa	p.Q4315*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTTGGCTCTTGAGGGCTGGAT	0.637000													10	25					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13886135	13886135	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:13886135G>C	ENST00000265104.4	-	18	2785	c.2681C>G	c.(2680-2682)tCt>tGt	p.S894C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	894	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TTCTTCTTCAGATAAAACTTC	0.333000									Kartagener syndrome				6	22					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053361	49053361	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:49053361G>C	ENST00000440857.1	-	11	1689	c.987C>G	c.(985-987)ttC>ttG	p.F329L	DALRD3_ENST00000313778.5_Intron|DALRD3_ENST00000341949.4_Intron|DALRD3_ENST00000441576.2_Intron|WDR6_ENST00000395474.3_3'UTR|WDR6_ENST00000608424.1_3'UTR|DALRD3_ENST00000395462.4_Intron			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	0					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCCAGGCCAGAATAAAGAAT	0.527000													26	56					0	0	1	0	0
TMEM30B	161291	broad.mit.edu	37	14	61747371	61747371	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:61747371G>T	ENST00000555868.1	-	1	1187	c.495C>A	c.(493-495)atC>atA	p.I165I	TMEM30B_ENST00000557163.1_5'UTR|TMEM30B_ENST00000355702.2_Silent_p.I165I	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	165						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GGCTGTTGGCGATGGCGCCGC	0.726000													5	8					0.000602214	0.00061034	1	1	0
AARS	16	broad.mit.edu	37	16	70303574	70303574	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:70303574C>T	ENST00000261772.8	-	7	1052	c.909G>A	c.(907-909)cgG>cgA	p.R303R		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	303					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CAGTGATGGTCCGAGCGTGGT	0.602000													69	188					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071845	17071845	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:17071845G>A	ENST00000359963.3	-	1	1855	c.1596C>T	c.(1594-1596)atC>atT	p.I532I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	532					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGATTCCAGATCTCCTGAT	0.448000													30	95					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857895	111857895	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:111857895C>T	ENST00000369740.1	+	6	421	c.318C>T	c.(316-318)ttC>ttT	p.F106F	CHIA_ENST00000343320.6_Silent_p.F106F|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	106					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CCCTCAGTTTCACTGCCATGG	0.512000													50	175					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185905998	185905998	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:185905998G>A	ENST00000265022.3	-	22	2627	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	DGKG_ENST00000344484.4_Silent_p.C671C|DGKG_ENST00000544847.1_Silent_p.C637C|DGKG_ENST00000382164.4_Silent_p.C657C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TACCTTGAACGCAGAATTTCA	0.527000													32	93					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43647311	43647311	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:43647311C>G	ENST00000292246.3	-	2	204	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	ANO10_ENST00000350459.4_Missense_Mutation_p.E12Q|ANO10_ENST00000451430.2_Missense_Mutation_p.E12Q|ANO10_ENST00000414522.2_Missense_Mutation_p.E12Q|ANO10_ENST00000396091.3_Missense_Mutation_p.E12Q	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	12					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAAGAACTCTCAGAAGTATCC	0.338000													11	18					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150068727	150068727	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:150068727C>T	ENST00000397281.2	+	4	886	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	REPIN1_ENST00000444957.1_Silent_p.L133L|REPIN1_ENST00000540729.1_Silent_p.L133L|REPIN1_ENST00000482680.1_3'UTR|REPIN1_ENST00000425389.2_Silent_p.L133L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.L190L|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	133					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGCCCTGGTTCTGCATCTGCG	0.637000													3	12					0	0	1	0	0
C12orf23	90488	broad.mit.edu	37	12	107360922	107360922	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:107360922G>C	ENST00000280756.4	+	3	446	c.28G>C	c.(28-30)Gaa>Caa	p.E10Q	C12orf23_ENST00000550344.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000548125.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000551489.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000551813.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000547081.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000547242.1_Missense_Mutation_p.E10Q	NM_152261.2	NP_689474.1	Q8WUH6	CL023_HUMAN	chromosome 12 open reading frame 23	10						integral to membrane				endometrium(1)|lung(2)	3						AAATCAACAAGAAATCCCATC	0.308000													10	23					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235952110	235952110	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:235952110G>C	ENST00000389794.3	-	13	4753	c.4579C>G	c.(4579-4581)Cct>Gct	p.P1527A	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.P1527A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1527					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTCACCAGGATTTATGTAC	0.398000													9	22					0	0	1	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123126094	123126094	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:123126094C>G	ENST00000368440.4	+	6	956	c.779C>G	c.(778-780)tCt>tGt	p.S260C	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S129C	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	260					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TATCTGCCATCTTCACAGAAC	0.353000													20	47					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99152287	99152287	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:99152287C>G	ENST00000409016.4	+	6	763	c.366C>G	c.(364-366)gtC>gtG	p.V122V	INPP4A_ENST00000545415.1_Silent_p.V122V|INPP4A_ENST00000074304.5_Silent_p.V122V|INPP4A_ENST00000409851.3_Silent_p.V122V|INPP4A_ENST00000409540.3_Silent_p.V122V|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Silent_p.V122V			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa		C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGTATGATGTCAAAGATAGAT	0.358000													5	10					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198697499	198697499	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:198697499C>T	ENST00000367376.2	+	16	1916	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	PTPRC_ENST00000352140.3_Missense_Mutation_p.A534V|PTPRC_ENST00000442510.2_Missense_Mutation_p.A584V|PTPRC_ENST00000348564.6_Missense_Mutation_p.A423V|PTPRC_ENST00000594404.1_Missense_Mutation_p.A421V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	582					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.A582V(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCATTTCTGGCATTTCTGATT	0.318000													13	40					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668466	10668466	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:10668466C>G	ENST00000312962.6	-	15	1502	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	KRI1_ENST00000361821.5_Missense_Mutation_p.E491Q	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	495										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)			ACGGGCTTCTCCTGCCCCACG	0.697000													14	39					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15367059	15367059	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:15367059C>T	ENST00000263377.2	-	9	1788	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	BRD4_ENST00000360016.5_Missense_Mutation_p.E523K|BRD4_ENST00000371835.4_Missense_Mutation_p.E523K|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	523					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			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)			GCAAGCTGCTCGTGCACGGCT	0.493000			T	C15orf55	lethal midline carcinoma of young people								30	105					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76567725	76567725	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:76567725C>T	ENST00000389840.5	-	4	803	c.679G>A	c.(679-681)Gag>Aag	p.E227K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E227K					dynein, axonemal, heavy chain 17											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)			AACTCGAACTCCACTTGGGGC	0.617000													28	78					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418745	135418745	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:135418745G>C	ENST00000338588.3	-	3	765	c.500C>G	c.(499-501)tCa>tGa	p.S167*	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Nonsense_Mutation_p.S167*	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	167						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCCCGGCTGTGAGGAGCGCAT	0.592000													7	22					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77808332	77808332	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:77808332C>T	ENST00000216468.7	-	6	816		c.e6-1			NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8						transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGAACGGGTTCTGCGTGAGCA	0.602000													12	28					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104378626	104378626	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:104378626C>G	ENST00000392872.3	+	8	1126	c.892C>G	c.(892-894)Cag>Gag	p.Q298E	TDG_ENST00000544861.1_Missense_Mutation_p.Q155E|TDG_ENST00000266775.9_Missense_Mutation_p.Q294E|TDG_ENST00000542036.1_Missense_Mutation_p.Q94E	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	298					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CTTAAGAGATCAGTTGAAAGG	0.408000								Base excision repair (BER), DNA glycosylases					5	74					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133851636	133851636	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:133851636G>C	ENST00000395386.2	+	18	2495	c.2196G>C	c.(2194-2196)caG>caC	p.Q732H	PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q707H|PHF20L1_ENST00000220847.7_Missense_Mutation_p.Q119H|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	732							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	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)			CTGCAGGTCAGAGGTGGAGTG	0.383000													22	57					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015893	47015893	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47015893C>G	ENST00000584895.1	-	5	357	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	RPL17_ENST00000580210.1_Missense_Mutation_p.E105Q|RPL17_ENST00000581373.1_Missense_Mutation_p.E77Q|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E77Q|RPL17_ENST00000579408.1_Missense_Mutation_p.E115Q|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000579248.1_Missense_Mutation_p.E115Q|RPL17_ENST00000418495.1_Missense_Mutation_p.E115Q|RPL17_ENST00000580261.1_Missense_Mutation_p.E115Q	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					TGGATATGCTCAATGACCAGA	0.448000													13	23					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152246	161152246	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:161152246G>C	ENST00000308192.9	+	11	1483	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	474					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGATGTAGAGACTCCTTC	0.498000													15	23					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415212	62415212	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62415212G>T	ENST00000330574.2	-	2	2392	c.2340C>A	c.(2338-2340)ctC>ctA	p.L780L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	780					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGGCTGAGGAGGCTCT	0.572000													29	85					2.36697e-06	2.43564e-06	1	1	0
IGHV1-3	28473	broad.mit.edu	37	14	106471354	106471354	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:106471354C>T	ENST00000390595.2	-	0	284																											CCTGGAACTCCTGTGAATATT	0.537000													52	159					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73753635	73753635	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:73753635G>A	ENST00000200181.3	+	40	5655	c.5468G>A	c.(5467-5469)tGa>tAa	p.*1823*	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.*1753*|ITGB4_ENST00000449880.2_Silent_p.*1806*|ITGB4_ENST00000339591.3_Silent_p.*1806*|ITGB4_ENST00000450894.3_Silent_p.*1753*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	0					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCCAAACTTGACCGCACCCT	0.652000													39	121					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142223	29142223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:29142223C>T	ENST00000377167.2	+	1	913	c.811C>T	c.(811-813)Cag>Tag	p.Q271*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTCTCCTGATCAGGGCAAGTT	0.433000													31	57					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54003679	54003679	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:54003679C>G	ENST00000396328.1	-	8	951		c.e8-1		WDR72_ENST00000557913.1_Splice_Site|WDR72_ENST00000559418.1_Splice_Site|WDR72_ENST00000360509.5_Splice_Site	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72											NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AATCATAAACCTAAAATATGA	0.338000													12	35					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284630	19284630	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:19284630G>A	ENST00000308406.5	+	4	1494	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	MAPK7_ENST00000395602.4_Missense_Mutation_p.E370K|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.E370K|MAPK7_ENST00000299612.7_Missense_Mutation_p.E231K	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	370	Necessary for oligomerization (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTTTGACCGCGAAGCCCTCAC	0.587000													17	70					0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12982559	12982559	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:12982559C>T	ENST00000262124.11	+	7	931	c.804C>T	c.(802-804)atC>atT	p.I268I	SEH1L_ENST00000592582.1_3'UTR|SEH1L_ENST00000399892.2_Silent_p.I268I	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	268					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						AGTTTGAAATCCATATAGTGG	0.383000													21	28					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12262651	12262651	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:12262651C>A	ENST00000256194.4	+	18	2567	c.2279C>A	c.(2278-2280)tCt>tAt	p.S760Y	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.S760Y|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	760						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCTGTTCACTCTTGCTGCCCC	0.592000													33	78					1.45844e-13	1.55073e-13	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20112410	20112410	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:20112410C>T	ENST00000381569.1	-	2	640	c.283G>A	c.(283-285)Ggg>Agg	p.G95R	LZTS1_ENST00000522290.1_Missense_Mutation_p.G95R|LZTS1_ENST00000265801.6_Missense_Mutation_p.G95R			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	95					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AAGTCCACCCCAGCCTGGCCC	0.587000													17	27					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													5	17					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97849204	97849204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:97849204C>T	ENST00000420699.2	+	27	2090	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.Q616*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	616										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGTGTCTCCTCAGAAACAATC	0.289000													3	5					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125176	226125176	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:226125176C>T	ENST00000366820.5	-	4	1414	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	LEFTY2_ENST00000420304.2_Missense_Mutation_p.D322N|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	356					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			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)					AGCGCCCCATCCGAGGCACAG	0.602000													21	86					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106224144	106224144	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:106224144C>T	ENST00000355610.4	-	7	1187	c.913G>A	c.(913-915)Gat>Aat	p.D305N	MORC4_ENST00000255495.7_Missense_Mutation_p.D305N|MORC4_ENST00000535534.1_Missense_Mutation_p.D53N	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	305							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTATATGTATCATATTCTACA	0.378000													15	19					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62648798	62648798	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62648798C>G	ENST00000377892.1	+	5	923	c.699C>G	c.(697-699)gtC>gtG	p.V233V	SLC3A2_ENST00000377891.2_Silent_p.V203V|SLC3A2_ENST00000535296.1_Silent_p.V171V|SLC3A2_ENST00000338663.7_Silent_p.V101V|SLC3A2_ENST00000377890.2_Silent_p.V202V|SLC3A2_ENST00000377889.2_Silent_p.V140V			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	202					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTGCCGTGGTCATAATCGTGC	0.687000											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104604	26104604	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:26104604G>A	ENST00000374332.4	+	9	1596	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	MAN1C1_ENST00000263979.3_Silent_p.E242E|MAN1C1_ENST00000374329.1_Silent_p.E193E	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	422					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGGCGATAGAGACCTACTTGC	0.592000													18	38					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101554532	101554532	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:101554532C>T	ENST00000284395.5	+	12	1822	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	LRRK1_ENST00000388948.3_Silent_p.F477F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	477					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F450F(1)|p.F477F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTCATGTTCTTGAGGTTAC	0.537000													44	99					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109472462	109472462	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:109472462G>A	ENST00000406462.2	+	16	2728	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	CLCC1_ENST00000369969.2_3'UTR|CLCC1_ENST00000415331.1_3'UTR|CLCC1_ENST00000369968.2_3'UTR|CLCC1_ENST00000369971.2_3'UTR|GPSM2_ENST00000264126.3_Missense_Mutation_p.R652K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_3'UTR			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTTTACAAAGAGATCAAAAC	0.398000													9	25					0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52186130	52186130	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:52186130G>A	ENST00000308580.7	+	6	896	c.615G>A	c.(613-615)ttG>ttA	p.L205L	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Silent_p.L205L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	205						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGTTAATTTGAATAATATAA	0.353000													23	46					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96192268	96192268	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:96192268C>G	ENST00000324765.8	+	11	1473	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q376E|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q372E|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q376E|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q376E			O60879	DIAP2_HUMAN	diaphanous-related formin 2	376	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCTTGATATTCAGTTGAAAGT	0.303000													7	4					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858903	38858903	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:38858903G>C	ENST00000339659.4	+	5	2094	c.624G>C	c.(622-624)atG>atC	p.M208I	DYRK1A_ENST00000321219.8_Missense_Mutation_p.M217I|DYRK1A_ENST00000451934.1_Missense_Mutation_p.M217I|DYRK1A_ENST00000338785.3_Missense_Mutation_p.M217I|DYRK1A_ENST00000398956.2_Missense_Mutation_p.M217I|DYRK1A_ENST00000398960.2_Missense_Mutation_p.M217I	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACACTGAAATGAAATACTACA	0.368000													11	22					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804495	21804495	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:21804495G>C	ENST00000449193.2	-	4	4509	c.2257C>G	c.(2257-2259)Caa>Gaa	p.Q753E	SKIDA1_ENST00000444772.3_Missense_Mutation_p.Q674E	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.Q753E(2)									CCCTGACTTTGAGCCAGTGGA	0.453000													55	157					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91643629	91643629	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:91643629C>G	ENST00000359028.2	+	11	3860	c.3635C>G	c.(3634-3636)tCt>tGt	p.S1212C	AKAP9_ENST00000358100.2_Missense_Mutation_p.S1212C|AKAP9_ENST00000356239.3_Missense_Mutation_p.S1200C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1212					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAATGTTCTTATTTTTTA	0.373000			T	BRAF	papillary thyroid								3	10					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155153580	155153580	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:155153580C>T	ENST00000367178.3	+	20	3443	c.2867C>T	c.(2866-2868)tCg>tTg	p.S956L	SCAF8_ENST00000417268.1_Missense_Mutation_p.S956L|SCAF8_ENST00000367186.4_Missense_Mutation_p.S1022L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	956	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCACCCCCATCGGTACTTGAT	0.493000													77	101					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150390091	150390091	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:150390091G>C	ENST00000401000.4	+	2	290	c.225G>C	c.(223-225)ttG>ttC	p.L75F	RPRD2_ENST00000539519.1_Missense_Mutation_p.L75F|RPRD2_ENST00000369067.3_Missense_Mutation_p.L75F|RPRD2_ENST00000369068.4_Missense_Mutation_p.L75F|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	75	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCACCGTTTGAATCTCTTTT	0.363000													27	80					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135649	156135649	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:156135649C>T	ENST00000329476.3	+	2	1047	c.558C>T	c.(556-558)ttC>ttT	p.F186F	NPY2R_ENST00000506608.1_Silent_p.F186F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	186					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGCCATCTTCCGGGAGTATT	0.527000													29	38					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3150277	3150277	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:3150277G>A	ENST00000263650.7	-	2	261	c.102C>T	c.(100-102)ctC>ctT	p.L34L	OSBPL5_ENST00000348039.5_Silent_p.L34L|OSBPL5_ENST00000389989.3_Silent_p.L34L|OSBPL5_ENST00000542243.1_5'UTR	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	34					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTCTCCGCTGAGGAGCAAGT	0.672000													7	10					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40319677	40319677	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:40319677C>G	ENST00000316891.5	-	3	393	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127Q|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127Q|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537223.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	127					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCAGAGATTCAATGTAATAA	0.358000													9	38					0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152981031	152981031	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:152981031G>C	ENST00000458587.2	-	4	937	c.508C>G	c.(508-510)Ctc>Gtc	p.L170V	BCAP31_ENST00000345046.6_Missense_Mutation_p.L103V|BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.L103V	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	103					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAATGTAGAGATTCCTCTGG	0.542000													57	33					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6412143	6412143	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:6412143G>A	ENST00000342245.4	+	1	483	c.315G>A	c.(313-315)ctG>ctA	p.L105L	SMPD1_ENST00000527275.1_Silent_p.L105L|SMPD1_ENST00000299397.3_Silent_p.L105L|SMPD1_ENST00000356761.2_Silent_p.L105L|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	103	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	ACCTCGGGCTGAAGGTGAGCA	0.617000													18	37					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641452	36641452	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:36641452G>C	ENST00000373448.2	-	3	1005	c.767C>G	c.(766-768)tCa>tGa	p.S256*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.S256*|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Nonsense_Mutation_p.S256*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	256							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTGGACCTTTGAGATTCTTTT	0.428000													36	90					0	0	1	0	0
FBXO6	26270	broad.mit.edu	37	1	11728998	11728998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:11728998G>T	ENST00000376753.4	+	2	418	c.283G>T	c.(283-285)Gaa>Taa	p.E95*		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	95	FBA.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	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;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGTGTGCTGAAGGTGGCAT	0.582000													25	48					7.92952e-12	8.3479e-12	1	1	0
PDPR	55066	broad.mit.edu	37	16	70172862	70172862	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:70172862G>C	ENST00000288050.4	+	11	2208	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Silent_p.L417L|PDPR_ENST00000398122.3_Silent_p.L317L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	417					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AATTGGACCTGAAACGTTTTG	0.522000													5	29					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67890862	67890862	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:67890862C>A	ENST00000370994.4	-	3	623	c.509G>T	c.(508-510)aGa>aTa	p.R170I	SERBP1_ENST00000370990.5_Missense_Mutation_p.R170I|SERBP1_ENST00000361219.6_Missense_Mutation_p.R170I|SERBP1_ENST00000370995.2_Missense_Mutation_p.R170I	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	170					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CCCTCGACCTCTTCCAAGACC	0.438000													18	32					3.5997e-14	3.83708e-14	1	1	0
TPM1	7168	broad.mit.edu	37	15	63354438	63354438	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:63354438G>C	ENST00000357980.4	+	8	869	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	TPM1_ENST00000403994.3_Missense_Mutation_p.E222Q|TPM1_ENST00000358278.3_Missense_Mutation_p.E222Q|TPM1_ENST00000559397.1_Missense_Mutation_p.E222Q|TPM1_ENST00000288398.6_Missense_Mutation_p.E222Q|TPM1_ENST00000267996.7_Missense_Mutation_p.E222Q|TPM1_ENST00000559556.1_Missense_Mutation_p.E222Q|TPM1_ENST00000559281.1_Missense_Mutation_p.E186Q|TPM1_ENST00000404484.4_Missense_Mutation_p.E186Q|TPM1_ENST00000334895.5_Missense_Mutation_p.E186Q|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000560959.1_Missense_Mutation_p.E186Q|TPM1_ENST00000317516.7_Missense_Mutation_p.E186Q			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	222					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AGACAGATATGAGGAAGAGAT	0.438000													23	62					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52585461	52585461	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:52585461C>G	ENST00000242839.4	-	1	169	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	ATP7B_ENST00000448424.2_Missense_Mutation_p.E5Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.E5Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.E5Q|ATP7B_ENST00000418097.2_Missense_Mutation_p.E5Q|ATP7B_ENST00000400370.3_Missense_Mutation_p.E5Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATCTGTCTCTCCTGCTCAGGC	0.592000									Wilson disease				23	37					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76134792	76134792	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:76134792C>G	ENST00000324432.5	+	12	2253	c.1743C>G	c.(1741-1743)atC>atG	p.I581M	DTX2_ENST00000430490.2_Missense_Mutation_p.I581M|DTX2_ENST00000446820.2_Missense_Mutation_p.I534M|DTX2_ENST00000307569.8_Missense_Mutation_p.I534M|DTX2_ENST00000413936.2_Missense_Mutation_p.I581M|DTX2_ENST00000446600.1_Missense_Mutation_p.I490M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	581					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGAACGAGATCCACCACAAGA	0.612000													3	23					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412894	124412894	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:124412894G>A	ENST00000306842.2	-	1	681	c.657C>T	c.(655-657)ctC>ctT	p.L219L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGGAGAGGATGAGGGCATAAG	0.433000													18	28					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22906904	22906904	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:22906904G>A	ENST00000400546.1	+	17	2578	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	NCAM2_ENST00000284894.7_Missense_Mutation_p.E635K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	777					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AACAGAGGATGAAAGAGTTAC	0.398000													7	31					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895030	77895030	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:77895030G>C	ENST00000262198.4	+	4	2189	c.1734G>C	c.(1732-1734)gtG>gtC	p.V578V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	578					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCTGCCTGTGAATCAGCCAG	0.542000													28	79					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128865027	128865027	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:128865027G>C	ENST00000296468.3	-	5	446	c.319C>G	c.(319-321)Ctt>Gtt	p.L107V	MFSD8_ENST00000541133.1_Missense_Mutation_p.L62V|MFSD8_ENST00000513559.1_Missense_Mutation_p.L62V|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	107					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAGACAATAAGAGGCTCTTTT	0.413000													17	39					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43428917	43428917	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:43428917C>G	ENST00000039989.4	+	15	1868	c.1854C>G	c.(1852-1854)atC>atG	p.I618M	TTC17_ENST00000299240.6_Missense_Mutation_p.I618M|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	618							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATGCTCCTATCTGGCTCATAC	0.353000													5	9					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109321781	109321781	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:109321781C>G	ENST00000436639.2	-	4	1387	c.642G>C	c.(640-642)gaG>gaC	p.E214D	SESN1_ENST00000356644.7_Missense_Mutation_p.E155D|SESN1_ENST00000302071.2_Missense_Mutation_p.E89D	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	155					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GAGGAGCATTCTCTAAACCAT	0.438000													23	43					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047081	156047081	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156047081C>T	ENST00000532414.2	-	2	846	c.847G>A	c.(847-849)Gag>Aag	p.E283K	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	283	KH 2.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GTCTCGATCTCCTCGCGCGCA	0.607000													11	45					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110834208	110834208	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:110834208C>G	ENST00000455511.3	-	2	253	c.253G>C	c.(253-255)Gat>Cat	p.D85H	ANAPC7_ENST00000450008.2_Missense_Mutation_p.D85H|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AAGAGAGAATCTGCATGATAC	0.388000													10	21					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278845	278845	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:278845G>A	ENST00000382352.3	+	1	1109	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	206							nucleic acid binding|zinc ion binding			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)			CGGTCATCCAGATCCCGGGCA	0.652000													14	41					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55034828	55034828	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:55034828C>T	ENST00000505374.1	+	2	129	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.H13Y|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000353507.5_Missense_Mutation_p.H13Y|DDX4_ENST00000514278.2_Missense_Mutation_p.H13Y	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	13					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			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)				AATCAACCCTCATATGTCTTC	0.323000													5	19					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148489832	148489832	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:148489832G>A	ENST00000325222.4	+	17	2100	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	CUL1_ENST00000602748.1_Silent_p.Q607Q|CUL1_ENST00000409469.1_Silent_p.Q607Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	607					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CGACATTCCAGATGGCTATCC	0.448000													9	10					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509812	125509812	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:125509812A>G	ENST00000341446.8	+	3	683	c.592A>G	c.(592-594)Acc>Gcc	p.T198A		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	198						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CTACTTCATGACCGGGCCCAT	0.632000													21	48					0	0	1	0	0
IGIP	492311	broad.mit.edu	37	5	139508082	139508082	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:139508082G>A	ENST00000333305.3	+	1	2562	c.21G>A	c.(19-21)atG>atA	p.M7I		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	7						extracellular region											ATTATCACATGAAGAAACGCA	0.358000													22	15					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9538374	9538374	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:9538374C>T	ENST00000378429.3	-	8	2170	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	PAK7_ENST00000353224.5_Missense_Mutation_p.E542K|PAK7_ENST00000378423.1_Missense_Mutation_p.E542K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	542	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTTCTTCATTCATTCTG	0.413000													27	51					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514392	123514392	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:123514392C>G	ENST00000422452.2	-	32	8256	c.8193G>C	c.(8191-8193)agG>agC	p.R2731S	TENM1_ENST00000371130.3_Missense_Mutation_p.R2724S|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTGTTACCTCCTGCCTATTT	0.353000													17	16					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119456230	119456230	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:119456230G>C	ENST00000273390.5	+	11	1439	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		TGGATAAGAAGAATAAAGTTC	0.348000													23	43					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661406	176661406	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:176661406C>T	ENST00000367662.3	+	6	3740	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	859					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						ACCAACAAGTCCCTCACTATC	0.507000													49	146					0	0	1	0	0
C20orf166	128826	broad.mit.edu	37	20	61167741	61167741	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:61167741C>G	ENST00000370527.3	+	4	990	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	C20orf166_ENST00000370524.2_Missense_Mutation_p.Q53E|C20orf166_ENST00000370523.1_Missense_Mutation_p.Q53E	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	71										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			GGCATTCTCTCAGCCCCAGCC	0.507000													13	38					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676026	73676026	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:73676026C>T	ENST00000264448.6	+	8	2480	c.2369C>T	c.(2368-2370)tCa>tTa	p.S790L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S790L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S748L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	790	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGAAAGTTTCAGCTGTTGCT	0.473000													57	134					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714125	43714125	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:43714125C>T	ENST00000263801.3	-	19	4265	c.4013G>A	c.(4012-4014)aGa>aAa	p.R1338K	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1343K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1343K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1343K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1338					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTTTTCCCTCTGAGTGGTCC	0.567000								Other conserved DNA damage response genes					19	45					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083891	42083891	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:42083891C>G	ENST00000187608.9	+	2	444	c.404C>G	c.(403-405)tCt>tGt	p.S135C	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S135C|CEACAM21_ENST00000482870.2_3'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	135						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAACAGGCATCTCACCATCTC	0.522000													19	60					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286151	62286151	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62286151C>T	ENST00000378024.4	-	5	16012	c.15738G>A	c.(15736-15738)gtG>gtA	p.V5246V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5246					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTCCATTTTCACACCTGGGA	0.537000													46	89					0	0	1	0	0
C10orf62	414157	broad.mit.edu	37	10	99350129	99350129	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:99350129G>A	ENST00000370640.3	+	1	680	c.475G>A	c.(475-477)Gag>Aag	p.E159K	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	159							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGGTCACCTAGAGTCCAAGGA	0.587000													29	68					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44127308	44127308	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:44127308C>T	ENST00000263795.6	+	3	582	c.512C>T	c.(511-513)tCa>tTa	p.S171L	WDR76_ENST00000381246.2_Missense_Mutation_p.S107L	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	171										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AAGAACATATCAGAAAACGCA	0.398000													12	38					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919953	58919953	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:58919953G>C	ENST00000528737.1	+	5	3630	c.812G>C	c.(811-813)aGa>aCa	p.R271T	FAM111A_ENST00000420244.1_Missense_Mutation_p.R271T|FAM111A_ENST00000533703.1_Missense_Mutation_p.R271T|FAM111A_ENST00000361723.3_Missense_Mutation_p.R271T|FAM111A_ENST00000531147.1_Missense_Mutation_p.R271T			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	271					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GTTGAGAAAAGAATGGTCCCC	0.428000													18	56					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73800873	73800873	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:73800873G>C	ENST00000223398.6	+	12	2829	c.2502G>C	c.(2500-2502)aaG>aaC	p.K834N	CLIP2_ENST00000395060.1_Missense_Mutation_p.K834N|CLIP2_ENST00000361545.5_Missense_Mutation_p.K799N	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	834						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCTGAACAAGAGGGACAAAG	0.602000													22	36					0	0	1	0	0
VAMP5	10791	broad.mit.edu	37	2	85818940	85818940	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:85818940G>C	ENST00000306384.4	+	2	179	c.96G>C	c.(94-96)gtG>gtC	p.V32V		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	32	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						AGCGTGGTGTGAAGCTGGCCG	0.582000													60	150					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133960999	133960999	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:133960999G>A	ENST00000361069.4	+	25	4252	c.4119G>A	c.(4117-4119)acG>acA	p.T1373T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1373	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGCAGACACGAGAAAGAAGA	0.592000													27	62					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45481968	45481968	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:45481968G>C	ENST00000331493.2	+	20	2613	c.2202G>C	c.(2200-2202)ttG>ttC	p.L734F	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L638F	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TGAGGGCTTTGAGGGACACCC	0.358000													8	24					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2217020	2217020	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:2217020G>C	ENST00000398665.3	+	21	2511	c.2475G>C	c.(2473-2475)ctG>ctC	p.L825L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	825						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGAAGCTGAGCCCTCAGG	0.667000													19	64					0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43541315	43541315	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:43541315G>C	ENST00000255136.3	+	2	290	c.208G>C	c.(208-210)Gac>Cac	p.D70H	PABPC1L_ENST00000217074.4_Missense_Mutation_p.D70H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.D70H|PABPC1L_ENST00000217073.2_Missense_Mutation_p.D70H	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	70	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GCGGGCACTGGACACAATGAA	0.512000													17	37					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121056	38121056	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:38121056T>A	ENST00000395867.3	-	6	1777	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.E409D	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATTCAGTACATTCATAGGGCT	0.438000													34	82					0	0	1	0	0
EIF2S1	1965	broad.mit.edu	37	14	67849196	67849196	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:67849196G>C	ENST00000256383.4	+	7	1172	c.711G>C	c.(709-711)atG>atC	p.M237I	EIF2S1_ENST00000466499.2_Missense_Mutation_p.M237I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	237						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GGTATGTAATGACTACGACAA	0.398000													17	39					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941064	153941064	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:153941064G>C	ENST00000368607.3	+	2	329	c.63G>C	c.(61-63)tcG>tcC	p.S21S	CREB3L4_ENST00000368603.1_Silent_p.S21S|CREB3L4_ENST00000368601.1_Silent_p.S21S|CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000271889.4_Silent_p.S21S|CREB3L4_ENST00000368600.3_Silent_p.S21S	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	21					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATCTTCTCGACAGGATCCG	0.622000													24	74					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091090	143091090	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:143091090C>G	ENST00000367603.2	-	5	5528	c.4786G>C	c.(4786-4788)Gag>Cag	p.E1596Q	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E1596Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1596Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCTTCCTCTTCCAGCTGA	0.542000													37	85					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540255	187540255	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:187540255G>A	ENST00000441802.2	-	10	7694	c.7485C>T	c.(7483-7485)aaC>aaT	p.N2495N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2495	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCATATTCGTTCTGAAGGA	0.443000										HNSCC(5;0.00058)			8	144					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832741	113832741	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:113832741G>A	ENST00000393197.2	+	4	680	c.259G>A	c.(259-261)Gag>Aag	p.E87K	IL1F10_ENST00000341010.2_Missense_Mutation_p.E87K|IL1F10_ENST00000337569.3_Missense_Mutation_p.E87K	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	87						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TGTGAACATTGAGGAACTGTA	0.582000													112	290					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025459	91025459	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:91025459G>A	ENST00000268182.5	+	28	3625	c.3501G>A	c.(3499-3501)ctG>ctA	p.L1167L	IQGAP1_ENST00000560738.1_Silent_p.L595L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1167	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAAAGTGCTGAAGGACTCGT	0.517000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	70					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300254	101300254	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:101300254G>A	ENST00000519449.1	-	3	465	c.149C>T	c.(148-150)tCt>tTt	p.S50F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S50F	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	50					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CAAGCTCACAGATGAAGCAGA	0.408000													13	25					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878025	44878025	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:44878025C>G	ENST00000355387.2	+	2	706	c.256C>G	c.(256-258)Cgt>Ggt	p.R86G	RNF220_ENST00000361799.2_Missense_Mutation_p.R86G|RNF220_ENST00000372247.2_Missense_Mutation_p.R86G			Q5VTB9	RN220_HUMAN	ring finger protein 220	86					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTTTGCCAATCGTGATTTCCC	0.507000													127	240					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116135890	116135890	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:116135890G>A	ENST00000238379.5	-	2	1642	c.745C>T	c.(745-747)Cca>Tca	p.P249S	HDHD3_ENST00000374180.3_Missense_Mutation_p.P249S	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	249							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CAAAGCCCTGGAGTTGAGCCC	0.582000													45	75					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123171648	123171648	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:123171648G>C	ENST00000264501.4	+	37	6215	c.5842G>C	c.(5842-5844)Gat>Cat	p.D1948H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1948H|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1948H			Q2LD37	K1109_HUMAN	KIAA1109	1948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				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						CTATAATACTGATGTCTCTGA	0.413000													12	65					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125580653	125580653	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:125580653G>A	ENST00000518547.1	-	7	1058	c.585C>T	c.(583-585)ttC>ttT	p.F195F	MTSS1_ENST00000325064.5_Silent_p.F199F|MTSS1_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000524090.1_Silent_p.F85F|MTSS1_ENST00000378017.3_Silent_p.F195F|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	195	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			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)			TGAAGGTACAGAATCGGCCAC	0.428000													24	55					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141526643	141526643	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:141526643C>G	ENST00000264952.2	+	3	1344	c.1207C>G	c.(1207-1209)Ctg>Gtg	p.L403V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	403	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TAAAGAGGATCTGAAGCAAAG	0.428000													24	36					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56334695	56334695	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:56334695C>T	ENST00000370754.5	-	97	22443	c.22444G>A	c.(22444-22446)Gat>Aat	p.D7482N	DST_ENST00000244364.6_Missense_Mutation_p.D4890N|DST_ENST00000421834.2_Missense_Mutation_p.D5189N|DST_ENST00000446842.2_Missense_Mutation_p.D6978N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D7304N|DST_ENST00000361203.3_Missense_Mutation_p.D7193N|DST_ENST00000370788.2_Missense_Mutation_p.D5107N			Q03001	DYST_HUMAN	dystonin	7302					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTTATTATCACCAATCTGC	0.328000													15	44					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33997443	33997443	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:33997443C>T	ENST00000382068.3	-	4	767	c.759G>A	c.(757-759)atG>atA	p.M253I	AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382085.3_Intron|AMACR_ENST00000502637.1_Intron|AMACR_ENST00000426255.2_3'UTR|AMACR_ENST00000335606.6_Intron|AMACR_ENST00000512079.1_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382072.2_Intron			Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AATTTTTAATCATCATTGGCT	0.448000											OREG0016555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	91					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149498955	149498955	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:149498955G>A	ENST00000378016.2	+	0	7407							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)			CGAGCCAGCTGAGCTGTGGCA	0.657000													14	29					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201752843	201752843	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:201752843G>A	ENST00000367296.4	+	7	3087	c.2667G>A	c.(2665-2667)caG>caA	p.Q889Q	NAV1_ENST00000367297.4_Silent_p.Q889Q|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Silent_p.Q889Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.Q498Q|NAV1_ENST00000367302.1_Silent_p.Q902Q|NAV1_ENST00000295624.6_Silent_p.Q889Q	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	889					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCTCCAGATGCCAATGA	0.602000													21	57					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638760	2638760	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:2638760G>A	ENST00000329276.5	+	12	2121	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	535	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCAAGAGGAAGAAGTCTACAC	0.478000													15	28					0	0	1	0	0
NDUFA13	51079	broad.mit.edu	37	19	19626987	19626987	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:19626987C>T	ENST00000252576.5	+	1	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L	NDUFA13_ENST00000507754.4_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCGCCACACTCATCATGGCGG	0.632000													18	34					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183206524	183206524	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:183206524C>T	ENST00000264144.4	+	18	2704	c.2639C>T	c.(2638-2640)tCa>tTa	p.S880L	LAMC2_ENST00000493293.1_Missense_Mutation_p.S880L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	880	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAGCGGATTCACTCTCAAGC	0.463000													10	32					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584544	189584544	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:189584544C>T	ENST00000264731.3	+	6	929	c.840C>T	c.(838-840)atC>atT	p.I280I	TP63_ENST00000418709.2_Silent_p.I280I|TP63_ENST00000392463.2_Silent_p.I186I|TP63_ENST00000354600.5_Silent_p.I186I|TP63_ENST00000449992.1_Silent_p.I101I|TP63_ENST00000320472.5_Silent_p.I280I|TP63_ENST00000440651.2_Silent_p.I280I|TP63_ENST00000392460.3_Silent_p.I280I|TP63_ENST00000437221.1_Silent_p.I186I|TP63_ENST00000392461.3_Silent_p.I186I|TP63_ENST00000456148.1_Silent_p.I186I|TP63_ENST00000382063.4_Silent_p.I195I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	280					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			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)		AAGATCCCATCACAGGAAGAC	0.453000										HNSCC(45;0.13)			15	54					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619567	8619567	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:8619567C>T	ENST00000338257.8	-	3	469	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	68	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCTCACGGTCGGTGAAGTAG	0.617000													24	79					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68506253	68506253	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:68506253C>G	ENST00000443940.2	-	5	841	c.755G>C	c.(754-756)tGa>tCa	p.*252S	MTL5_ENST00000255087.5_Missense_Mutation_p.E278Q|MTL5_ENST00000544963.1_Missense_Mutation_p.E278Q|MTL5_ENST00000540869.1_5'UTR			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	0					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			AAGGCTCCCTCAAGCTGTTCA	0.438000													13	37					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196276	42196276	+	Missense_Mutation	SNP	C	C	T	rs139388497		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:42196276C>T	ENST00000541110.1	-	18	4038	c.3470G>A	c.(3469-3471)gGg>gAg	p.G1157E	TRERF1_ENST00000340840.2_Missense_Mutation_p.G1066E|TRERF1_ENST00000354325.2_Missense_Mutation_p.G1054E|TRERF1_ENST00000372922.4_Missense_Mutation_p.G1137E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G1066E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1137	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCACGGGCCCCGTAGTCCT	0.597000													101	299					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127999230	127999230	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:127999230C>T	ENST00000324460.6	-	8	1809	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	536					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCGATTTCTTCAGGTGTCAGG	0.418000										Prostate(1;0.17)			40	111					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128392778	128392778	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:128392778G>C	ENST00000389524.4	+	42	5775	c.5722G>C	c.(5722-5724)Gac>Cac	p.D1908H	MYO7B_ENST00000409090.1_Missense_Mutation_p.D760H|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1907H|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1907H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1907	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		TGTGAATGCAGACACCATACT	0.607000													7	22					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123301432	123301432	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:123301432C>T	ENST00000349780.4	-	6	573	c.394G>A	c.(394-396)Gag>Aag	p.E132K	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E132K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E132K|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E132K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	132					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			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						GCTAAGCTCTCAACTGCTTTG	0.463000													24	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			15	51					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59999837	59999837	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:59999837C>T	ENST00000468189.1	-	6	515	c.145G>A	c.(145-147)Gac>Aac	p.D49N	FHIT_ENST00000492590.1_Missense_Mutation_p.D49N|FHIT_ENST00000341848.4_Missense_Mutation_p.D49N|FHIT_ENST00000466788.1_Intron|FHIT_ENST00000476844.1_Missense_Mutation_p.D49N			P49789	FHIT_HUMAN	fragile histidine triad	49	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GGACGCAGGTCATGGAAGCGC	0.537000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				21	58					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872496	36872496	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:36872496C>T	ENST00000301807.6	-	21	8693	c.6796G>A	c.(6796-6798)Gag>Aag	p.E2266K	TRANK1_ENST00000429976.2_Missense_Mutation_p.E2816K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E2266K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2816					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACACTTTGCTCGATGTCCTGC	0.542000													55	160					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9546908	9546908	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:9546908C>T	ENST00000396602.2	+	15	1927	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	ZNF143_ENST00000396597.3_Missense_Mutation_p.S572F|ZNF143_ENST00000530463.1_Missense_Mutation_p.S602F|ZNF143_ENST00000396604.1_Missense_Mutation_p.S602F|ZNF143_ENST00000299606.2_Missense_Mutation_p.S575F	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	603					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GTAGCAACATCCAATGGCACC	0.493000													18	64					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406649	138406649	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:138406649C>T	ENST00000310018.2	-	19	2414	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G711E|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G711E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	711					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.G711A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TACCTCTTCTCCATGGTCGTC	0.552000													16	30					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56657184	56657184	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:56657184G>C	ENST00000431842.2	-	17	4507	c.3583C>G	c.(3583-3585)Caa>Gaa	p.Q1195E	FAM208A_ENST00000355628.5_Missense_Mutation_p.Q1571E|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000485156.1_5'UTR	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1632										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						TCATTTTCTTGAGACTGACTT	0.378000													20	48					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152470907	152470907	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:152470907C>T	ENST00000397345.3	-	77	11686	c.11484G>A	c.(11482-11484)aaG>aaA	p.K3828K	NEB_ENST00000409198.1_Silent_p.K3585K|NEB_ENST00000172853.10_Silent_p.K3585K|NEB_ENST00000427231.2_Silent_p.K3828K|NEB_ENST00000604864.1_Silent_p.K3828K|NEB_ENST00000603639.1_Silent_p.K3828K	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3828					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			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)		TCTGACACTTCTTGGCCAGCA	0.532000													80	182					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172643277	172643277	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:172643277G>C	ENST00000351008.3	-	7	1270	c.1087C>G	c.(1087-1089)Caa>Gaa	p.Q363E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	363					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			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)			TGGAGTGCTTGAAGATCTGAA	0.378000													17	43					0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56552256	56552256	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:56552256G>A	ENST00000536128.1	+	1	111	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	MYL6_ENST00000551589.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R24Q|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGTGGGGGGCGAGGAGAAGGC	0.637000													7	18					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916433	86916433	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:86916433G>A	ENST00000395184.1	+	9	2092	c.1626G>A	c.(1624-1626)atG>atA	p.M542I	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.M447I|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.M449I	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	542					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TCTCCATGATGAACCTTGATG	0.488000													15	56					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269598	65269598	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:65269598G>C	ENST00000534336.1	+	0	4366					NR_002819.2																						GTCATAATTTGATACTGTATC	0.418000													7	38					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3039437	3039437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:3039437G>C	ENST00000448120.2	+	5	469	c.418G>C	c.(418-420)Gat>Cat	p.D140H	TULP3_ENST00000397132.2_Missense_Mutation_p.D140H	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	140					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGAACTTCGATGAGGAGAC	0.373000													4	12					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18021897	18021897	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:18021897G>A	ENST00000400573.5	+	16	2006	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	CECR2_ENST00000262608.8_Missense_Mutation_p.E668K|CECR2_ENST00000400585.2_Missense_Mutation_p.E526K			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACACCAGAGGAGAAGCAAAT	0.552000													5	18					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91252589	91252589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:91252589G>A	ENST00000357056.2	-	2	326	c.205C>T	c.(205-207)Cga>Tga	p.R69*	TTC7B_ENST00000328459.6_Nonsense_Mutation_p.R69*			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	69							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TTGGGGCCTCGGGGACTGGCC	0.617000													6	83					0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165634313	165634313	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:165634313G>T	ENST00000354775.4	-	10	1708	c.1404C>A	c.(1402-1404)ttC>ttA	p.F468L	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.F374L	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	444					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			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)	AGTTGTTAATGAAGCACGTCC	0.463000													20	36					1.1804e-14	1.26034e-14	1	1	0
RAB30	27314	broad.mit.edu	37	11	82693412	82693412	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:82693412C>T	ENST00000533486.1	-	6	691	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	RAB30_ENST00000534141.1_Missense_Mutation_p.E135K|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Missense_Mutation_p.R136Q|RAB30_ENST00000260056.2_Missense_Mutation_p.R136Q	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	136					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTTCAGCTCGCTGCTGGGA	0.428000													16	28					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133430034	133430034	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:133430034G>A	ENST00000266880.7	-	12	1454	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	CHFR_ENST00000432561.2_Missense_Mutation_p.S464F|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.S452F|CHFR_ENST00000443047.2_Missense_Mutation_p.S372F|CHFR_ENST00000537522.1_Missense_Mutation_p.S86F|CHFR_ENST00000315585.7_Missense_Mutation_p.S423F			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	464					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CAGGCTGACGGACGTGGAGGG	0.706000													4	12					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51981539	51981539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:51981539C>T	ENST00000220478.3	+	6	1067	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	222					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GACTGAGAATCAGGCTGGAAA	0.413000													7	22					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149238751	149238751	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:149238751C>T	ENST00000465804.1	-	8	1300	c.1044G>A	c.(1042-1044)atG>atA	p.M348I	WWTR1_ENST00000467467.1_Missense_Mutation_p.M348I|WWTR1_ENST00000360632.3_Missense_Mutation_p.M348I	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	348					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GATTGATGTTCATGGGTGTTT	0.413000			T	CAMTA1	epitheliod hemangioendothelioma								43	92					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70263227	70263227	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:70263227G>A	ENST00000301843.8	+	8	772	c.566G>A	c.(565-567)aGa>aAa	p.R189K	CTTN_ENST00000376561.3_Missense_Mutation_p.R189K|CTTN_ENST00000346329.3_Missense_Mutation_p.R189K	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	189						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GAGTCACAGAGAGGTGGGGCG	0.557000													32	52					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884718	28884718	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:28884718C>G	ENST00000375664.4	+	7	1141	c.532C>G	c.(532-534)Caa>Gaa	p.Q178E	WAC_ENST00000428935.1_Missense_Mutation_p.Q178E|WAC_ENST00000354911.4_Missense_Mutation_p.Q223E|WAC_ENST00000347934.4_Intron|WAC_ENST00000375646.1_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						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			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TATTTTGTCTCAAACAAGCAG	0.448000													21	50					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047336	156047336	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156047336C>T	ENST00000532414.2	-	2	591	c.592G>A	c.(592-594)Gag>Aag	p.E198K	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	198						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GAGAAGTGCTCCGCTGCTGAG	0.647000													6	16					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83984258	83984258	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:83984258C>G	ENST00000509093.1	+	7	1523	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	COPS4_ENST00000503682.1_Missense_Mutation_p.L249V|COPS4_ENST00000264389.2_Missense_Mutation_p.L249V|COPS4_ENST00000511653.1_Missense_Mutation_p.L249V	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	249	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GCTAGCTACTCTTTTTAAGGA	0.378000													12	30					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304375	47304375	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:47304375C>T	ENST00000342922.4	+	10	2074	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	MADD_ENST00000395336.3_Missense_Mutation_p.P573S|MADD_ENST00000395344.3_Missense_Mutation_p.P573S|MADD_ENST00000402799.1_Missense_Mutation_p.P573S|MADD_ENST00000402192.2_Missense_Mutation_p.P573S|MADD_ENST00000407859.3_Missense_Mutation_p.P573S|MADD_ENST00000406482.1_Missense_Mutation_p.P573S|MADD_ENST00000311027.5_Missense_Mutation_p.P573S|MADD_ENST00000349238.3_Missense_Mutation_p.P573S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	573					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			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)		TATGTTTGATCCAGCCCTGAT	0.488000													21	65					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120396	47120396	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:47120396C>G	ENST00000298283.3	-	1	632	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	182					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ACCATGTCTTCAAATTCGTCA	0.517000													36	71					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223116204	223116204	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:223116204G>A	ENST00000284476.6	+	2	203	c.39G>A	c.(37-39)ctG>ctA	p.L13L	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Silent_p.L13L	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	13					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGTGGTTCTGAGCAACAGCA	0.493000													17	46					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222203	42222203	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:42222203C>G	ENST00000221992.6	+	6	1508	c.1394C>G	c.(1393-1395)tCc>tGc	p.S465C	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S464C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S465C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	465	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCTTTATCTCCAACATCACT	0.507000													21	52					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44219565	44219565	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:44219565G>A	ENST00000395673.3	+	9	1647	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EXT2_ENST00000358681.4_Missense_Mutation_p.E508K|EXT2_ENST00000533608.1_Missense_Mutation_p.E498K|EXT2_ENST00000343631.3_Missense_Mutation_p.E498K	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	498					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAACCCTCCAGAAGGTAAGAA	0.423000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				9	48					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40044127	40044127	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:40044127C>G	ENST00000373233.3	-	34	6815	c.6638G>C	c.(6637-6639)gGg>gCg	p.G2213A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2213					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			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)				AGCTGACTCCCCATGCCAGCC	0.602000													7	16					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20918864	20918864	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:20918864G>T	ENST00000263205.7	+	6	648	c.579G>T	c.(577-579)caG>caT	p.Q193H	MED15_ENST00000382974.2_Missense_Mutation_p.Q122H|MED15_ENST00000541476.1_Missense_Mutation_p.Q167H|MED15_ENST00000425759.2_Missense_Mutation_p.Q82H|MED15_ENST00000406969.1_Missense_Mutation_p.Q167H|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.Q193H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	193	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209)			aggctcagcagagtgccatgc	0.577000											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	12					1.61879e-10	1.68889e-10	1	1	0
MZF1	7593	broad.mit.edu	37	19	59073864	59073864	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:59073864C>T	ENST00000215057.2	-	6	2340	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E594K|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	594					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AAGGGTTTCTCGCCCGTGTGT	0.672000													12	29					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386725	89386725	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:89386725C>T	ENST00000439576.2	+	6	1271	c.897C>T	c.(895-897)gcC>gcT	p.A299A	ACAN_ENST00000561243.1_Silent_p.A299A|ACAN_ENST00000558207.1_Silent_p.A299A|ACAN_ENST00000559004.1_Silent_p.A299A|ACAN_ENST00000352105.7_Silent_p.A299A	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	299					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGCAGCGCCGGCTGGCTGG	0.701000													12	26					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901455	160901455	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:160901455G>C	ENST00000283243.7	-	2	529	c.323C>G	c.(322-324)tCc>tGc	p.S108C	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S108C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	108	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AACGAGGGTGGAGTCACATTC	0.537000													17	35					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221053721	221053721	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:221053721C>T	ENST00000366903.6	+	1	2023	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	174					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAAAGACCTCAAATTTGGAA	0.627000													24	47					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96421237	96421237	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:96421237G>A	ENST00000228740.2	-	3	537	c.396C>T	c.(394-396)ctC>ctT	p.L132L	LTA4H_ENST00000552789.1_Silent_p.L108L|LTA4H_ENST00000413268.2_Silent_p.L108L|RP11-256L6.2_ENST00000547346.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	132					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						ACTGACTAAAGAGATATGGGT	0.393000													9	32					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108725917	108725917	+	Missense_Mutation	SNP	C	C	T	rs138435095		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:108725917C>T	ENST00000232603.5	-	18	1808	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	576					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E576K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGTGATTTCGTCCACTGGT	0.363000													15	35					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47811696	47811696	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47811696G>A	ENST00000285106.6	-	6	1379	c.665C>T	c.(664-666)tCg>tTg	p.S222L	CXXC1_ENST00000589940.1_Splice_Site_p.S222L|CXXC1_ENST00000412036.2_Splice_Site_p.S222L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	222					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGGACTCACCGAGGAAGGGAA	0.672000													22	56					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193056	42193056	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:42193056C>T	ENST00000220325.4	-	6	1496	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	471	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCATCTCCTTCTTGGCGTTGA	0.577000													21	58					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	313399	313399	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:313399G>C	ENST00000399932.3	+	9	1561	c.1110G>C	c.(1108-1110)ctG>ctC	p.L370L	ITFG3_ENST00000600536.1_Silent_p.L370L|ITFG3_ENST00000450082.2_Silent_p.L370L|ITFG3_ENST00000301678.3_Silent_p.L370L|ITFG3_ENST00000442458.2_Silent_p.L370L|ITFG3_ENST00000301679.2_Silent_p.L370L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	370						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCCATGTCCTGAGGTACAGGG	0.677000													16	24					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42213644	42213644	+	Silent	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:42213644C>A	ENST00000373100.1	+	14	1552	c.1092C>A	c.(1090-1092)atC>atA	p.I364I	SGK2_ENST00000373092.3_Silent_p.I364I|SGK2_ENST00000373077.1_Silent_p.I363I|SGK2_ENST00000426287.1_Silent_p.I390I|SGK2_ENST00000341458.4_Silent_p.I424I|SGK2_ENST00000423407.3_Silent_p.I364I			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	424	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGATGACATCTTGGATTGCT	0.493000													29	47					2.20262e-25	2.38368e-25	1	1	0
STAB1	23166	broad.mit.edu	37	3	52529474	52529474	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:52529474C>T	ENST00000321725.6	+	1	121	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	15					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGGCCTTCTGCCTGGCAG	0.692000													9	15					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128001074	128001074	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:128001074C>G	ENST00000324460.6	-	6	1232	c.1029G>C	c.(1027-1029)caG>caC	p.Q343H		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	343					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.Q343H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCAACACTTTCTGGACGGGCT	0.393000										Prostate(1;0.17)			25	42					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353579	165353579	+	Missense_Mutation	SNP	G	G	A	rs66485140		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:165353579G>A	ENST00000263915.3	-	12	1859	c.1321C>T	c.(1321-1323)Cac>Tac	p.H441Y	GRB14_ENST00000543549.1_Missense_Mutation_p.H354Y	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	441	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTTTGTGGTGAAACCATGGC	0.388000													15	34					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55880715	55880715	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:55880715C>T	ENST00000521992.1	-	13	1693	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Silent_p.K487K|CES5A_ENST00000518005.1_Silent_p.K381K|CES5A_ENST00000520435.1_Silent_p.K457K|CES5A_ENST00000319165.9_Silent_p.K437K	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	487						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATTTCATCATCTTCCGGCTCA	0.562000													71	180					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11060123	11060123	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:11060123G>A	ENST00000450189.1	+	1	231	c.71G>A	c.(70-72)aGa>aAa	p.R24K	CELF2_ENST00000417956.2_5'UTR|CELF2_ENST00000379261.4_Intron|CELF2_ENST00000399850.3_5'UTR|CELF2_ENST00000542579.1_Missense_Mutation_p.R24K|CELF2_ENST00000416382.2_Intron	NM_006561.3	NP_006552.3	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	0	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTTCCTGACAGAATGTGAGTG	0.726000													22	97					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29691953	29691953	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:29691953C>G	ENST00000376861.1	+	4	722	c.338C>G	c.(337-339)tCt>tGt	p.S113C	HLA-F_ENST00000434407.2_Missense_Mutation_p.S113C|HLA-F_ENST00000334668.4_Missense_Mutation_p.S113C|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.S113C			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	113	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CGGCTAGGGTCTCACACCCTC	0.652000													22	58					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34167703	34167703	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:34167703G>A	ENST00000257829.3	+	29	3248	c.3042G>A	c.(3040-3042)aaG>aaA	p.K1014K	NAT10_ENST00000527971.1_Silent_p.K277K|NAT10_ENST00000531159.2_Silent_p.K942K|NAT10_ENST00000532555.1_3'UTR	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	1014	Lys-rich.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAGAGACAAAGAACAAAAAAG	0.378000													4	12					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29937285	29937285	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:29937285G>A	ENST00000568000.1	-	1	1071	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Missense_Mutation_p.L24F	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	24					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CCAGGCTCGAGACCCGAGGGC	0.721000													3	19					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33295665	33295665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:33295665C>T	ENST00000373475.5	+	5	1275	c.1021C>T	c.(1021-1023)Caa>Taa	p.Q341*	S100PBP_ENST00000398243.3_Nonsense_Mutation_p.Q340*|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.Q341*|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	341						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGACACTAACCAAGGTAACAT	0.403000													11	50					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954977	141954977	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:141954977C>T	ENST00000552471.1	-	3	653	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PRSS58_ENST00000547058.2_Missense_Mutation_p.E112K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	112	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TCATTGAGTTCAGCCTCTGTT	0.408000													33	80					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242726	4242726	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:4242726C>G	ENST00000399609.3	-	6	862	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	SRL_ENST00000537996.1_Missense_Mutation_p.E242Q	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	743	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CTTGGGGGCTCTGTGACATTG	0.537000													30	58					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18064645	18064645	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:18064645G>A	ENST00000205890.5	+	57	9739	c.9401G>A	c.(9400-9402)cGa>cAa	p.R3134Q	MYO15A_ENST00000418233.3_Missense_Mutation_p.R398Q|MYO15A_ENST00000451725.2_Missense_Mutation_p.R26Q	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3134	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGCCAGCGAGGCTGGAGG	0.607000													28	49					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54041916	54041916	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:54041916G>T	ENST00000373980.4	+	14	1966	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	PRKG1_ENST00000401604.2_Missense_Mutation_p.D502Y|PRKG1_ENST00000373985.1_Missense_Mutation_p.D490Y|PRKG1_ENST00000373975.2_Missense_Mutation_p.D220Y|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	502	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGTAAGGTTGATTTTGGCTT	0.333000													6	16					0.27861	0.279266	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113378828	113378828	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:113378828C>T	ENST00000316407.4	-	7	2111	c.1701G>A	c.(1699-1701)atG>atA	p.M567I	KIAA2018_ENST00000478658.1_Missense_Mutation_p.M567I|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	567					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTCTGCCCTCATCACTGTTG	0.473000													23	78					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815446	46815446	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:46815446G>A	ENST00000339613.2	+	7	886	c.631G>A	c.(631-633)Gat>Aat	p.D211N	HIF3A_ENST00000244303.6_Missense_Mutation_p.D198N|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000300862.3_Missense_Mutation_p.D265N|HIF3A_ENST00000600383.1_Missense_Mutation_p.D198N|HIF3A_ENST00000377670.4_Missense_Mutation_p.D267N|HIF3A_ENST00000472815.1_Missense_Mutation_p.D198N|HIF3A_ENST00000420102.2_Missense_Mutation_p.D216N			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTATAGTCCCGATGACCTGAT	0.592000													80	174					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934959	30934959	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:30934959G>T	ENST00000355537.3	+	2	637	c.490G>T	c.(490-492)Gac>Tac	p.D164Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					CCCGTACTGCGACCACAGGGC	0.662000													20	39					9.95505e-16	1.06471e-15	1	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132446	59132446	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:59132446C>T	ENST00000313940.2	+	1	562	c.515C>T	c.(514-516)tCt>tTt	p.S172F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTCTGTGGGTCTAATGTCATC	0.448000													38	66					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743320	16743320	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:16743320C>G	ENST00000381323.3	-	6	608	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	FAM49A_ENST00000355549.2_Missense_Mutation_p.E130Q|FAM49A_ENST00000406434.1_Missense_Mutation_p.E130Q	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	130						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCGGCAAACTCCTTTGCCAGG	0.418000													30	48					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144680316	144680316	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:144680316C>T	ENST00000321385.3	+	1	243	c.96C>T	c.(94-96)ttC>ttT	p.F32F	TIGD5_ENST00000504548.2_Silent_p.F81F			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	81					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCGCGACTTCGGCGTGCCGG	0.682000													6	24					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109459792	109459792	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:109459792G>A	ENST00000262844.5	-	3	820	c.653C>T	c.(652-654)tCt>tTt	p.S218F	AMMECR1_ENST00000372059.2_Missense_Mutation_p.S181F|AMMECR1_ENST00000372057.1_Missense_Mutation_p.S95F	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	218	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						AGTGAGCAGAGACACTGAGCA	0.383000													24	20					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705118	40705118	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:40705118G>C	ENST00000372771.4	+	8	4771	c.4744G>C	c.(4744-4746)Gag>Cag	p.E1582Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1582					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGCCTATTTAGAGCAACAGAT	0.433000													17	38					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124401033	124401033	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:124401033C>T	ENST00000409039.3	+	62	10423	c.10398C>T	c.(10396-10398)ctC>ctT	p.L3466L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3466	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		CTGACTTCCTCAAGCAGCTAG	0.463000													33	108					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71779077	71779077	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:71779077G>A	ENST00000299980.4	-	19	2410	c.1969C>T	c.(1969-1971)Ctt>Ttt	p.L657F	AP1G1_ENST00000569748.1_Missense_Mutation_p.L657F|AP1G1_ENST00000564155.1_Missense_Mutation_p.L82F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L680F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L660F|AP1G1_ENST00000393512.3_Missense_Mutation_p.L660F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	657					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCAAATCAAGAAGTTCTCCA	0.438000													23	56					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27294537	27294537	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:27294537C>T	ENST00000376087.4	-	34	5280	c.5115G>A	c.(5113-5115)aaG>aaA	p.K1705K	ANKRD26_ENST00000376070.3_Silent_p.K1262K|ANKRD26_ENST00000436985.2_Silent_p.K1721K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1704						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATAATTTTTCTTTAAAACCT	0.284000													12	61					0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12848430	12848430	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:12848430G>A	ENST00000591090.1	+	2	213	c.111G>A	c.(109-111)ctG>ctA	p.L37L	ASNA1_ENST00000357332.3_Silent_p.L37L			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	37					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	AGCGCAGCCTGAAGTGGATCT	0.632000													11	40					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748005	151748005	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:151748005C>G	ENST00000368822.1	-	10	1930	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	TDRKH_ENST00000440583.2_Missense_Mutation_p.E209Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E429Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E433Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E433Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E388Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E433Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	433							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGCTTCCTCTTCCCACTGG	0.493000													32	66					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995397	120995397	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:120995397G>A	ENST00000325954.4	+	6	1340	c.879G>A	c.(877-879)acG>acA	p.T293T	RNF10_ENST00000413266.2_Silent_p.T293T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	293					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATACCATTACGATGCAGCTGA	0.453000													34	88					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85598547	85598547	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:85598547C>G	ENST00000294664.6	+	23	2722	c.2542C>G	c.(2542-2544)Cag>Gag	p.Q848E	WDR63_ENST00000370596.1_Missense_Mutation_p.Q809E|WDR63_ENST00000326813.8_Missense_Mutation_p.Q809E	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	848										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GAAAACATATCAGAAGTCAAA	0.373000													13	17					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99705605	99705605	+	Missense_Mutation	SNP	G	G	A	rs148566323		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:99705605G>A	ENST00000344095.4	-	14	2125	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	TAF6_ENST00000437822.2_Missense_Mutation_p.P571S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.P534S|TAF6_ENST00000418432.2_Missense_Mutation_p.P458S|TAF6_ENST00000472509.1_Missense_Mutation_p.P591S|TAF6_ENST00000452041.1_Missense_Mutation_p.P534S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	534					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGTTGGAGGAGGGGAAGGC	0.612000													24	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086320	9086320	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:9086320G>C	ENST00000397910.4	-	1	5698	c.5495C>G	c.(5494-5496)tCt>tGt	p.S1832C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1832	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GAGAGTGAGAGAAATCCATGG	0.488000													22	54					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122660558	122660558	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:122660558G>A	ENST00000263461.6	+	21	2881	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	879						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGACTATCCAGAAAATGAAGA	0.299000													9	11					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356467	70356467	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:70356467A>G	ENST00000333646.6	+	37	5561	c.5362A>G	c.(5362-5364)Aag>Gag	p.K1788E	MED12_ENST00000374102.1_Missense_Mutation_p.K1788E|MED12_ENST00000374080.3_Missense_Mutation_p.K1788E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1788	Interaction with CTNNB1 and GLI3.				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			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)					GAAGTCCACCAAGGGCAAGAA	0.582000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						12	5					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164724689	164724689	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:164724689C>T	ENST00000264382.3	-	37	4383	c.4321G>A	c.(4321-4323)Gag>Aag	p.E1441K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1441	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGAATCTGCTCAGCTTCCATG	0.348000										HNSCC(35;0.089)			10	11					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48818331	48818331	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:48818331G>A	ENST00000316623.5	-	9	1439	c.984C>T	c.(982-984)tgC>tgT	p.C328C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	328	EGF-like 5; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTACCTATGCATCTGGTAC	0.398000													17	49					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720733	146720733	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:146720733C>G	ENST00000392299.2	+	8	3028	c.2558C>G	c.(2557-2559)tCt>tGt	p.S853C	GRM1_ENST00000355289.4_Missense_Mutation_p.S853C|GRM1_ENST00000282753.1_Missense_Mutation_p.S853C|GRM1_ENST00000361719.2_Missense_Mutation_p.S853C|GRM1_ENST00000492807.2_Missense_Mutation_p.S853C|GRM1_ENST00000507907.1_Missense_Mutation_p.S853C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	853					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTCACCACCTCTGATGTTGTC	0.537000													14	30					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99993064	99993064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:99993064G>T	ENST00000289371.6	+	10	2009	c.1807G>T	c.(1807-1809)Gaa>Taa	p.E603*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GACTAAAGAAGAAAGGGCTTA	0.378000													29	80					1.22384e-17	1.31221e-17	1	1	0
ARNTL	406	broad.mit.edu	37	11	13398097	13398097	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:13398097G>C	ENST00000389708.3	+	16	1686	c.1331G>C	c.(1330-1332)aGa>aCa	p.R444T	ARNTL_ENST00000403290.1_Intron|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000401424.1_Intron|ARNTL_ENST00000403482.3_Intron|ARNTL_ENST00000403510.3_Intron|ARNTL_ENST00000389707.4_Intron|ARNTL_ENST00000396441.3_Intron			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	444	PAC.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCCAGGTCCAGAGTGGACACC	0.512000													27	55					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113831924	113831924	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:113831924G>A	ENST00000393197.2	+	2	472	c.51G>A	c.(49-51)caG>caA	p.Q17Q	IL1F10_ENST00000341010.2_Silent_p.Q17Q|IL1F10_ENST00000337569.3_Intron	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	17						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						ATGCAGACCAGAAGGCTCTAT	0.527000													7	22					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962677	41962677	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:41962677G>C	ENST00000454645.1	-	0	827					NR_003670.1																						TGTCCATTTAGCTGCTGCATA	0.358000													10	15					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5994902	5994902	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:5994902C>T	ENST00000303657.5	-	18	2265	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	RFX2_ENST00000592546.1_Missense_Mutation_p.E681K|RFX2_ENST00000359161.3_Missense_Mutation_p.E706K|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACCAGGGGCTCACCCAGGCTG	0.677000													24	39					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385098	108385098	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:108385098G>C	ENST00000265843.4	-	6	1246	c.1136C>G	c.(1135-1137)tCt>tGt	p.S379C	EXPH5_ENST00000443411.1_Missense_Mutation_p.S191C|EXPH5_ENST00000525344.1_Missense_Mutation_p.S372C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S303C|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	379					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTGTCTCTAGAGGAATCTGA	0.478000													38	115					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050150	120050150	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:120050150G>C	ENST00000235547.6	+	2	196	c.57G>C	c.(55-57)caG>caC	p.Q19H	HSD3B1_ENST00000369413.3_Missense_Mutation_p.Q17H|HSD3B1_ENST00000528909.1_Missense_Mutation_p.Q17H	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	17					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTCTGGGACAGAGGATCATCC	0.527000													23	53					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111982701	111982701	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:111982701G>C	ENST00000361822.3	+	12	1399	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	424						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAACAAAATGAAAATGTTCC	0.363000													11	33					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13247726	13247726	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:13247726C>G	ENST00000319217.7	-	3	338	c.91G>C	c.(91-93)Gac>Cac	p.D31H	MPDZ_ENST00000381022.2_Missense_Mutation_p.D31H|MPDZ_ENST00000447879.1_Missense_Mutation_p.D31H|MPDZ_ENST00000541718.1_Missense_Mutation_p.D31H|MPDZ_ENST00000536827.1_Missense_Mutation_p.D31H|MPDZ_ENST00000381015.4_Missense_Mutation_p.D31H|MPDZ_ENST00000546205.1_Missense_Mutation_p.D31H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	31	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCAGTTTGTCTTCATTTGCT	0.498000													56	127					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142119370	142119370	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:142119370G>C	ENST00000264951.4	-	19	2240	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.S708*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	708					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AAGCACTGATGAAGCTACATT	0.363000													19	47					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098572	38098572	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:38098572C>G	ENST00000290399.6	+	6	1309	c.696C>G	c.(694-696)ttC>ttG	p.F232L	SIM2_ENST00000430056.3_Missense_Mutation_p.F232L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	232	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTAACATGTTCATGTTCAGGG	0.582000													20	33					0	0	1	0	0
COMMD9	29099	broad.mit.edu	37	11	36297690	36297690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:36297690C>A	ENST00000532705.1	-	4	429	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	COMMD9_ENST00000452374.2_Missense_Mutation_p.M109I|COMMD9_ENST00000263401.5_Missense_Mutation_p.M151I			Q9P000	COMD9_HUMAN	COMM domain containing 9	0	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AATGTACCTTCATCTGGAGCA	0.512000													19	25					1.33834e-09	1.39287e-09	1	1	0
DBF4	10926	broad.mit.edu	37	7	87530130	87530130	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:87530130G>A	ENST00000265728.1	+	10	1365	c.861G>A	c.(859-861)ttG>ttA	p.L287L		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	287					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.L287L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AACTCCAGTTGAAAGAGAAGA	0.353000													33	69					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226175824	226175824	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:226175824C>T	ENST00000272091.7	-	6	925	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCTTTGGACTCCCCCAGCTCA	0.498000													43	92					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111638003	111638003	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:111638003G>A	ENST00000431670.2	+	4	2215	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	PHLDB2_ENST00000495180.1_Missense_Mutation_p.E188K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E602K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E602K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E629K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E602K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	602						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAACAACCTCGAGGAACTTAA	0.403000													33	70					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156228889	156228889	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156228889G>T	ENST00000361813.5	-	16	2493	c.2349C>A	c.(2347-2349)atC>atA	p.I783I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	783					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGAACTGCAGGATGCTGCCTT	0.602000													17	62					2.35188e-11	2.46581e-11	1	1	0
RNF216	54476	broad.mit.edu	37	7	5769199	5769199	+	Missense_Mutation	SNP	G	G	C	rs144615363		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:5769199G>C	ENST00000425013.2	-	7	1306	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	RNF216_ENST00000389902.3_Missense_Mutation_p.S418C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	361					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGTCAATTTAGAATAGTCAAA	0.453000													19	38					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20909268	20909268	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:20909268G>A	ENST00000263205.7	+	5	353	c.284G>A	c.(283-285)gGa>gAa	p.G95E	MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.G69E|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.G69E|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.G95E	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	95					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209)			CCTGCTGCGGGAGCCGCTGGA	0.617000													30	70					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262881	34262881	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:34262881C>T	ENST00000262622.4	+	4	946	c.188C>T	c.(187-189)tCc>tTc	p.S63F	CHST8_ENST00000434302.1_Missense_Mutation_p.S63F|CHST8_ENST00000438847.3_Missense_Mutation_p.S63F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGGCGGCTCCCAGGATGGT	0.627000													26	75					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87643506	87643506	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:87643506C>G	ENST00000436978.1	+	10	2007	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	PTPN13_ENST00000427191.2_Missense_Mutation_p.I509M|PTPN13_ENST00000316707.6_Missense_Mutation_p.I509M|PTPN13_ENST00000411767.2_Missense_Mutation_p.I509M|PTPN13_ENST00000511467.1_Missense_Mutation_p.I509M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	509						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGACACAATCAAAGCGTCCA	0.453000													15	122					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065107	15065107	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:15065107C>T	ENST00000430939.2	-	7	1141	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	SLC1A6_ENST00000600144.1_Missense_Mutation_p.E324K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E402K			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	402					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			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)	AGGCCCTCCTCCAGGCAGCGG	0.697000													34	80					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011453	40011453	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40011453C>T	ENST00000319121.3	-	2	726	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	222	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CAGCAGCCTTCAGAGCAAGTT	0.378000													25	46					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891376	6891376	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:6891376C>G	ENST00000307322.4	+	1	453	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L131M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCGTGCCAAACTGGCTGCTGC	0.527000													45	131					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740595	141740595	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:141740595G>A	ENST00000475668.2	+	21	2501	c.2447G>A	c.(2446-2448)cGa>cAa	p.R816Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R816Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	816	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R816P(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTCACCTTCGAGGAGGCTAC	0.473000													21	37					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822554	19822554	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:19822554G>A	ENST00000344099.3	-	4	1674	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTGAAAAACTGAAGGTTTTAC	0.398000													25	66					0	0	1	0	0
PDHB	5162	broad.mit.edu	37	3	58413871	58413871	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:58413871G>A	ENST00000302746.6	-	10	1012	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	PDHB_ENST00000474765.1_Missense_Mutation_p.S346L|PDHB_ENST00000485460.1_Missense_Mutation_p.R306C	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	324					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	CCAGTGACACGAACAGCAGGA	0.468000													18	36					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110889358	110889358	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:110889358C>T	ENST00000316534.4	-	17	1781	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	NPHP1_ENST00000417665.1_Missense_Mutation_p.E513K|NPHP1_ENST00000393272.3_Missense_Mutation_p.E569K|NPHP1_ENST00000355301.4_Missense_Mutation_p.E451K|NPHP1_ENST00000445609.2_Missense_Mutation_p.E514K			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	569					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATTAATGTTTCTGGCAGTAGA	0.313000													6	13					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34936330	34936330	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:34936330G>A	ENST00000382021.2	+	4	624	c.397G>A	c.(397-399)Gat>Aat	p.D133N	DNAJC21_ENST00000342382.4_Missense_Mutation_p.D133N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D133N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	133					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGAGGTTGATGATTTCCCAAC	0.318000													16	45					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033228	117033228	+	Silent	SNP	G	G	C	rs149902444	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:117033228G>C	ENST00000371876.1	-	6	3879	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	KLHL13_ENST00000469946.1_Silent_p.L486L|KLHL13_ENST00000540167.1_Silent_p.L521L|KLHL13_ENST00000539496.1_Silent_p.L540L|KLHL13_ENST00000262820.3_Silent_p.L537L|KLHL13_ENST00000541812.1_Silent_p.L521L|KLHL13_ENST00000371878.1_Silent_p.L486L|KLHL13_ENST00000371882.1_Silent_p.L486L|KLHL13_ENST00000545703.1_Silent_p.L495L			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	537					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				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						CAATGACATAGAGCCTTTCTC	0.463000													99	96					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083184	152083184	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:152083184C>T	ENST00000368804.1	-	2	2508	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	837					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTCCTCTTCCTCCAGG	0.677000													18	60					0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20716932	20716932	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:20716932C>T	ENST00000241125.3	-	2	672	c.496G>A	c.(496-498)Ggc>Agc	p.G166S		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	166					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AAGTACTGGCCGGCGATGAAG	0.652000													16	64					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195610085	195610085	+	Silent	SNP	G	G	A	rs56289265		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:195610085G>A	ENST00000333602.6	-	5	1169	c.552C>T	c.(550-552)ctC>ctT	p.L184L	TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.L247L|TNK2_ENST00000428187.1_Silent_p.L216L|TNK2_ENST00000316664.3_Silent_p.L184L|TNK2_ENST00000392400.1_Silent_p.L184L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	184	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TTCGGTGGTCGAGCGAGTGCA	0.647000													27	72					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975168	20975168	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:20975168G>A	ENST00000261383.3	-	53	10037	c.10038C>T	c.(10036-10038)atC>atT	p.I3346I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3346					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATGTACTTGATGCGCAGAT	0.483000													6	104					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18197303	18197303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:18197303C>T	ENST00000388870.2	+	11	1226	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	KDM1B_ENST00000397244.1_Nonsense_Mutation_p.Q197*|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Nonsense_Mutation_p.Q197*			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	329	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCTTACTCCTCAGAAATGTAT	0.383000													30	100					0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41858786	41858786	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:41858786G>A	ENST00000221930.5	-	1	1030	c.164C>T	c.(163-165)tCc>tTc	p.S55F	TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	55					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CCGCAGCTTGGACAGGATCTG	0.721000													4	8					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48817687	48817687	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:48817687G>C	ENST00000505658.1	+	3	376	c.187G>C	c.(187-189)Gat>Cat	p.D63H	LUC7L3_ENST00000544170.1_5'UTR|LUC7L3_ENST00000393227.2_Missense_Mutation_p.D63H|LUC7L3_ENST00000240304.1_Missense_Mutation_p.D63H			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	63					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAATTCATGATGAAAATCT	0.328000													10	17					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941839	153941839	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:153941839G>A	ENST00000368607.3	+	4	717	c.451G>A	c.(451-453)Gat>Aat	p.D151N	CREB3L4_ENST00000368603.1_Missense_Mutation_p.D151N|CREB3L4_ENST00000368601.1_Missense_Mutation_p.D151N|CREB3L4_ENST00000405694.3_Missense_Mutation_p.D4N|CREB3L4_ENST00000271889.4_Missense_Mutation_p.D151N|CREB3L4_ENST00000368600.3_Missense_Mutation_p.D131N	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	151					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATGGTGCCTGATTCCTGCAT	0.572000													40	97					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121726296	121726296	+	Missense_Mutation	SNP	G	G	A	rs145779352		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:121726296G>A	ENST00000452319.1	+	6	710	c.650G>A	c.(649-651)cGt>cAt	p.R217H	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R217H			P10070	GLI2_HUMAN	GLI family zinc finger 2	217					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACAGTGTCCCGTTTCTCCAGC	0.647000													35	95					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971177	21971177	+	Missense_Mutation	SNP	C	C	T	rs121913382		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:21971177C>T	ENST00000579755.1	-	2	516	c.224G>A	c.(223-225)gGa>gAa	p.G75E	CDKN2A_ENST00000304494.5_Missense_Mutation_p.E61K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E61K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E10K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E10K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G116E|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E61K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E61K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E10K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E10K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E10K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G75E			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	51					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.E61*(10)|p.E61fs*80(2)|p.E61fs*49(2)|p.V59fs*82(2)|p.E61fs*54(1)|p.0(1)|p.V28_V51del(1)|p.V59fs*45(1)|p.G116fs*>53(1)|p.V59_G67del(1)|p.A57fs*85(1)|p.E61fs*55(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCAGCAGCTCCGCCACTCGG	0.672000	E61*(A375_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	18					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852018	20852018	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:20852018G>A	ENST00000262715.5	-	25	3634	c.3594C>T	c.(3592-3594)ttC>ttT	p.F1198F	TEP1_ENST00000556935.1_Silent_p.F1090F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1198	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAAAGTGGAAGAAGACTAATG	0.542000													8	13					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133257723	133257723	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:133257723C>T	ENST00000320574.5	-	2	248		c.e2+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTAGTGCTTACAGGATGCATG	0.517000								DNA polymerases (catalytic subunits)					26	52					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82267559	82267559	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:82267559C>G	ENST00000376520.4	+	7	1270	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V	TLE4_ENST00000376552.2_Missense_Mutation_p.L148V|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.L123V|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.L148V|TLE4_ENST00000376537.4_Missense_Mutation_p.L148V	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	28										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCCCGTACCTCTGACTCCACA	0.547000													37	104					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360362	71360362	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:71360362G>T	ENST00000373677.1	+	2	3128	c.1866G>T	c.(1864-1866)caG>caT	p.Q622H	NHSL2_ENST00000535692.1_Missense_Mutation_p.Q622H|NHSL2_ENST00000510661.1_Missense_Mutation_p.Q757H|NHSL2_ENST00000540800.1_Missense_Mutation_p.Q988H			F5H593	F5H593_HUMAN	NHS-like 2	988										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TTAGCCTCCAGAGCCAGGAAG	0.532000													13	7					5.50884e-06	5.65043e-06	1	1	0
SP110	3431	broad.mit.edu	37	2	231079726	231079726	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:231079726G>A	ENST00000258381.6	-	3	332	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SP110_ENST00000258382.5_Silent_p.F85F|SP110_ENST00000392048.3_Silent_p.F85F|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000540870.1_Silent_p.F91F|SP110_ENST00000358662.4_Silent_p.F85F	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	85	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TAATTTGACTGAACAATGTCA	0.408000													21	29					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50396016	50396016	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:50396016C>T	ENST00000266025.3	-	1	1025	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	160					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGGCACTCGCAGGACCAC	0.662000													12	25					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80704433	80704433	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:80704433C>G	ENST00000458043.2	+	29	3355	c.3349C>G	c.(3349-3351)Caa>Gaa	p.Q1117E	OTOGL_ENST00000547103.1_Missense_Mutation_p.Q1117E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAGGCACATCAAAACAAATT	0.333000													14	41					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164728	15164728	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:15164728G>A	ENST00000427043.3	+	4	670	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CASP14_ENST00000221740.1_Missense_Mutation_p.R121Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	121					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CAGGCCCTGCGAGCTAAGCCC	0.527000													30	79					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375700	113375700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:113375700C>T	ENST00000316407.4	-	7	5239	c.4829G>A	c.(4828-4830)aGa>aAa	p.R1610K	KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1610K|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1610					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACCTTGCTGTCTGCTTCCAAC	0.453000													24	45					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025414	16025414	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:16025414C>T	ENST00000402119.4	-	10	1738	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	CYP4F11_ENST00000326742.8_Intron|CYP4F11_ENST00000591841.1_Missense_Mutation_p.E113K|CYP4F11_ENST00000248041.8_Missense_Mutation_p.E438K	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGCACTACCTCAGGGTCTGGC	0.537000													36	96					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868471	58868471	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:58868471G>A	ENST00000311044.3	-	3	719	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Silent_p.L177L	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GGTGGTGGATGAGCTGCGAGT	0.677000													6	24					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33168220	33168220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:33168220G>A	ENST00000374680.3	-	1	245	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	RXRB_ENST00000413614.2_5'UTR|RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Nonsense_Mutation_p.Q12*	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	12	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCATGCCGCTGAGGGAGGAAG	0.652000													4	8					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270990	65270990	+	RNA	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:65270990G>T	ENST00000534336.1	+	0	5758					NR_002819.2																						GGAATAGCATGATGTGCTGTT	0.299000													10	56					9.31168e-06	9.54335e-06	1	1	0
NBEAL1	65065	broad.mit.edu	37	2	204055101	204055101	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:204055101C>G	ENST00000449802.1	+	45	7156	c.6823C>G	c.(6823-6825)Caa>Gaa	p.Q2275E		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2275	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACACCCTGTCAATTATTAAA	0.333000													13	27					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974125	64974125	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:64974125G>A	ENST00000399262.2	-	8	2020	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S382F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S419F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S382F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	601					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			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)					ACTTAAAGGAGAAATGTAAGA	0.363000													14	17					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295616	62295616	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62295616C>G	ENST00000378024.4	-	5	6547	c.6273G>C	c.(6271-6273)gtG>gtC	p.V2091V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2091					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCAAGGCTCACATCTGGGA	0.537000													84	179					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36053455	36053455	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:36053455A>T	ENST00000262623.3	-	4	330	c.302T>A	c.(301-303)gTc>gAc	p.V101D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	101					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCGAACTTGACGTACTCTGG	0.692000													7	21					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38102911	38102911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:38102911G>T	ENST00000592533.1	+	5	1062	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF540_ENST00000589117.1_Nonsense_Mutation_p.E212*|ZNF540_ENST00000316433.4_Nonsense_Mutation_p.E244*|ZNF540_ENST00000343599.5_Nonsense_Mutation_p.E244*	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAACCCTATGAATGTCAAGA	0.358000													7	24					0.0293803	0.0295656	1	1	0
NUP153	9972	broad.mit.edu	37	6	17629227	17629227	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:17629227G>A	ENST00000262077.2	-	18	3202	c.3203C>T	c.(3202-3204)tCa>tTa	p.S1068L	NUP153_ENST00000537253.1_Missense_Mutation_p.S1099L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1068					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTAGCTTCTGATGTCTTACA	0.473000													14	87					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	984734	984734	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:984734G>A	ENST00000379370.2	+	25	4467	c.4417G>A	c.(4417-4419)Gag>Aag	p.E1473K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1473	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGTGGATGGTGAGACCCCTGT	0.706000													13	31					0	0	1	0	0
RPRM	56475	broad.mit.edu	37	2	154335019	154335019	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:154335019C>T	ENST00000325926.3	-	1	303	c.61G>A	c.(61-63)Gag>Aag	p.E21K	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	21					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						TCCAGCGCCTCGCTGCTGTTG	0.711000													12	25					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195954608	195954608	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:195954608C>T	ENST00000296327.5	+	4	571	c.362C>T	c.(361-363)tCg>tTg	p.S121L		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACCATCACCTCGTGAGTGCCC	0.622000													14	47					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063541	247063541	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:247063541C>T	ENST00000366508.1	-	10	1499	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	AHCTF1_ENST00000326225.3_Missense_Mutation_p.E429K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E420K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	420	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-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)			TGTAGATATTCTCCTGACCTA	0.338000													15	42					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129725644	129725644	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:129725644G>C	ENST00000281441.3	+	4	515	c.427G>C	c.(427-429)Gac>Cac	p.D143H	TMEM45B_ENST00000524567.1_Missense_Mutation_p.D143H	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	143						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCCTCCGCTGGACCAGCACAT	0.542000													58	119					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123641434	123641434	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:123641434C>G	ENST00000606320.1	-	24	3678	c.3472G>C	c.(3472-3474)Gaa>Caa	p.E1158Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E1006Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1128Q|MPHOSPH9_ENST00000302349.5_Intron			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1006					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTAATCCTTTCCAAACGATCT	0.368000													18	18					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128587910	128587910	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:128587910C>T	ENST00000402030.2	+	7	939	c.867C>T	c.(865-867)ttC>ttT	p.F289F	IRF5_ENST00000357234.5_Silent_p.F305F|IRF5_ENST00000249375.4_Silent_p.F289F|IRF5_ENST00000473745.1_Silent_p.F289F|IRF5_ENST00000477535.1_Silent_p.F203F	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	289					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGAACTCTTCGGCCCCATAA	0.657000													20	52					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31336683	31336683	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:31336683C>T	ENST00000544665.3	+	20	2537	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	ITGAM_ENST00000287497.8_Silent_p.F821F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	821					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCACCTTCTTCTTCCCGCTTG	0.587000													14	32					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033251	41033251	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:41033251C>G	ENST00000380620.4	+	5	1357	c.765C>G	c.(763-765)atC>atG	p.I255M	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.I255M|B3GALT5_ENST00000343118.4_Missense_Mutation_p.I255M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.I255M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GGCTGAACATCAGATTGGAGG	0.552000													44	93					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589633	108589633	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:108589633C>T	ENST00000332082.4	+	3	842	c.24C>T	c.(22-24)ttC>ttT	p.F8F	WSCD2_ENST00000261400.3_Silent_p.F8F|WSCD2_ENST00000549903.1_Silent_p.F8F|WSCD2_ENST00000547525.1_Silent_p.F8F			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	8						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGTTCAAATTCCAGCGGTACT	0.577000													25	69					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12463854	12463854	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:12463854C>G	ENST00000242804.4	-	4	735	c.153G>C	c.(151-153)aaG>aaC	p.K51N	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGTACAGACTCTTCTGTGATG	0.433000													25	97					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924890	34924890	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:34924890A>T	ENST00000356577.4	+	3	3828	c.3353A>T	c.(3352-3354)tAt>tTt	p.Y1118F	SON_ENST00000381679.4_Missense_Mutation_p.Y1118F|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.Y1118F|SON_ENST00000290239.6_Missense_Mutation_p.Y1118F	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1118	14 X 6 AA repeats of [ED]-R-S-M-M-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGTCATCTTATACTGCTGAT	0.468000													30	71					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21960318	21960318	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:21960318T>A	ENST00000261200.4	-	36	4410	c.4411A>T	c.(4411-4413)Att>Ttt	p.I1471F	ABCC9_ENST00000261201.4_Missense_Mutation_p.I1471F|ABCC9_ENST00000345162.2_Missense_Mutation_p.I1435F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1471	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATCCATAATAAGAATGCTG	0.423000													30	91					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068471	89068471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:89068471G>A	ENST00000286614.6	-	8	1539	c.1258C>T	c.(1258-1260)Caa>Taa	p.Q420*		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	420	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TAACCAGGTTGAAGAGTTGTA	0.358000													16	33					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574076	41574076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:41574076C>T	ENST00000263253.7	+	31	7580	c.6361C>T	c.(6361-6363)Cag>Tag	p.Q2121*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2121	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATGCCAGGTCAGCAGGGGGT	0.627000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				29	69					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67040706	67040706	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:67040706C>T	ENST00000340001.4	-	5	716	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	ABCA9_ENST00000370732.2_Missense_Mutation_p.E169K|ABCA9_ENST00000453985.2_Missense_Mutation_p.E169K|ABCA9_ENST00000495634.1_Missense_Mutation_p.E169K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	169					transport	integral to membrane	ATP binding|ATPase activity			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)					TCTGAACCTTCACACTTCATT	0.358000													5	25					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650997	232650997	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:232650997G>C	ENST00000366630.1	-	2	447	c.89C>G	c.(88-90)tCa>tGa	p.S30*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.S30*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	30					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATAATCATCTGACTGCATGAT	0.463000													16	49					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15513614	15513614	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:15513614G>A	ENST00000341776.2	+	16	3655	c.3411G>A	c.(3409-3411)agG>agA	p.R1137R	JARID2_ENST00000397311.3_Silent_p.R965R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1137					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGTCAGAGAGGAGGTGTCAGA	0.642000													37	32					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85693023	85693023	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:85693023G>A	ENST00000526033.1	-	15	1835	c.1519C>T	c.(1519-1521)Ctc>Ttc	p.L507F	PICALM_ENST00000356360.5_Missense_Mutation_p.L514F|PICALM_ENST00000393346.3_Missense_Mutation_p.L514F|PICALM_ENST00000528398.1_Missense_Mutation_p.L413F|PICALM_ENST00000532317.1_Missense_Mutation_p.L464F	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	514					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTTGGTTTGAGAAGTCCACCT	0.418000			T	"""MLLT10, MLL"""	"""TALL, AML, """								13	42					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060224	68060224	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:68060224C>T	ENST00000204961.4	+	5	1548	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	256					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TCATCATCATCTTCCTGACGG	0.622000													3	21					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66488626	66488626	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:66488626G>A	ENST00000533211.1	-	3	417	c.86C>T	c.(85-87)cCt>cTt	p.P29L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P29L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P29L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	29	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCGAGTCAGGAAGGTCCCA	0.592000													37	84					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572352	47572352	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:47572352C>T	ENST00000253048.5	-	14	2432	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	799							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CACGTGCCTTCCTCATTCTCC	0.672000													75	170					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55214800	55214800	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:55214800C>G	ENST00000337526.6	-	4	3291	c.3048G>C	c.(3046-3048)aaG>aaC	p.K1016N	RTN4_ENST00000402434.2_Missense_Mutation_p.K169N|RTN4_ENST00000357732.4_Missense_Mutation_p.K216N|RTN4_ENST00000357376.3_Missense_Mutation_p.K810N|RTN4_ENST00000394611.2_Missense_Mutation_p.K810N|RTN4_ENST00000405240.1_Missense_Mutation_p.K810N|RTN4_ENST00000394609.2_Missense_Mutation_p.K23N|RTN4_ENST00000404909.1_Missense_Mutation_p.K810N|RTN4_ENST00000354474.6_Missense_Mutation_p.K784N|RTN4_ENST00000317610.7_Missense_Mutation_p.K197N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1016	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCACTCCAGTCTTCTTAATGT	0.403000													14	19					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	629861	629861	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:629861C>G	ENST00000588649.2	-	3	585	c.501G>C	c.(499-501)ctG>ctC	p.L167L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	167					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTTGCTCAGGAGCCGGG	0.692000													12	23					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134334714	134334714	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:134334714C>T	ENST00000357304.4	+	10	1430	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	PRRC2B_ENST00000405995.1_Missense_Mutation_p.H459Y|PRRC2B_ENST00000458550.1_Missense_Mutation_p.H459Y|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	459							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGAAGCTTCATGGCTGGGC	0.597000													11	31					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32672326	32672326	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:32672326G>C	ENST00000537469.1	+	3	690	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	IQCC_ENST00000291358.6_Missense_Mutation_p.E135Q|RP4-622L5.7_ENST00000421616.1_RNA	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	135										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCAGCCAAGAGAAGACCAG	0.537000													31	66					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124011850	124011850	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:124011850G>C	ENST00000274008.4	+	14	2399	c.2330G>C	c.(2329-2331)aGg>aCg	p.R777T	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CGTCCAGATAGGATAGACAAG	0.373000													21	50					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211320015	211320015	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:211320015G>C	ENST00000443314.1	-	3	565	c.223C>G	c.(223-225)Ctt>Gtt	p.L75V	LANCL1_ENST00000233714.4_Missense_Mutation_p.L75V|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.L75V|LANCL1_ENST00000450366.2_Missense_Mutation_p.L75V|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.L75V			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	75						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACATCATAAAGATGTAAGTAA	0.383000													15	16					0	0	1	0	0
COQ9	57017	broad.mit.edu	37	16	57481479	57481479	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:57481479G>A	ENST00000262507.6	+	1	131	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	COQ9_ENST00000567933.1_Missense_Mutation_p.R21Q|COQ9_ENST00000567072.1_Missense_Mutation_p.R21Q	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	21					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTGCAGCTGCGATGCCTGCCC	0.751000													3	6					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206649690	206649690	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:206649690G>A	ENST00000367120.3	+	6	898	c.525G>A	c.(523-525)ggG>ggA	p.G175G	IKBKE_ENST00000537984.1_Silent_p.G90G	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	175	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CGGTCTATGGGACTGAGGAGT	0.632000													28	99					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52535546	52535546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:52535546G>T	ENST00000216286.5	-	1	166	c.167C>A	c.(166-168)tCa>tAa	p.S56*	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	56						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACCACGGCTGAGCTTTCGTC	0.622000													26	89					1.39806e-14	1.49149e-14	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40011329	40011329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40011329C>A	ENST00000319121.3	-	2	850	c.790G>T	c.(790-792)Gag>Tag	p.E264*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	264	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AAGAGAACCTCTTCAGAATCA	0.358000													10	33					2.17888e-05	2.22772e-05	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27094386	27094386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:27094386G>T	ENST00000324856.7	+	11	3465	c.3094G>T	c.(3094-3096)Gag>Tag	p.E1032*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1032*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E649*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1032	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCTTCACTGAGGAGAAGGC	0.507000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								37	127					1.08052e-11	1.13659e-11	1	1	0
PI16	221476	broad.mit.edu	37	6	36927062	36927062	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:36927062G>C	ENST00000373674.3	+	2	641	c.313G>C	c.(313-315)Gag>Cag	p.E105Q		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	105						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCATGGAGGAGTGGCACCA	0.692000													3	11					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27375555	27375555	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:27375555G>A	ENST00000296096.5	+	3	595		c.e3-1			NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23						cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTCTTGCAGAAGTGGCCGA	0.562000													10	33					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35717979	35717979	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:35717979G>A	ENST00000411850.1	+	3	290	c.165G>A	c.(163-165)aaG>aaA	p.K55K	TOM1_ENST00000382034.5_5'UTR|TOM1_ENST00000449058.2_Silent_p.K55K|TOM1_ENST00000425375.1_Silent_p.K55K|TOM1_ENST00000447733.1_Silent_p.K22K|TOM1_ENST00000436462.2_Intron	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	55	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GAGCAGTAAAGAAGAGAATCG	0.522000													24	82					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156096651	156096651	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156096651C>T	ENST00000368297.1	+	2	160	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	LMNA_ENST00000368301.2_Intron|LMNA_ENST00000448611.2_Intron|LMNA_ENST00000361308.4_Intron|LMNA_ENST00000392353.3_Silent_p.L20L|LMNA_ENST00000473598.2_Intron|LMNA_ENST00000368299.3_Intron|LMNA_ENST00000368300.4_Intron|LMNA_ENST00000347559.2_Intron	NM_001282624.1	NP_001269553.1	P02545	LMNA_HUMAN	lamin A/C	0	Head.|Interaction with MLIP.				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			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GACTGGCACTCTGCTGGCACA	0.637000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				13	15					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925509	133925509	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:133925509C>T	ENST00000220616.4	+	20	4417	c.4377C>T	c.(4375-4377)tgC>tgT	p.C1459C	TG_ENST00000377869.1_Splice_Site_p.C1459C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1459					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTGGGATGCGGTAGGTCCA	0.567000													19	33					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139277971	139277971	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:139277971C>T	ENST00000298532.2	-	15	2018	c.1650G>A	c.(1648-1650)gcG>gcA	p.A550A		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	550					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCCGGCCTGCGCCTGCTCTG	0.672000													3	10					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575078	4575078	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:4575078C>G	ENST00000301396.4	-	16	3865	c.3640G>C	c.(3640-3642)Gag>Cag	p.E1214Q	PELP1_ENST00000572293.1_Missense_Mutation_p.E1120Q|PELP1_ENST00000436683.2_Missense_Mutation_p.E846Q|PELP1_ENST00000269230.7_Missense_Mutation_p.E980Q|PELP1_ENST00000574876.1_Missense_Mutation_p.E1070Q			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1070					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCCATCCTCAGTCTCCTCT	0.607000													10	23					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107283	21107283	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:21107283C>T	ENST00000255882.6	-	25	2981	c.2895G>A	c.(2893-2895)gaG>gaA	p.E965E	PI4KA_ENST00000572273.1_Silent_p.E907E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	907					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAGCGTGCCGCTCCAGCTCCT	0.527000													30	81					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79791990	79791990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:79791990C>T	ENST00000335016.5	+	11	1451	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q429*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	429	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GGGACCTCCTCAGCAGCCGCC	0.468000													20	29					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818727	99818727	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:99818727C>T	ENST00000317271.2	+	6	1197	c.834C>T	c.(832-834)ccC>ccT	p.P278P	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	278						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCACACCCATCCCTGCAC	0.672000													15	39					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41601388	41601388	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:41601388G>A	ENST00000216237.5	+	1	180	c.22G>A	c.(22-24)Gag>Aag	p.E8K	L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	8					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			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						CCGGAGTATTGAGGTGAGAAG	0.607000													36	85					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24518661	24518661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:24518661G>A	ENST00000355123.4	-	14	1950	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q503*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q503*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	503					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATCTGCTGATGTTTGCCA	0.328000													15	31					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602449	5602449	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:5602449G>C	ENST00000345043.2	+	1	343	c.343G>C	c.(343-345)Gat>Cat	p.D115H	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTCCTTTGATGGCTGCCT	0.512000													18	54					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30681765	30681765	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:30681765G>C	ENST00000534862.1	+	12	1495	c.1132G>C	c.(1132-1134)Gct>Cct	p.A378P	HCK_ENST00000518730.1_Missense_Mutation_p.A376P|HCK_ENST00000375862.2_Missense_Mutation_p.A397P|HCK_ENST00000538448.1_Missense_Mutation_p.A377P|HCK_ENST00000375852.2_Missense_Mutation_p.A398P|HCK_ENST00000520553.1_Missense_Mutation_p.A377P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	398	Protein kinase.			I -> T (in Ref. 6; AAI13855).	interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGTAAGATTGCTGACTTTGG	0.567000													18	68					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427284	104427284	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:104427284G>A	ENST00000297579.5	+	1	343	c.66G>A	c.(64-66)acG>acA	p.T22T	SLC25A32_ENST00000297578.4_5'UTR|SLC25A32_ENST00000543107.1_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGGGACCAACGAGAGGACTCT	0.687000													16	33					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35707202	35707202	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:35707202C>T	ENST00000314888.9	-	37	5175	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.E1608K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1608	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCACTCTCTAACATTGTC	0.642000													42	76					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69746301	69746301	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:69746301G>C	ENST00000409085.4	-	12	1658	c.1282C>G	c.(1282-1284)Ctg>Gtg	p.L428V	AAK1_ENST00000406297.3_Missense_Mutation_p.L428V|AAK1_ENST00000409068.1_Missense_Mutation_p.L428V	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	428	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GTTTGCGGCAGAGGCTGGCTG	0.607000													3	5					0	0	1	0	0
SCIMP	388325	broad.mit.edu	37	17	5118222	5118222	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:5118222G>C	ENST00000574081.1	-	4	385	c.281C>G	c.(280-282)tCt>tGt	p.S94C	SCIMP_ENST00000571800.1_Missense_Mutation_p.S87C|RP11-333E1.1_ENST00000571689.1_RNA|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.S94C|SCIMP_ENST00000399600.4_Missense_Mutation_p.S87C	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	94						integral to membrane											ATACTTACAAGAGTCTTCTAG	0.363000													15	35					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15729981	15729981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:15729981G>A	ENST00000378076.3	-	3	753	c.400C>T	c.(400-402)Cag>Tag	p.Q134*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	134					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCAAACCACTGATTGGATTTG	0.418000													21	91					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118869200	118869200	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:118869200G>A	ENST00000334418.1	+	2	237	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	61										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GCCCGAACACGAGCGATGCTG	0.682000													7	22					0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900715	28900715	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:28900715G>A	ENST00000528584.1	+	0	162					NR_036443.1																						ACTGGTGGAGGAGGTGGTGGC	0.612000													26	51					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139279208	139279208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:139279208C>A	ENST00000298532.2	-	13	1752	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	462	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ATTAACTGTTCCTCTTCTTTT	0.338000													8	37					5.4927e-09	5.70259e-09	1	1	0
BEGAIN	57596	broad.mit.edu	37	14	101004312	101004312	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:101004312G>T	ENST00000556751.1	-	5	4988	c.1584C>A	c.(1582-1584)ctC>ctA	p.L528L	BEGAIN_ENST00000355173.2_Silent_p.L592L|BEGAIN_ENST00000443071.2_Silent_p.L592L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	592						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCGCTCAGTTGAGCAAGGTTC	0.721000													9	17					0.000442599	0.000449642	1	1	0
CPEB4	80315	broad.mit.edu	37	5	173317475	173317475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:173317475C>T	ENST00000265085.5	+	1	2193	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	CPEB4_ENST00000519835.1_Nonsense_Mutation_p.Q247*|CPEB4_ENST00000520867.1_Nonsense_Mutation_p.Q247*|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.Q247*	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	247							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCCAGCATCAGCAGCAAAG	0.532000													27	51					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934477	68934477	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:68934477C>G	ENST00000356291.2	-	7	673	c.614G>C	c.(613-615)aGa>aCa	p.R205T	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	205					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTGGACAATTCTTTGAGTAGA	0.478000													15	56					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924697	150924697	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:150924697C>G	ENST00000261800.5	-	9	6003	c.5991G>C	c.(5989-5991)ttG>ttC	p.L1997F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1997	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGTCATTCAAATGATTGC	0.488000													30	27					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461957	5461957	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:5461957C>T	ENST00000345221.3	-	4	2613	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	NLRP1_ENST00000572272.1_Missense_Mutation_p.E687K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.E687K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E687K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E687K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E687K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	687					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAGATGTTCTCCATCTCTCTC	0.552000													38	93					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37183261	37183261	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:37183261C>A	ENST00000274258.7	-	26	5252	c.1665G>T	c.(1663-1665)atG>atT	p.M555I	C5orf42_ENST00000508244.1_Missense_Mutation_p.M1674I|C5orf42_ENST00000425232.2_Missense_Mutation_p.M1674I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1674										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATAATCCACTCATTCCTTCAT	0.313000													10	24					0.0581538	0.0583824	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35513813	35513813	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:35513813G>T	ENST00000317991.5	+	17	2043	c.1851G>T	c.(1849-1851)gtG>gtT	p.V617V	GRAMD1A_ENST00000504615.2_Intron|GRAMD1A_ENST00000599564.1_Intron|GRAMD1A_ENST00000411896.2_Intron|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	617						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATCTGTGTGAGGTAGGGTC	0.706000													3	11					0.004672	0.00471632	1	1	0
PEX14	5195	broad.mit.edu	37	1	10689948	10689948	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:10689948G>A	ENST00000356607.4	+	9	1118	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	PEX14_ENST00000538836.1_Silent_p.Q282Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	346					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGTGCAGAGGGAGGACC	0.657000													17	55					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72606943	72606943	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:72606943C>G	ENST00000272427.6	-	19	2167	c.2037G>C	c.(2035-2037)ttG>ttC	p.L679F		NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	679					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AAAGTTGCATCAAGGATGTGG	0.453000													12	24					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33508913	33508913	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:33508913C>G	ENST00000360596.2	+	10	1459	c.1248C>G	c.(1246-1248)ctC>ctG	p.L416L	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.L429L|ACSS2_ENST00000336325.4_Silent_p.L366L	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	416					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCGTCTGCTCATGAAGTTTG	0.542000													72	161					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449797	91449797	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:91449797C>T	ENST00000266719.3	-	2	509	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	88					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AATGGCTTTTCAGGAATGGTT	0.358000													14	30					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60795042	60795042	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:60795042C>G	ENST00000335670.6	-	8	1200	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.R312T|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.R392T|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.R400T	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	400	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|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|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCACATTCTGATAAACAC	0.458000													95	167					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	174077	174077	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:174077G>C	ENST00000283426.6	+	16	3248	c.3198G>C	c.(3196-3198)ttG>ttC	p.L1066F		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1066	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ACAGTGGCTTGAGGTTTGAGA	0.537000													18	17					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57193662	57193662	+	Translation_Start_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:57193662G>C	ENST00000395123.2	-	0	288				SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_De_novo_Start_OutOfFrame|SLC43A3_ENST00000352187.1_De_novo_Start_OutOfFrame|SLC43A3_ENST00000529554.1_De_novo_Start_OutOfFrame|SLC43A3_ENST00000395124.1_De_novo_Start_OutOfFrame	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3						transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AAGTGGAGTGGATCTTCAAAT	0.592000													17	40					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226555921	226555921	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:226555921C>T	ENST00000366794.5	-	16	2399	c.2256G>A	c.(2254-2256)ctG>ctA	p.L752L	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	752	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTGCATTGTTCAGGAGCGGAG	0.577000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					27	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433944	179433944	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:179433944C>G	ENST00000589042.1	-	326	77139	c.76915G>C	c.(76915-76917)Gag>Cag	p.E25639Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16699Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23071Q|TTN_ENST00000342175.6_Missense_Mutation_p.E16766Q|TTN_ENST00000591111.1_Missense_Mutation_p.E23998Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16574Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23998	Ig-like 125.						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)			TCACGTTTCTCAACAATGTAA	0.373000													46	152					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210948797	210948797	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:210948797G>A	ENST00000367007.4	-	10	2093	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	KCNH1_ENST00000271751.4_Silent_p.L669L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	669					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATCACATGCAGATCACAGTAG	0.517000													27	62					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8062158	8062158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:8062158C>T	ENST00000223145.5	+	3	1212	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	219										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGGTCACATCAGCGTTCTGC	0.368000													21	38					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563608	55563608	+	Missense_Mutation	SNP	G	G	A	rs144571267	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:55563608G>A	ENST00000335605.1	+	1	577	c.577G>A	c.(577-579)Gat>Aat	p.D193N		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D193N(1)|p.D193Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCTGGCTCTGATATACTCAT	0.433000													47	131					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137222919	137222919	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:137222919C>G	ENST00000239926.4	+	10	1716	c.1342C>G	c.(1342-1344)Ctt>Gtt	p.L448V	MYOT_ENST00000515645.1_Missense_Mutation_p.L333V|MYOT_ENST00000421631.2_Missense_Mutation_p.L264V|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	448	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAACCAAACTCTTCCAGCTCC	0.378000													25	29					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92357586	92357586	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:92357586C>T	ENST00000267620.10	-	7	890	c.721G>A	c.(721-723)Gag>Aag	p.E241K	FBLN5_ENST00000556154.1_Missense_Mutation_p.E205K|FBLN5_ENST00000342058.4_Missense_Mutation_p.E200K			Q9UBX5	FBLN5_HUMAN	fibulin 5	200	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTTCCATCCTCATTGAGGGTA	0.473000													16	41					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605872	101605872	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:101605872G>C	ENST00000284395.5	+	33	5621	c.5221G>C	c.(5221-5223)Gag>Cag	p.E1741Q	LRRK1_ENST00000388948.3_Missense_Mutation_p.E1744Q|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1744					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCAGCTCTGAGGGCAGAGG	0.622000													21	56					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31939164	31939164	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:31939164C>T	ENST00000375349.3	-	2	700	c.289G>A	c.(289-291)Gag>Aag	p.E97K	DXO_ENST00000478221.1_Intron|DXO_ENST00000375356.3_Missense_Mutation_p.E97K|DXO_ENST00000337523.5_Missense_Mutation_p.E97K					decapping exoribonuclease	97																	TGGACCTCCTCGTCCCGGGGC	0.627000													30	54					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136045663	136045663	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:136045663C>T	ENST00000471595.1	+	11	1127	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	PCCB_ENST00000478469.1_Intron|PCCB_ENST00000251654.4_Missense_Mutation_p.S370L|PCCB_ENST00000468777.1_Missense_Mutation_p.S401L|PCCB_ENST00000490504.1_Missense_Mutation_p.S313L|PCCB_ENST00000483687.1_Missense_Mutation_p.S351L|PCCB_ENST00000482086.1_Missense_Mutation_p.S254L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000466072.1_Missense_Mutation_p.S390L|PCCB_ENST00000469217.1_Missense_Mutation_p.S390L|PCCB_ENST00000462637.1_Missense_Mutation_p.S347L			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	370	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GATATTAATTCATCTGTGAAA	0.418000													24	79					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45844773	45844773	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:45844773G>A	ENST00000397928.1	+	24	4033	c.3588G>A	c.(3586-3588)agG>agA	p.R1196R	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.R1176R|TRPM2_ENST00000397932.2_Silent_p.R1246R|TRPM2_ENST00000300482.5_Silent_p.R1196R|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1196						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGATCGTGAGGACGCTGCGGG	0.662000													9	15					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98307646	98307646	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:98307646C>A	ENST00000264193.2	-	4	1082	c.864G>T	c.(862-864)ttG>ttT	p.L288F		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	288						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTCTTGATTCAAGTATGTTG	0.438000													17	27					2.35188e-11	2.46581e-11	1	1	0
PKD1	5310	broad.mit.edu	37	16	2167660	2167660	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:2167660G>T	ENST00000262304.4	-	6	1423	c.1215C>A	c.(1213-1215)ctC>ctA	p.L405L	PKD1_ENST00000423118.1_Silent_p.L405L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	405					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGAGGGGCAGAGCGGGTGCA	0.682000													7	14					0.0381472	0.0383575	1	1	0
MUC16	94025	broad.mit.edu	37	19	9000463	9000463	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:9000463C>T	ENST00000397910.4	-	54	40724	c.40521G>A	c.(40519-40521)acG>acA	p.T13507T	MUC16_ENST00000380951.5_Silent_p.T148T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13509	SEA 10.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T13507T(1)|p.T192T(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						GGACTCTCTCCGTGGTGTTAA	0.507000													37	84					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40010049	40010049	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40010049C>G	ENST00000319121.3	-	2	2130	c.2070G>C	c.(2068-2070)gaG>gaC	p.E690D		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	690						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GACGATGTATCTCTTGCATCT	0.507000													48	98					0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7910977	7910977	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:7910977G>T	ENST00000377516.2	-	3	429	c.109C>A	c.(109-111)Cat>Aat	p.H37N	UTS2_ENST00000054668.5_Missense_Mutation_p.H52N|UTS2_ENST00000361696.5_Missense_Mutation_p.H37N			O95399	UTS2_HUMAN	urotensin 2	37					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTCTTCATGAGGTGCTACA	0.463000													14	52					1.36491e-13	1.45249e-13	1	1	0
RADIL	55698	broad.mit.edu	37	7	4917720	4917720	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:4917720C>T	ENST00000399583.3	-	2	238	c.51G>A	c.(49-51)ctG>ctA	p.L17L	RADIL_ENST00000536091.1_Silent_p.L17L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	17					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCTGCCGCTTCAGTTTGCTCT	0.587000													5	9					0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667687	82667687	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:82667687C>G	ENST00000297265.4	+	3	644	c.451C>G	c.(451-453)Caa>Gaa	p.Q151E		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	151	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGCATTTTCTCAACGGGTTGG	0.403000													19	49					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156843618	156843618	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156843618C>G	ENST00000368196.3	+	8	1164	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L	NTRK1_ENST00000392302.2_Silent_p.L318L|NTRK1_ENST00000358660.3_Silent_p.L348L|NTRK1_ENST00000524377.1_Silent_p.L348L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	348	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTCTGCGCCTCAACCAGCCCA	0.617000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			6	14					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53133432	53133432	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:53133432G>A	ENST00000607203.1	-	1	37	c.38C>T	c.(37-39)tCa>tTa	p.S13L	RFT1_ENST00000394738.3_Silent_p.F352F|RFT1_ENST00000296292.3_Silent_p.F391F																							CAGCAAATGTGAAACACTCTG	0.468000													17	53					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899385	133899385	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:133899385G>A	ENST00000220616.4	+	9	1808	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	TG_ENST00000377869.1_Missense_Mutation_p.D590N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	590					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGTGCCAGAAGATGTGGCAAG	0.468000													32	71					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85435720	85435720	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:85435720C>G	ENST00000359152.5	-	1	3351	c.3352G>C	c.(3352-3354)Gag>Cag	p.E1118Q	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E594Q|SYTL2_ENST00000354566.3_Missense_Mutation_p.E594Q|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AAAGCACTCTCAGTTATTAAC	0.443000													8	36					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63810739	63810739	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:63810739G>A	ENST00000279873.7	+	5	1236	c.826G>A	c.(826-828)Gat>Aat	p.D276N	ARID5B_ENST00000309334.5_Missense_Mutation_p.D33N	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	276					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAACAATTCCGATGGCAAAGC	0.423000													23	21					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66599265	66599265	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:66599265G>C	ENST00000319194.5	+	3	409	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	DIS3L_ENST00000319212.4_Missense_Mutation_p.E133Q|DIS3L_ENST00000441424.2_5'UTR	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	133					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGAAAGAGGAGAGTCCATGGA	0.478000													6	43					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763168	92763168	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:92763168G>C	ENST00000318238.4	-	5	3333	c.2117C>G	c.(2116-2118)tCt>tGt	p.S706C	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706C|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706C	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	706										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCTGAAGAATAGTTTTC	0.323000													13	32					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300263	101300263	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:101300263G>A	ENST00000519449.1	-	3	456	c.140C>T	c.(139-141)tCt>tTt	p.S47F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S47F	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	47					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGATGAAGCAGAGGACTGAAG	0.413000													13	26					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5958616	5958616	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:5958616C>G	ENST00000378896.3	+	13	1867	c.1490C>G	c.(1489-1491)tCt>tGt	p.S497C	MCM8_ENST00000265187.4_Missense_Mutation_p.S481C|MCM8_ENST00000378883.1_Missense_Mutation_p.S450C|MCM8_ENST00000378886.2_Missense_Mutation_p.S537C	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	497	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATAGTTCCTCTGGAGATTTT	0.478000													13	30					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48780691	48780691	+	Splice_Site	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:48780691C>A	ENST00000316623.5	-	26	3538		c.e26-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATTGATATCTTCAAGAATA	0.448000													20	60					1.1804e-14	1.26034e-14	1	1	0
ZBTB4	57659	broad.mit.edu	37	17	7366829	7366829	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:7366829C>G	ENST00000311403.4	-	4	1811	c.1472G>C	c.(1471-1473)gGa>gCa	p.G491A	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G491A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	491	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACTCCCCCCTCCACCACTGCT	0.637000													3	12					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47841418	47841418	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:47841418C>T	ENST00000240364.2	-	1	111	c.32G>A	c.(31-33)gGa>gAa	p.G11E	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	11										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ccaggcacctccgcctctgcc	0.816000													4	8					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48866199	48866199	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:48866199G>T	ENST00000314191.2	-	7	758	c.702C>A	c.(700-702)ttC>ttA	p.F234L	PRKDC_ENST00000338368.3_Missense_Mutation_p.F234L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	234					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			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)				TGGACTTAGTGAAGTTGCACA	0.393000								Non-homologous end-joining					6	10					3.59834e-05	3.67312e-05	1	1	0
RFX5	5993	broad.mit.edu	37	1	151314685	151314685	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:151314685C>T	ENST00000290524.4	-	11	2006	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	RFX5_ENST00000452513.2_Missense_Mutation_p.D570N|RFX5_ENST00000368870.2_Missense_Mutation_p.D610N|RFX5_ENST00000452671.2_Missense_Mutation_p.D610N	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	610						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D610N(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTTTTGGGTCTTTATGCTCC	0.463000													21	53					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203668709	203668709	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:203668709G>C	ENST00000357681.5	+	4	1636	c.513G>C	c.(511-513)tgG>tgC	p.W171C	ATP2B4_ENST00000391954.2_Missense_Mutation_p.W171C|ATP2B4_ENST00000341360.2_Missense_Mutation_p.W171C|ATP2B4_ENST00000367219.3_Missense_Mutation_p.W171C|ATP2B4_ENST00000367218.3_Missense_Mutation_p.W171C	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	171					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTAATGATTGGAGCAAAGAGA	0.517000													49	95					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	19004313	19004313	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:19004313G>C	ENST00000427170.2	-	2	392	c.321C>G	c.(319-321)ctC>ctG	p.L107L	GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000542296.2_Silent_p.L9L|CERS1_ENST00000429504.2_Silent_p.L107L	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	107	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						CCAGGTAGAAGAGAAACTTCC	0.617000													8	16					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90124773	90124773	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:90124773G>A	ENST00000405460.2	+	77	16477	c.16381G>A	c.(16381-16383)Gaa>Aaa	p.E5461K	GPR98_ENST00000425867.2_Missense_Mutation_p.E1122K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5461	Calx-beta 35.				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)		ACCACAGGTTGAAGTGTATTT	0.308000													8	14					0	0	1	0	0
CCNYL1	151195	broad.mit.edu	37	2	208606962	208606962	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:208606962G>C	ENST00000295414.3	+	7	746	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	CCNYL1_ENST00000339882.5_Missense_Mutation_p.E128Q|CCNYL1_ENST00000392209.3_Missense_Mutation_p.E109Q			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	179	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AAAAGTTCCAGAGGAATACTT	0.323000													12	10					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035763	86035763	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:86035763G>A	ENST00000414626.2	+	6	1875	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R349Q			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	349					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGTTCCTCGAAGATCAAAA	0.333000													16	39					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21875391	21875391	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:21875391G>C	ENST00000429584.2	+	1	1287	c.789G>C	c.(787-789)aaG>aaC	p.K263N	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	263	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	p.K263K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GCTGCGAAAAGATGTTCCGGG	0.488000													196	67					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910743	14910743	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:14910743G>T	ENST00000248073.2	-	1	280	c.206C>A	c.(205-207)gCt>gAt	p.A69D	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	69					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ACAGAGGTCAGCAAAAGACAG	0.463000													25	61					9.04412e-07	9.31398e-07	1	1	0
SLC9B2	133308	broad.mit.edu	37	4	103964585	103964585	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:103964585C>G	ENST00000394785.3	-	9	1645	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N	SLC9B2_ENST00000503103.1_Missense_Mutation_p.K281N|SLC9B2_ENST00000339611.4_Missense_Mutation_p.K338N|SLC9B2_ENST00000503230.1_Missense_Mutation_p.K281N|SLC9B2_ENST00000362026.3_Missense_Mutation_p.K338N	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	338					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GGAATGTTCTCTTACACACAA	0.388000													10	28					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25019798	25019798	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:25019798C>T	ENST00000400382.1	+	11	1690	c.935C>T	c.(934-936)aCg>aTg	p.T312M	GGT1_ENST00000406383.2_Missense_Mutation_p.T312M|GGT1_ENST00000400380.1_Missense_Mutation_p.T312M|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.T312M|GGT1_ENST00000248923.4_Missense_Mutation_p.T312M			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	312					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AAGGGCCTGACGTACCACCGC	0.612000													22	37					0	0	1	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24506961	24506961	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:24506961C>T	ENST00000558293.1	+	0	176					NR_102693.1																						GGATCGGCTTCGCCGTCGCCC	0.612000													22	41					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	882848	882848	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:882848G>C	ENST00000456758.2	+	7	631	c.631G>C	c.(631-633)Gat>Cat	p.D211H	SUN1_ENST00000389574.3_Missense_Mutation_p.D103H|SUN1_ENST00000457378.2_Missense_Mutation_p.D174H|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Missense_Mutation_p.D103H|SUN1_ENST00000401592.1_Missense_Mutation_p.D153H|SUN1_ENST00000403868.1_Missense_Mutation_p.D153H|SUN1_ENST00000405266.1_Missense_Mutation_p.D153H			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	153	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAGGTCTTGATGATGATGG	0.284000													10	33					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3659117	3659117	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:3659117G>A	ENST00000382622.3	+	3	667	c.277G>A	c.(277-279)Gag>Aag	p.E93K	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.E84K	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	93					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAAGGATGAGGTGCGGAC	0.512000													55	128					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150907010	150907010	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:150907010C>T	ENST00000329903.4	+	1	88	c.55C>T	c.(55-57)Cat>Tat	p.H19Y		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	19					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAACCATCATGCACCTCC	0.512000													66	32					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33886999	33886999	+	Silent	SNP	C	C	T	rs142166776		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:33886999C>T	ENST00000307296.3	+	12	1937	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	PDCD6IP_ENST00000457054.2_Silent_p.I525I			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	520	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GTGACACCATCGTGCTTTTGT	0.468000													23	51					0	0	1	0	0
ARX	170302	broad.mit.edu	37	X	25025278	25025278	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:25025278G>A	ENST00000379044.4	-	4	1608	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	466	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CTGCCGCTCCGAGGAAAGTGC	0.697000													16	2					0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35684256	35684256	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:35684256G>A	ENST00000378292.3	-	8	1961	c.759C>T	c.(757-759)atC>atT	p.I253I	TPM2_ENST00000360958.2_Silent_p.I253I|TPM2_ENST00000329305.2_Silent_p.I253I|TPM2_ENST00000378300.5_Silent_p.I253I	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	253					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTAGGTCATCGATGGTTTTCT	0.483000													15	38					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6535141	6535141	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:6535141C>G	ENST00000377748.1	-	6	996	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E146Q|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E169Q|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E167Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E127Q|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E159Q	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	146					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACGATCTCTGTCTCAATG	0.572000													55	153					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891480	6891480	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:6891480C>A	ENST00000307322.4	+	1	557	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCACTTCTTCTGTGACAGCC	0.542000													44	101					2.68985e-26	2.91591e-26	1	1	0
DST	667	broad.mit.edu	37	6	56469714	56469714	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:56469714G>A	ENST00000370754.5	-	39	9612	c.9613C>T	c.(9613-9615)Ctt>Ttt	p.L3205F	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.L2701F|DST_ENST00000312431.6_Missense_Mutation_p.L3027F|DST_ENST00000370769.4_Missense_Mutation_p.L3027F|DST_ENST00000361203.3_Missense_Mutation_p.L3027F|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3027					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGTCATTAAGAGGTGAGTCT	0.373000													14	35					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832752	49832752	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:49832752C>T	ENST00000396822.1	-	3	685	c.328G>A	c.(328-330)Gag>Aag	p.E110K	SNAI2_ENST00000020945.1_Missense_Mutation_p.E110K			O43623	SNAI2_HUMAN	snail family zinc finger 2	110					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGTCTTTCCTCTTCATCACTA	0.483000													53	111					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56257915	56257915	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:56257915G>A	ENST00000327216.2	-	1	956	c.932C>T	c.(931-933)tCt>tTt	p.S311F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGATTTTTAAGAAAAGTATAT	0.303000													4	15					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915676	136915676	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:136915676G>A	ENST00000303407.7	-	5	719	c.534C>T	c.(532-534)tcC>tcT	p.S178S	BRD3_ENST00000357885.2_Silent_p.S178S|BRD3_ENST00000371834.2_Silent_p.S178S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	178						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGTCGCTGGGGAGACAGAGG	0.597000			T	C15orf55	lethal midline carcinoma of young people								18	92					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30834721	30834721	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:30834721G>A	ENST00000256079.4	-	4	692	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	118					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATGTTTTATGATGGCACGGA	0.383000													8	25					0	0	1	0	0
TEX29	121793	broad.mit.edu	37	13	111992271	111992271	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:111992271C>G	ENST00000283547.1	+	4	360	c.231C>G	c.(229-231)atC>atG	p.I77M		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	77						integral to membrane											TCATCACCATCATCTACAGGT	0.547000													74	119					0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72533553	72533553	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:72533553G>T	ENST00000321297.5	+	6	813	c.675G>T	c.(673-675)ctG>ctT	p.L225L	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	225					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCCAGGAGCTGAAGAAGGCTG	0.687000													19	40					5.26018e-13	5.57448e-13	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793481	4793481	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:4793481C>T	ENST00000269856.3	+	1	1754	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	539					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTTCACCCCTCTGCACATGGC	0.642000													40	97					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297076	62297076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62297076C>A	ENST00000378024.4	-	5	5087	c.4813G>T	c.(4813-4815)Gaa>Taa	p.E1605*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1605					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTCTCCTTCCACTTTGGGA	0.413000													23	56					3.08376e-08	3.19381e-08	1	1	0
RBP3	5949	broad.mit.edu	37	10	48390440	48390440	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:48390440C>T	ENST00000224600.4	-	1	551	c.438G>A	c.(436-438)atG>atA	p.M146I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	146	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTCCCCCATCATGCTCAGCA	0.647000													35	41					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109356991	109356991	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:109356991G>C	ENST00000283195.6	+	7	955	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	277					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGAAATGATGAACTGTCAGC	0.363000													58	177					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508425	123508425	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:123508425C>G	ENST00000223026.4	+	3	736	c.98C>G	c.(97-99)tCt>tGt	p.S33C	HYAL4_ENST00000476325.1_Missense_Mutation_p.S33C	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	33					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGTCTATCTCTTGTCTAAAA	0.333000													17	42					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993266	140993266	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:140993266C>T	ENST00000285879.4	+	4	362	c.76C>T	c.(76-78)Cct>Tct	p.P26S	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	26							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTTGTCCTGAGGGGGA	0.562000										HNSCC(15;0.026)			6	79					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100806449	100806449	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:100806449G>A	ENST00000249330.2	-	2	1915	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	VGF_ENST00000445482.2_Missense_Mutation_p.S559L	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	559					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCAAGGCCGAGGGCGGCTG	0.746000													19	34					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610332	78610332	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:78610332C>T	ENST00000396137.4	+	9	2779	c.2317C>T	c.(2317-2319)Ctc>Ttc	p.L773F	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	773					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTCATTACCTCTCAGTGGTGT	0.463000													44	61					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31971229	31971229	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:31971229G>A	ENST00000432498.1	+	10	1328	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	SFI1_ENST00000414585.1_Missense_Mutation_p.R159Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R159Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R230Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R312Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R230Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R288Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	312					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ATGGCTGAGCGATTCCATCAT	0.507000													18	54					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475048	7475048	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:7475048G>A	ENST00000399422.4	+	7	1084	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	346					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTGCTTGACCGGAGGGGAGCC	0.498000													22	41					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19492955	19492955	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:19492955G>A	ENST00000407835.1	+	11	1031	c.775G>A	c.(775-777)Gag>Aag	p.E259K	CDC45_ENST00000263201.1_Missense_Mutation_p.E259K|CDC45_ENST00000404724.3_Missense_Mutation_p.E213K|CDC45_ENST00000437685.2_Missense_Mutation_p.E291K			O75419	CDC45_HUMAN	cell division cycle 45	259					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAACGAGGATGAGGAGAACAC	0.557000													4	40					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156929813	156929813	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:156929813C>G	ENST00000257527.4	-	12	1384	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	ADAM19_ENST00000430702.2_Missense_Mutation_p.E169Q|ADAM19_ENST00000517905.1_Missense_Mutation_p.E436Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.E438Q	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	436	Disintegrin.|Poly-Glu.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCTCACCTCTTCTTCTCCA	0.483000													65	75					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319444	21319444	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:21319444C>T	ENST00000583088.1	+	3	1685	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	KCNJ12_ENST00000331718.5_Silent_p.L264L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											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)		CCGCATCTTTCTGGTGTCGCC	0.612000										Prostate(3;0.18)			23	75					0	0	1	0	0
NADK2	133686	broad.mit.edu	37	5	36219779	36219779	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:36219779G>A	ENST00000397338.1	-	5	295	c.74C>T	c.(73-75)tCt>tTt	p.S25F	NADK2_ENST00000282512.3_Missense_Mutation_p.S25F|NADK2_ENST00000506945.1_Missense_Mutation_p.S25F|NADK2_ENST00000514504.1_Missense_Mutation_p.S188F|NADK2_ENST00000381937.4_Missense_Mutation_p.S188F					NAD kinase 2, mitochondrial																		ATGACCCTCAGACCTATATTT	0.343000													15	25					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116094291	116094291	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:116094291G>A	ENST00000374193.4	-	3	258	c.12C>T	c.(10-12)ctC>ctT	p.L4L	WDR31_ENST00000341761.4_Silent_p.L4L|WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	4										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTTGGCACCTGAGTAGCAGCA	0.403000													10	30					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124618415	124618415	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:124618415C>G	ENST00000403470.1	-	6	777	c.722G>C	c.(721-723)cGa>cCa	p.R241P	VSIG2_ENST00000326621.5_Missense_Mutation_p.R241P			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	241						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCGGCCACTCGGCCTTGGGA	0.607000													12	61					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47322148	47322148	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47322148C>T	ENST00000285093.10	-	4	891	c.416G>A	c.(415-417)gGa>gAa	p.G139E	ACAA2_ENST00000587994.1_Missense_Mutation_p.G136E|ACAA2_ENST00000589432.1_Missense_Mutation_p.G84E	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	139					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						GATATCTGATCCAAGCTTGGT	0.338000													13	29					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38818249	38818249	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:38818249C>G	ENST00000476049.1	-	2	185	c.144G>C	c.(142-144)ttG>ttC	p.L48F	KRT222_ENST00000394052.3_Missense_Mutation_p.L48F			Q8N1A0	KT222_HUMAN	keratin 222	48						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GAGCTGCCTTCAAAGCCTCTT	0.443000													37	115					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362583	105362583	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:105362583C>T	ENST00000369774.4	-	15	2668	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.E633K|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.E665K|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.E770K			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	798					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGAATCCTCACTCTTGGAG	0.637000													107	100					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236737981	236737981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:236737981G>A	ENST00000366582.3	-	23	3421	c.3307C>T	c.(3307-3309)Cag>Tag	p.Q1103*	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1103					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			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)			GCTGTGATCTGAATGGTTGGC	0.383000													20	42					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51690924	51690924	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:51690924G>A	ENST00000267012.4	-	8	688	c.627C>T	c.(625-627)atC>atT	p.I209I	BIN2_ENST00000604560.1_Silent_p.I182I|BIN2_ENST00000544402.1_Silent_p.I183I|BIN2_ENST00000452142.2_Silent_p.I177I	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	209	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGTTTTGGAAGATGGTCACAT	0.423000													18	21					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227504817	227504817	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:227504817C>A	ENST00000366769.3	-	1	1358	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.G23W|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.G23W|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.G23W|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.G23W|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.G23W|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.G23W	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	23					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAGCACTGCCCATTGGTCTGA	0.428000													23	44					4.26978e-12	4.49877e-12	1	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31854514	31854514	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:31854514C>T	ENST00000397525.1	-	7	1133	c.910G>A	c.(910-912)Gac>Aac	p.D304N	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.D141N|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.D304N|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.D304N	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	304						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGTCAAAGTCTCCTGGGGAC	0.493000													16	38					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76107373	76107373	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:76107373C>G	ENST00000238667.4	+	7	1667	c.1311C>G	c.(1309-1311)atC>atG	p.I437M	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.I152M|FLVCR2_ENST00000539311.1_Missense_Mutation_p.I232M	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	437					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGAAGGCATCTCCTCCGGCC	0.502000													20	75					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124232437	124232437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:124232437G>C	ENST00000276704.4	-	6	1100	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	350							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATTCTTCTGAGGATACAGT	0.413000													9	16					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117675	47117675	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:47117675C>G	ENST00000562435.1	-	9	1419	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	NETO2_ENST00000303155.5_Missense_Mutation_p.K338N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	345						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCCATGAGTCTTAGTGATTT	0.328000										HNSCC(25;0.065)			18	39					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107414394	107414394	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:107414394C>G	ENST00000340010.5	-	17	2162	c.1978G>C	c.(1978-1980)Gat>Cat	p.D660H	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	660	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAAGAAACATCAAGAAAGGAC	0.383000													9	28					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228494649	228494649	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:228494649G>A	ENST00000570156.2	+	56	14919	c.14845G>A	c.(14845-14847)Gag>Aag	p.E4949K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E1626K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3992K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3992K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1111K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3992	Ig-like 48.				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			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)				GGAGGTGGATGAGGGAGGCAC	0.662000													3	6					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993506	52993506	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:52993506C>T	ENST00000259803.7	-	6	1020	c.809G>A	c.(808-810)aGt>aAt	p.S270N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	270						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGTTCTGCTACTGGACAATTT	0.493000													21	46					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561623	127561623	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:127561623C>T	ENST00000373580.3	+	4	522	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	174										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGCGCCACCTCAGTGAGCAGT	0.607000													25	61					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	877552	877552	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:877552G>C	ENST00000342066.3	+	9	989	c.906G>C	c.(904-906)caG>caC	p.Q302H	SAMD11_ENST00000478729.1_3'UTR	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	302						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTCGCCGCAGAATGCCCCTC	0.741000													3	13					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122042677	122042677	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:122042677G>A	ENST00000263707.5	-	1	106	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	3	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCGTGTGCCAGAAGAGCATGG	0.756000													5	5					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676186	11676186	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:11676186G>A	ENST00000423059.4	-	2	844	c.593C>T	c.(592-594)tCt>tTt	p.S198F		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 2.					integral to membrane				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)		AGAAAATTCAGACACGATGCA	0.587000										HNSCC(18;0.044)			11	28					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799226	47799226	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47799226C>T	ENST00000591416.1	-	14	2115	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	MBD1_ENST00000587605.1_Missense_Mutation_p.E460K|MBD1_ENST00000382948.5_Missense_Mutation_p.E562K|MBD1_ENST00000457839.2_Missense_Mutation_p.E587K|MBD1_ENST00000349085.2_Missense_Mutation_p.E460K|MBD1_ENST00000269468.5_Missense_Mutation_p.E562K|MBD1_ENST00000339998.6_Missense_Mutation_p.E516K|MBD1_ENST00000590208.1_Missense_Mutation_p.E562K|MBD1_ENST00000347968.3_Missense_Mutation_p.E506K|MBD1_ENST00000585672.1_Missense_Mutation_p.E512K|MBD1_ENST00000398488.1_Missense_Mutation_p.E460K|MBD1_ENST00000591535.1_Missense_Mutation_p.E493K|MBD1_ENST00000398495.2_Missense_Mutation_p.E531K|MBD1_ENST00000424334.2_Missense_Mutation_p.E613K|MBD1_ENST00000436910.1_Missense_Mutation_p.E493K|MBD1_ENST00000398493.1_Missense_Mutation_p.E506K|MBD1_ENST00000585595.1_Missense_Mutation_p.E587K|MBD1_ENST00000353909.3_Missense_Mutation_p.E513K|MBD1_ENST00000269471.5_Missense_Mutation_p.E493K|MBD1_ENST00000588937.1_Missense_Mutation_p.E493K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	562	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GCCTCTTCCTCTGGGGCCAAT	0.607000													39	98					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018181	61018181	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:61018181G>C	ENST00000406396.3	-	6	940	c.549C>G	c.(547-549)ttC>ttG	p.F183L	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	183					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGTAGGCTGTGAAACCGAATA	0.512000													42	108					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292711	219292711	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:219292711C>T	ENST00000248444.5	+	5	459	c.371C>T	c.(370-372)tCt>tTt	p.S124F	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.S124F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	124	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCGTGGCTTCTGGCATGAAG	0.617000													74	94					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860796	27860796	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:27860796G>A	ENST00000359611.2	-	1	167	c.132C>T	c.(130-132)gtC>gtT	p.V44V	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CGCCGGCCCCGACCCGCTCAG	0.657000													35	71					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104042	168104042	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:168104042C>G	ENST00000409195.1	+	9	6229	c.6140C>G	c.(6139-6141)tCt>tGt	p.S2047C	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2047C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1825C|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1872					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAGACTATCTAATTCACAC	0.393000													11	29					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26091036	26091036	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:26091036C>G	ENST00000313735.6	-	21	2796	c.2563G>C	c.(2563-2565)Gag>Cag	p.E855Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	855	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTCTGTCTCTCAGGCTCTTCT	0.637000													12	29					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794657	30794657	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:30794657G>A	ENST00000262525.4	-	3	1199	c.992C>T	c.(991-993)tCg>tTg	p.S331L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S331*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTCAGCTCCGAGCTCTGGAT	0.627000													26	60					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44254803	44254803	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:44254803G>A	ENST00000601170.1	-	2	405	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	SMG9_ENST00000270066.6_Missense_Mutation_p.L31F			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	31					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GGCCCAGAGAGATTCTGGGGG	0.562000													51	90					0	0	1	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881473	111881473	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:111881473G>A	ENST00000393256.3	+	2	424	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000357757.2_Missense_Mutation_p.E51K|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000405953.1_Intron	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	51					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TCACGGAGGTGAAGGGGACAG	0.627000													31	43					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094809	9094809	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:9094809C>G	ENST00000383836.3	-	9	1652	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.E409Q	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	409					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTGACGGACTCTGTCGATCGA	0.488000			T	RAF1	pilocytic astrocytoma								21	58					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58204310	58204310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:58204310G>A	ENST00000537081.1	-	6	561	c.562C>T	c.(562-564)Cga>Tga	p.R188*	AVIL_ENST00000257861.3_Nonsense_Mutation_p.R195*			O75366	AVIL_HUMAN	advillin	195	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCCTGTCTCGAATATCCTTT	0.567000													34	72					0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46087920	46087920	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:46087920C>G	ENST00000263275.4	-	1	157	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	OPA3_ENST00000323060.3_Missense_Mutation_p.E35Q|OPA3_ENST00000544371.1_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	35					response to stimulus|visual perception	mitochondrion		p.E35*(2)		cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TTGAAGAACTCGCTTCGGCGG	0.587000													46	113					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748661	71748661	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:71748661C>T	ENST00000393524.2	-	1	771	c.38G>A	c.(37-39)aGa>aAa	p.R13K	PHLPP2_ENST00000356272.3_Missense_Mutation_p.R13K|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R13K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R48K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R13K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	13						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAACCTACTTCTCCTATTCAA	0.388000													7	8					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562856	95562856	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:95562856G>C	ENST00000526495.1	-	25	4692	c.4401C>G	c.(4399-4401)atC>atG	p.I1467M	DICER1_ENST00000527414.1_Missense_Mutation_p.I1467M|DICER1_ENST00000541352.1_Missense_Mutation_p.I1467M|DICER1_ENST00000343455.3_Missense_Mutation_p.I1467M|DICER1_ENST00000556045.1_Missense_Mutation_p.I365M|DICER1_ENST00000393063.1_Missense_Mutation_p.I1467M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1467					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GAGAAAGAGAGATTTTCTTTA	0.353000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				17	44					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737372	248737372	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:248737372G>A	ENST00000328782.2	-	1	708	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TCCTGTGGATGAGATGCAGGA	0.552000													44	196					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447338	24447338	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:24447338G>C	ENST00000270800.1	-	7	1720	c.1682C>G	c.(1681-1683)tCt>tGt	p.S561C		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	561						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCTGAAAAGAGAATCCAGTTC	0.597000													15	83					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603383	31603383	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:31603383G>A	ENST00000376033.2	+	24	5632	c.5398G>A	c.(5398-5400)Gag>Aag	p.E1800K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1800K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1800	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			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						ACGAGACTGGGAGCTGCTTCC	0.617000													24	64					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47799766C>T	ENST00000591416.1	-	13	1953	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.E508K|MBD1_ENST00000457839.2_Missense_Mutation_p.E533K|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.E508K|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000590208.1_Missense_Mutation_p.E508K|MBD1_ENST00000347968.3_Missense_Mutation_p.E452K|MBD1_ENST00000585672.1_Missense_Mutation_p.E458K|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398495.2_Missense_Mutation_p.E477K|MBD1_ENST00000424334.2_Missense_Mutation_p.E559K|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000398493.1_Missense_Mutation_p.E452K|MBD1_ENST00000585595.1_Missense_Mutation_p.E533K|MBD1_ENST00000353909.3_Missense_Mutation_p.E459K|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	508					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E533*(2)|p.E508*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGTCCACTCGTCCTGGGTA	0.607000													29	58					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791042	8791042	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:8791042C>G	ENST00000405863.1	+	3	1370	c.459C>G	c.(457-459)ttC>ttG	p.F153L	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.F36L	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	153	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GTGTTTATTTCAGGCATAATT	0.413000													13	34					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78285322	78285322	+	Translation_Start_Site	SNP	A	A	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:78285322A>C	ENST00000238561.5	+	2	100	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	ADCK1_ENST00000341211.5_Start_Codon_SNP_p.M1L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	1						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATCTGGCGACATGGCCAGAAA	0.438000													20	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066585	9066585	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:9066585C>T	ENST00000397910.4	-	3	21064	c.20861G>A	c.(20860-20862)aGa>aAa	p.R6954K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6956	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GCTGGTCTCTCTCAGTCCAGG	0.448000													42	81					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18634520	18634520	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:18634520G>T	ENST00000449552.2	+	5	1823	c.339G>T	c.(337-339)aaG>aaT	p.K113N	TRIM16L_ENST00000395902.3_Missense_Mutation_p.K167N|TRIM16L_ENST00000395671.4_Missense_Mutation_p.K113N|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395672.2_Missense_Mutation_p.K113N|TRIM16L_ENST00000571708.1_Missense_Mutation_p.K113N|TRIM16L_ENST00000572555.1_Missense_Mutation_p.K113N			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	113						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AGAACTATAAGAAAAAGCTCC	0.453000													29	57					1.62565e-12	1.7185e-12	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85707275	85707275	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:85707275C>T	ENST00000322366.6	-	24	4326	c.3919G>A	c.(3919-3921)Gaa>Aaa	p.E1307K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E1307K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1307						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			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)		ACCACCCCTTCGGATTTTGCA	0.378000													16	29					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096490	107096490	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:107096490C>T	ENST00000261058.1	+	1	303	c.56C>T	c.(55-57)tCa>tTa	p.S19L		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	19										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGTGGACTTCAAATCTCTCC	0.418000													41	67					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804375	21804375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:21804375G>A	ENST00000449193.2	-	4	4629	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.Q714*	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		GGAGGTGTCTGAAGGACAGGT	0.428000													31	88					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279706	32279706	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:32279706G>A	ENST00000360482.2	-	2	1358	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	SPOCD1_ENST00000373648.2_Missense_Mutation_p.S410L|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S410L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	410					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAATGGGCCTGAGCAGGCCCT	0.627000													6	26					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456783	25456783	+	RNA	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:25456783G>T	ENST00000424208.1	+	0	2414				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACTTGCATCAGGACCAATGGA	0.592000													7	12					0.00198382	0.00200899	1	1	0
FBF1	85302	broad.mit.edu	37	17	73909839	73909839	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:73909839G>A	ENST00000586717.1	-	27	3419	c.3146C>T	c.(3145-3147)tCt>tTt	p.S1049F	FBF1_ENST00000389570.4_Missense_Mutation_p.S1050F|FBF1_ENST00000319129.5_Missense_Mutation_p.S1049F			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	1049										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CACGAGGCTAGAGGGCAGGTC	0.662000													10	29					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46872020	46872020	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:46872020C>T	ENST00000243167.8	+	7	1015	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	311					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CACTGTGCCTCCCTTGCCCTT	0.657000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540252	113540252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:113540252G>A	ENST00000505019.1	-	6	1071	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	C4orf21_ENST00000309071.5_Nonsense_Mutation_p.Q316*|C4orf21_ENST00000445203.2_Nonsense_Mutation_p.Q285*	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	316										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTTCTGATTGATGCTGGTAG	0.373000													15	62					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868208	73868208	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:73868208G>A	ENST00000272425.3	-	2	697	c.548C>T	c.(547-549)tCt>tTt	p.S183F		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	183	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGCCATAGCAGAGAGCTGGAT	0.562000													18	58					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	428428	428428	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:428428C>T	ENST00000432829.2	+	35	4517	c.4201C>T	c.(4201-4203)Ctg>Ttg	p.L1401L	DOCK8_ENST00000453981.1_Silent_p.L1469L|DOCK8_ENST00000469391.1_Silent_p.L1369L|DOCK8_ENST00000382329.1_Silent_p.L936L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1469	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGTGAATTCTCTGAACTGTGA	0.512000													13	37					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789738	96789738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:96789738G>A	ENST00000342380.2	-	9	1146	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	383					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GACTGCTCCTGAGCAACACCG	0.627000													33	80					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21459805	21459805	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:21459805C>T	ENST00000607545.1	+	0	48					NR_027026.1																						TCAGACGCATCGGGACCGGAC	0.642000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	58					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629053	187629053	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:187629053C>T	ENST00000441802.2	-	2	2138	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	643	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTGATTCTCAGACTGTGGA	0.423000										HNSCC(5;0.00058)			7	33					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736677	12736677	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:12736677G>A	ENST00000380682.1	+	16	4238	c.3732G>A	c.(3730-3732)ggG>ggA	p.G1244G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1244					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTCCCTGGGGAAGCACTTGA	0.602000													93	43					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134146946	134146946	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:134146946G>C	ENST00000220616.4	+	48	8255	c.8215G>C	c.(8215-8217)Gag>Cag	p.E2739Q	TG_ENST00000542445.1_Missense_Mutation_p.E1109Q|TG_ENST00000519543.1_Missense_Mutation_p.E872Q|TG_ENST00000377869.1_Missense_Mutation_p.E2682Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2739					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGTCAGCAGAGAGTGAAGA	0.547000													19	56					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845742	49845742	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:49845742C>G	ENST00000377214.4	-	10	1554	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	TEAD2_ENST00000598810.1_Missense_Mutation_p.E399Q|TEAD2_ENST00000539846.1_Missense_Mutation_p.E267Q|TEAD2_ENST00000593945.1_Missense_Mutation_p.E399Q|TEAD2_ENST00000601519.1_Missense_Mutation_p.E398Q|TEAD2_ENST00000311227.2_Missense_Mutation_p.E395Q			Q15562	TEAD2_HUMAN	TEA domain family member 2	395	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATGTATCGCTCAGGCAGCTGC	0.607000													24	65					0	0	1	0	0
TMA7	51372	broad.mit.edu	37	3	48482013	48482013	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:48482013G>T	ENST00000438607.2	+	3	175	c.135G>T	c.(133-135)gcG>gcT	p.A45A	RP11-24C3.2_ENST00000438872.1_RNA	NM_015933.3	NP_057017.1			translation machinery associated 7 homolog (S. cerevisiae)											lung(1)	1						AGCTAAAAGCGAAGGCCGCGG	0.567000													4	19					2.56e-06	2.63214e-06	1	1	0
SLC5A2	6524	broad.mit.edu	37	16	31497544	31497544	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:31497544C>G	ENST00000330498.3	+	5	541	c.522C>G	c.(520-522)atC>atG	p.I174M		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	174					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTGGAACATCTATGCCTCCG	0.602000													29	81					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31358871	31358871	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:31358871G>C	ENST00000460581.2	+	10	1737	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	COCH_ENST00000475087.1_Intron|COCH_ENST00000382493.4_Silent_p.L360L|COCH_ENST00000396618.3_Silent_p.L509L|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Silent_p.L509L|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA			O43405	COCH_HUMAN	cochlin	509	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TGGATGACCTGAAAGATATGG	0.388000													10	29					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123920070	123920070	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:123920070G>C	ENST00000373855.1	+	29	4809	c.4549G>C	c.(4549-4551)Gaa>Caa	p.E1517Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.E965Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1517Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E965Q|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1517					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CAAGCAAGAAGAAATCTTGAA	0.408000													20	47					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654559	150654559	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:150654559G>C	ENST00000392968.2	-	3	1780	c.660C>G	c.(658-660)ctC>ctG	p.L220L	KCNH2_ENST00000430723.3_Silent_p.L316L|KCNH2_ENST00000262186.5_Silent_p.L316L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	316					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGGTGGAGTTGAGCAAGCCGC	0.637000													10	39					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91647672	91647672	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:91647672C>T	ENST00000518868.1	+	11	1563	c.873C>T	c.(871-873)atC>atT	p.I291I	C14orf159_ENST00000523771.1_Silent_p.I286I|C14orf159_ENST00000523816.1_Silent_p.I286I|C14orf159_ENST00000412671.2_Silent_p.I291I|C14orf159_ENST00000256324.10_Silent_p.I291I|C14orf159_ENST00000525393.2_Silent_p.I162I|C14orf159_ENST00000522322.1_Silent_p.I286I|C14orf159_ENST00000521077.2_Silent_p.I291I|C14orf159_ENST00000428926.2_Silent_p.I286I|C14orf159_ENST00000520328.1_Silent_p.I274I			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	286						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ACTACAGCATCGCGTCAGTCT	0.493000													28	42					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747216	62747216	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62747216C>T	ENST00000377871.3	-	7	1508	c.1242G>A	c.(1240-1242)gtG>gtA	p.V414V	SLC22A6_ENST00000458333.2_Silent_p.V414V|SLC22A6_ENST00000421062.2_Silent_p.V414V|SLC22A6_ENST00000360421.4_Silent_p.V414V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	414					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTGGGGTATCACCCCATTGA	0.612000													25	49					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68334824	68334824	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:68334824G>C	ENST00000297770.4	-	11	1444	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	CPA6_ENST00000297769.4_Missense_Mutation_p.P166R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	410					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GAGCATCTCTGGGAGTAAAAA	0.438000													35	72					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452517	58452517	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:58452517C>G	ENST00000282308.3	-	3	1855	c.1659G>C	c.(1657-1659)tgG>tgC	p.W553C	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	553					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAAGGATTTCCAACACTCAC	0.448000													12	38					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26890912	26890912	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:26890912G>C	ENST00000308360.7	-	4	675	c.300C>G	c.(298-300)atC>atG	p.I100M	PIGS_ENST00000543734.1_Missense_Mutation_p.I39M|PIGS_ENST00000395346.2_Missense_Mutation_p.I92M	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	100					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AACGGCATTTGATTTTCATTT	0.522000													45	89					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205110	61205110	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:61205110C>G	ENST00000301761.2	+	2	124	c.50C>G	c.(49-51)tCa>tGa	p.S17*	SDHAF2_ENST00000543265.1_Nonsense_Mutation_p.S17*|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000543044.1_Nonsense_Mutation_p.S5*|SDHAF2_ENST00000537782.1_Nonsense_Mutation_p.S17*|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000534878.1_Nonsense_Mutation_p.S17*	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	17					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CTTGCTCTGTCAAGGCACAGC	0.418000													42	110					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382149	68382149	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:68382149C>T	ENST00000361478.1	-	2	1310	c.933G>A	c.(931-933)gaG>gaA	p.E311E	PJA1_ENST00000374584.3_Silent_p.E123E|PJA1_ENST00000374571.4_Silent_p.E256E|PJA1_ENST00000374583.1_Silent_p.E311E	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	311							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CACTTGAACTCTCGCCTCTCC	0.547000													12	4					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155596208	155596208	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:155596208C>T	ENST00000297261.2	-	3	925	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	259					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCGCGGCTCCCGCGTCTCG	0.711000													3	9					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973721	44973721	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:44973721C>T	ENST00000340446.4	-	1	2761	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	824						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTACAGTTCAGGAGGACGT	0.393000													6	25					0	0	1	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357635	63357635	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:63357635C>T	ENST00000323646.5	-	3	678	c.324G>A	c.(322-324)ctG>ctA	p.L108L	PLA2G16_ENST00000415826.1_Silent_p.L108L|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	108					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TCTCACTGGTCAGCTTGTAGA	0.587000													26	103					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8217903	8217903	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:8217903G>A	ENST00000539824.1	+	6	693	c.319G>A	c.(319-321)Gag>Aag	p.E107K	SH3TC1_ENST00000245105.3_Missense_Mutation_p.E183K			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	183							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTTGCCCAGTGAGGAGGAGGA	0.607000													17	17					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25203475	25203475	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:25203475G>A	ENST00000360031.2	+	12	1226	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	ENTPD6_ENST00000433259.2_Splice_Site_p.A315A|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000376652.4_Splice_Site_p.A349A|ENTPD6_ENST00000354989.5_Splice_Site_p.A332A	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	349						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TGTCCCCAGCGGCAAGCCTGC	0.592000													41	94					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430566	57430566	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:57430566C>G	ENST00000442789.2	-	22	2551	c.2264G>C	c.(2263-2265)aGa>aCa	p.R755T	MYO1A_ENST00000544473.1_Missense_Mutation_p.R593T|MYO1A_ENST00000300119.3_Missense_Mutation_p.R755T	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	755	IQ 3.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTTCCACCCTCTCACAAAAGC	0.463000													55	130					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46404863	46404863	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:46404863C>T	ENST00000322217.5	-	2	255	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	57	Myb-like.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GCGATGCCGTCCCACACGCGC	0.667000											OREG0032108	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	8	29					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353621	133353621	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:133353621C>T	ENST00000204726.3	-	20	4336	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1260K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E1260K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1260	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCGGGCCTCGGCCAGCTCT	0.587000													12	49					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300208	99300208	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:99300208G>T	ENST00000408927.3	+	5	515	c.402G>T	c.(400-402)caG>caT	p.Q134H	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q135H|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q135H|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000512857.1_Intron	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	134							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTGGTGCACAGATTGTAATTG	0.378000			T	NUP98	T-ALL								19	63					1.50039e-11	1.57566e-11	1	1	0
SOX2	6657	broad.mit.edu	37	3	181430441	181430441	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:181430441G>A	ENST00000325404.1	+	1	720	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	SOX2_ENST00000431565.2_Missense_Mutation_p.R98Q	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	98					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			AAGCGGCTGCGAGCGCTGCAC	0.592000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						18	50					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2110177	2110177	+	Silent	SNP	G	G	T	rs11558401		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:2110177G>T	ENST00000355272.6	-	28	3428	c.3222C>A	c.(3220-3222)gtC>gtA	p.V1074V	AP3D1_ENST00000356926.4_Silent_p.V971V|AP3D1_ENST00000345016.5_Silent_p.V1012V|AP3D1_ENST00000350812.6_Silent_p.V843V	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1012					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCGCCATGACGATGCTCT	0.637000													33	72					4.0492e-12	4.26988e-12	1	1	0
AZI2	64343	broad.mit.edu	37	3	28378243	28378243	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:28378243C>T	ENST00000479665.1	-	5	1104	c.573G>A	c.(571-573)caG>caA	p.Q191Q	AZI2_ENST00000420543.2_Silent_p.Q191Q|AZI2_ENST00000334100.6_Silent_p.Q191Q|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000457172.1_Silent_p.Q191Q	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	191	Interaction with TBK1.					mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GTTTGGCTTTCTGTAGTTCTA	0.343000													17	15					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124799530	124799530	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:124799530C>T	ENST00000334705.7	+	13	1354	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	FAM91A1_ENST00000521166.1_Silent_p.L370L	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	370										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGCCTGAGTCTGTCTACAGG	0.403000													13	34					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175996740	175996740	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:175996740G>A	ENST00000367669.3	-	15	2211	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	RFWD2_ENST00000308769.8_Missense_Mutation_p.S542F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	566					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTATCTGGAAGAGGGGCTGAA	0.438000													15	37					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7559504	7559504	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:7559504C>G	ENST00000379802.3	+	4	809	c.468C>G	c.(466-468)atC>atG	p.I156M	DSP_ENST00000418664.2_Missense_Mutation_p.I156M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	156	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATAAAGCCATCAGTGTCCCTC	0.512000													36	205					0	0	1	0	0
PRR3	80742	broad.mit.edu	37	6	30529832	30529832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:30529832C>T	ENST00000376560.3	+	3	850	c.391C>T	c.(391-393)Cga>Tga	p.R131*	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Nonsense_Mutation_p.R110*	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	131							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						GAGAAACCCTCGAAGGCTCAA	0.547000													18	62					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2276671	2276671	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:2276671G>T	ENST00000268989.3	+	17	2141	c.1964G>T	c.(1963-1965)tGg>tTg	p.W655L	SGSM2_ENST00000426855.2_Missense_Mutation_p.W610L|SGSM2_ENST00000574563.1_Missense_Mutation_p.W610L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	610	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TTGGCAGAGTGGAAGGCCTGC	0.657000													17	55					5.01169e-05	5.10769e-05	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63058251	63058251	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:63058251G>A	ENST00000263991.5	+	7	1074	c.592G>A	c.(592-594)Gag>Aag	p.E198K	EHBP1_ENST00000405015.3_Missense_Mutation_p.E198K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E198K|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000431489.1_Missense_Mutation_p.E198K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E198K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	198						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATGATGATGAGAACAGAGT	0.348000													10	29					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678769	149678769	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:149678769G>C	ENST00000344229.3	+	11	1726	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	RNF13_ENST00000361785.6_Missense_Mutation_p.E223Q|RNF13_ENST00000392894.3_Missense_Mutation_p.E342Q	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	342					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCAGACTATGAGGAAGACGA	0.438000													14	30					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14943536	14943536	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:14943536G>A	ENST00000261167.2	-	10	1396	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	388					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTGCTGCTGTGAAGAAGCAGT	0.507000													18	49					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011119	40011119	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40011119C>G	ENST00000319121.3	-	2	1060	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	334						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TGTATATTCTCAGCTCTCAGA	0.473000													19	47					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049726	63049726	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:63049726C>T	ENST00000439174.2	-	2	649	c.404G>A	c.(403-405)gGa>gAa	p.G135E	GNA13_ENST00000541118.1_Missense_Mutation_p.G40E	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	135					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TTCCACCATTCCTTGGGCTGC	0.483000													29	60					0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80911320	80911320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:80911320G>T	ENST00000320672.4	-	4	464	c.254C>A	c.(253-255)tCa>tAa	p.S85*	SSBP2_ENST00000514493.1_Nonsense_Mutation_p.S85*|SSBP2_ENST00000509053.1_Nonsense_Mutation_p.S85*|SSBP2_ENST00000515395.1_Nonsense_Mutation_p.S85*|SSBP2_ENST00000505980.1_Nonsense_Mutation_p.S85*	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	85					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TGCTTCACTTGAGTGTTCACA	0.343000													8	10					0.0581538	0.0583824	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26313003	26313003	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:26313003G>A	ENST00000265944.5	+	9	950	c.784G>A	c.(784-786)Gac>Aac	p.D262N	MYO3A_ENST00000543632.1_Missense_Mutation_p.D262N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	262	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAATTCAATGACTTCATAAG	0.358000													26	98					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078593	10078593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:10078593G>C	ENST00000264828.3	-	61	4476	c.4391C>G	c.(4390-4392)tCa>tGa	p.S1464*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1464	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGACCCTTTTGAGCCTTTCTG	0.587000													40	107					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46783615	46783615	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:46783615C>T	ENST00000529230.1	-	32	4202	c.4156G>A	c.(4156-4158)Gca>Aca	p.A1386T	CKAP5_ENST00000415402.1_Missense_Mutation_p.A1386T|CKAP5_ENST00000354558.3_Missense_Mutation_p.A1386T|CKAP5_ENST00000312055.5_Missense_Mutation_p.A1386T			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1386					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTGTTGAGTGCAGCATTGCGT	0.453000													18	53					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161507449	161507449	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:161507449T>A	ENST00000392142.4	+	8	2559	c.2411T>A	c.(2410-2412)cTc>cAc	p.L804H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.L804H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L804H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L804H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	804					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTGAAGGAGCTCTTCCATGAA	0.438000													11	15					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32651297	32651297	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:32651297G>T	ENST00000266086.4	-	1	31	c.20C>A	c.(19-21)cCc>cAc	p.P7H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	7					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TATGGTGCTGGGGCTAACCGT	0.507000											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	71	241					3.71514e-35	4.03764e-35	1	1	0
SCEL	8796	broad.mit.edu	37	13	78187050	78187050	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:78187050C>G	ENST00000535157.1	+	21	1406	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	SCEL_ENST00000377246.3_Missense_Mutation_p.I434M|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000349847.3_Missense_Mutation_p.I454M	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	454	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAATCTTATCAAAGTGATCC	0.264000													13	18					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257008	69257008	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:69257008G>C	ENST00000439696.2	-	2	560	c.259C>G	c.(259-261)Cga>Gga	p.R87G	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R87G|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	87					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGCGGTCTCGGAAGCGGCTG	0.677000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	39					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140166601	140166601	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:140166601C>T	ENST00000343053.4	+	11	1751	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		CCTTGCGCTGCTGGCCGACGA	0.612000													31	52					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94461693	94461693	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:94461693C>T	ENST00000370225.3	-	49	6874	c.6788G>A	c.(6787-6789)cGa>cAa	p.R2263Q	ABCA4_ENST00000535881.1_Missense_Mutation_p.R382Q|ABCA4_ENST00000536513.1_Missense_Mutation_p.R533Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2263			R -> L (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R2263P(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCAGCAGCTCGAGGGTGCAG	0.527000													13	22					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387200	44387200	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:44387200C>T	ENST00000371477.3	+	9	1406	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	369	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAGAACCTCATGGCCCTCA	0.438000													13	34					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793746	52793746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:52793746G>A	ENST00000439461.1	+	4	745	c.702G>A	c.(700-702)tgG>tgA	p.W234*	ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Nonsense_Mutation_p.W249*|ZNF766_ENST00000593612.1_Nonsense_Mutation_p.W249*	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CAGAACATTGGAGAATTCGTA	0.443000													18	42					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298907	65298907	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:65298907C>A	ENST00000377990.2	+	3	880	c.677C>A	c.(676-678)tCc>tAc	p.S226Y	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S226Y|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.S226Y	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	226					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGGTCTCCTCCTCCCTGGAG	0.647000													20	59					1.96292e-10	2.04625e-10	1	1	0
MED12	9968	broad.mit.edu	37	X	70357410	70357410	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:70357410G>A	ENST00000374102.1	+	40	5808		c.e40-1		MED12_ENST00000333646.6_Silent_p.Q1920Q|MED12_ENST00000374080.3_Silent_p.Q1917Q			Q93074	MED12_HUMAN	mediator complex subunit 12						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			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)					CCCTTTAGCAGAGTCAGGGCA	0.498000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						5	4					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84367990	84367990	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:84367990C>T	ENST00000295488.3	-	4	1552	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	464	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAACCAACCTCGTCTACAACA	0.328000								Other identified genes with known or suspected DNA repair function					32	67					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122966529	122966529	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:122966529C>T	ENST00000543897.1	-	7	2479	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E280K|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E42K			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	280						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AATCTTTCTTCTACTTCTTCT	0.388000													10	19					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12302025	12302025	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:12302025G>C	ENST00000261349.4	-	14	3133	c.3057C>G	c.(3055-3057)ctC>ctG	p.L1019L	LRP6_ENST00000543091.1_Silent_p.L1019L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1019	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATCAATGCTGAGGTCATAGG	0.423000													82	187					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13059191	13059191	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:13059191C>T	ENST00000506447.1	+	21	4448	c.4368C>T	c.(4366-4368)ttC>ttT	p.F1456F	CEP192_ENST00000430049.2_Silent_p.F981F|CEP192_ENST00000325971.8_Silent_p.F860F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1051										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGGGGTTTTCAGATGCACAT	0.448000													36	36					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7319382	7319382	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:7319382C>G	ENST00000302926.2	+	6	1663	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	NLGN2_ENST00000575301.1_Silent_p.L530L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	530					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGTCATGCTCAGTGCCGTGG	0.632000													25	39					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156228931	156228931	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156228931G>A	ENST00000361813.5	-	16	2451	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	769					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAAAGCTGCGGATGCAGCAGA	0.612000													14	53					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934718	56934718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:56934718C>T	ENST00000333201.9	+	5	901	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.Q231*	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TACTCTTCATCAGAGAATTCA	0.383000													16	39					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50330208	50330208	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:50330208G>A	ENST00000336089.4	-	2	96	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	245							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGTCTGGGGACCATGGGAA	0.562000													25	80					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402682	38402682	+	RNA	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:38402682C>A	ENST00000426402.2	-	0	326																											GCCGTTACTTCCTTCAGCAAG	0.493000													35	60					6.97489e-18	7.49742e-18	1	1	0
SUN2	25777	broad.mit.edu	37	22	39144722	39144722	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:39144722C>T	ENST00000405510.1	-	8	1039	c.681G>A	c.(679-681)acG>acA	p.T227T	SUN2_ENST00000405018.1_Silent_p.T248T|SUN2_ENST00000216064.4_Silent_p.T227T|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Silent_p.T216T|SUN2_ENST00000406622.1_Silent_p.T227T	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	227					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCTCACCATACGTCAGGCACG	0.647000													59	125					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74828691	74828691	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:74828691C>G	ENST00000412021.2	-	6	709	c.376G>C	c.(376-378)Gat>Cat	p.D126H	P4HA1_ENST00000307116.2_Missense_Mutation_p.D126H|P4HA1_ENST00000373008.2_Missense_Mutation_p.D126H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D126H|P4HA1_ENST00000440381.1_Missense_Mutation_p.D126H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D126H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	126						endoplasmic reticulum lumen|mitochondrion	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-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAACCTGATCTTCATCATTA	0.373000													70	39					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115268894	115268894	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:115268894C>T	ENST00000438362.2	-	14	2094	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L	CSDE1_ENST00000261443.5_Silent_p.L495L|CSDE1_ENST00000534699.1_Silent_p.L526L|CSDE1_ENST00000358528.4_Silent_p.L526L|CSDE1_ENST00000530886.1_Silent_p.L396L|CSDE1_ENST00000369530.1_Silent_p.L541L|CSDE1_ENST00000339438.6_Silent_p.L495L	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	526	CSD 7.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTATCCTTCAGAGTTGCCA	0.408000													9	29					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14288452	14288452	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:14288452C>G	ENST00000340736.6	-	3	472	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	LPHN1_ENST00000361434.3_Missense_Mutation_p.E59Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	59	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCATTCTCCACCATGATG	0.632000													63	129					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86371723	86371723	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:86371723C>G	ENST00000410111.3	-	15	2332	c.1945G>C	c.(1945-1947)Gat>Cat	p.D649H	IMMT_ENST00000442664.2_Missense_Mutation_p.D648H|IMMT_ENST00000409051.2_Missense_Mutation_p.D602H|IMMT_ENST00000449247.2_Missense_Mutation_p.D638H|IMMT_ENST00000254636.5_Missense_Mutation_p.D550H	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	649						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTTTCATCAATCATTGCT	0.532000													32	60					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114290071	114290071	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:114290071G>C	ENST00000309235.5	+	2	554	c.396G>C	c.(394-396)caG>caC	p.Q132H	ZNF483_ENST00000374374.3_Missense_Mutation_p.Q132H|ZNF483_ENST00000358151.4_Missense_Mutation_p.Q132H|ZNF483_ENST00000355824.3_Missense_Mutation_p.Q132H	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	132	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTTGACCCAGATGCTTGAAG	0.438000													17	32					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555306	44555306	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:44555306G>A	ENST00000330682.2	-	1	1143	c.908C>T	c.(907-909)cCa>cTa	p.P303L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.P303Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGGAGCGCTGGCGCGGAGAG	0.637000													56	846					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464574	25464574	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:25464574C>T	ENST00000376351.3	+	1	584	c.225C>T	c.(223-225)gcC>gcT	p.A75A	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	75						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAAACTCGCCGAGGAGGTGC	0.687000													19	67					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33454098	33454098	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:33454098G>C	ENST00000158009.5	+	2	362	c.247G>C	c.(247-249)Gat>Cat	p.D83H		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	83										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CTGCAGCTCTGATGAGACCAG	0.562000													49	102					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18054746	18054746	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:18054746C>G	ENST00000205890.5	+	40	8030	c.7692C>G	c.(7690-7692)ctC>ctG	p.L2564L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2564	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACTCTACGCTCAACTCTGAGC	0.632000													29	83					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40085528	40085528	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:40085528C>T	ENST00000181839.4	+	6	3052	c.2447C>T	c.(2446-2448)tCa>tTa	p.S816L	CDK13_ENST00000340829.5_Missense_Mutation_p.S816L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	816	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACATAAAGTCATTTATGAGA	0.333000													28	70					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109325	101109325	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:101109325C>G	ENST00000273990.2	-	3	306		c.e3-1		RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like						negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TAGTCAAAATCTGTAAGAAAT	0.343000													8	23					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2591227	2591227	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:2591227G>A	ENST00000358864.1	+	12	1591	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	526						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCCCTGATGGATGACGTCCA	0.468000													3	19					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142720498	142720498	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:142720498C>G	ENST00000473835.2	+	1	118	c.28C>G	c.(28-30)Cag>Gag	p.Q10E	U2SURP_ENST00000493598.2_Missense_Mutation_p.Q10E|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	10					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGGCGGATCTCAGAAGGCCAG	0.577000													12	35					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880952	71880952	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:71880952G>A	ENST00000307864.1	-	4	523	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	AIFM2_ENST00000373248.1_Missense_Mutation_p.H104Y	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	104					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						AGGATAAGATGAGAGAAGGGC	0.527000													33	18					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754575	110754575	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:110754575C>T	ENST00000369787.3	+	1	481	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	KCNC4_ENST00000413138.3_Missense_Mutation_p.R152C|KCNC4_ENST00000438661.2_Missense_Mutation_p.R152C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	152					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGGCAGCACCGCGACGCCGA	0.716000													93	28					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141259401	141259401	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:141259401G>C	ENST00000286364.3	+	5	512	c.477G>C	c.(475-477)ctG>ctC	p.L159L	RASA2_ENST00000452898.1_Silent_p.L159L			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	159	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AATTAAAACTGAATGAACTGA	0.308000													11	23					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662186	24662186	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:24662186G>A	ENST00000530611.1	-	7	1295	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	TM9SF1_ENST00000261789.4_Missense_Mutation_p.S212L|TM9SF1_ENST00000528669.1_Missense_Mutation_p.S212L|TM9SF1_ENST00000524835.1_Missense_Mutation_p.S125L|TM9SF1_ENST00000396854.4_Missense_Mutation_p.S212L|TM9SF1_ENST00000556387.1_Missense_Mutation_p.S421L			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	212					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ACGCTCCACTGAAGTCTCAGA	0.547000													13	31					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138966756	138966756	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:138966756G>C	ENST00000473989.3	+	14	2073	c.2073G>C	c.(2071-2073)gtG>gtC	p.V691V	UBN2_ENST00000288561.8_Silent_p.V608V	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTTAGGAGGTGATGGTAAAGA	0.353000													16	51					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750868	50750868	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:50750868G>A	ENST00000300589.2	+	6	2718	c.2613G>A	c.(2611-2613)caG>caA	p.Q871Q		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	871					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CATGCAGGCAGAACTTCTTGG	0.488000													43	100					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205819036	205819036	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:205819036C>T	ENST00000367136.4	-	1	209	c.165G>A	c.(163-165)ctG>ctA	p.L55L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	55						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTTCACCTTTCAGCGCCTCTT	0.612000													19	55					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79724924	79724924	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:79724924C>G	ENST00000275034.4	-	15	1566	c.1399G>C	c.(1399-1401)Gat>Cat	p.D467H		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	467					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AATACCTCATCTTCATGACCC	0.363000													12	23					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719073	155719073	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:155719073T>C	ENST00000510397.1	+	3	441	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	RBM46_ENST00000281722.3_Missense_Mutation_p.Y88H|RBM46_ENST00000514866.1_Missense_Mutation_p.Y88H	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	88	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGGAAGATATATGAATTTCG	0.373000													10	43					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22837883	22837883	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:22837883G>C	ENST00000266517.4	+	8	1443	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	452					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAAGTGCCTGAGTAAAGAAG	0.318000													9	20					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744740	37744740	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:37744740T>G	ENST00000539465.1	+	16	3304	c.2711T>G	c.(2710-2712)cTg>cGg	p.L904R	FRMPD1_ENST00000377765.3_Missense_Mutation_p.L904R|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	904						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCCTTGGGGCTGCTGGCTCCT	0.607000													21	42					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696153	60696153	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:60696153C>T	ENST00000005286.4	+	4	740	c.587C>T	c.(586-588)tCa>tTa	p.S196L	TMEM132A_ENST00000453848.2_Missense_Mutation_p.S196L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	196						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGGTTCTCACAGGCCTCC	0.677000													41	65					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423352	26423352	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:26423352C>G	ENST00000335473.7	+	43	7662	c.7412C>G	c.(7411-7413)tCa>tGa	p.S2471*	MYO18B_ENST00000536101.1_Nonsense_Mutation_p.S2471*|MYO18B_ENST00000407587.2_Nonsense_Mutation_p.S2472*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2471						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCACAGCGTTCAAGCATCCAC	0.547000													32	71					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242202139	242202139	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:242202139C>G	ENST00000391975.1	-	5	664	c.437G>C	c.(436-438)aGa>aCa	p.R146T	HDLBP_ENST00000310931.4_Missense_Mutation_p.R146T|HDLBP_ENST00000391976.2_Missense_Mutation_p.R146T|HDLBP_ENST00000427183.2_Missense_Mutation_p.R182T	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	146					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGTCTGCAGTCTAGCAACAAT	0.547000													20	21					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46023127	46023127	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:46023127C>T	ENST00000296137.2	-	3	302	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E33K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	33					transport	integral to membrane	metal ion binding|protein binding	p.E33*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGATGGGTTCCCCTGCTTCC	0.398000													9	37					0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28113131	28113131	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:28113131G>A	ENST00000302188.3	-	1	834	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	RBKS_ENST00000444339.2_Silent_p.L28L	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	28					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AACCTGACCAGGTCGGTCATG	0.667000													15	53					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990828	47990828	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:47990828C>T	ENST00000371741.4	-	2	1435	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	423					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTGTCTCTTCTGCTCCTTAT	0.498000													25	64					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700974	44700974	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:44700974G>T	ENST00000396056.2	+	4	1354	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H	ZNF35_ENST00000542250.1_Missense_Mutation_p.Q213H|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	373					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCTTTACCCAGAGTGCAAATC	0.453000													17	31					1.5739e-10	1.64339e-10	1	1	0
DST	667	broad.mit.edu	37	6	56357048	56357048	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:56357048C>T	ENST00000370754.5	-	85	20640	c.20641G>A	c.(20641-20643)Gat>Aat	p.D6881N	DST_ENST00000244364.6_Missense_Mutation_p.D4289N|DST_ENST00000421834.2_Missense_Mutation_p.D4615N|DST_ENST00000446842.2_Missense_Mutation_p.D6377N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D6703N|DST_ENST00000361203.3_Missense_Mutation_p.D6592N|DST_ENST00000370788.2_Missense_Mutation_p.D4506N			Q03001	DYST_HUMAN	dystonin	6701					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCTTGCATCATCCAAAGAT	0.368000													12	26					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17435670	17435670	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:17435670C>T	ENST00000159087.4	-	17	3345	c.3187G>A	c.(3187-3189)Gag>Aag	p.E1063K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1063						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GACCCAGGCTCAGCCCGGGTG	0.706000													48	97					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47796389	47796389	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47796389C>G	ENST00000339998.6	-	14	1783	c.1645G>C	c.(1645-1647)Gac>Cac	p.D549H	MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	0	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTCTAAATGTCAATCAAATAA	0.358000													18	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629518	179629518	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:179629518G>C	ENST00000589042.1	-	42	9948	c.9724C>G	c.(9724-9726)Ctg>Gtg	p.L3242V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3196V|TTN_ENST00000342992.6_Missense_Mutation_p.L3242V|TTN_ENST00000342175.6_Missense_Mutation_p.L3196V|TTN_ENST00000591111.1_Missense_Mutation_p.L3242V|TTN_ENST00000460472.2_Missense_Mutation_p.L3196V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.L3242V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2972	Ig-like 19.						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)			AGCTCCTGCAGAACTTGGGGC	0.478000													16	84					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214585	156214585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156214585C>A	ENST00000335852.1	-	6	1024	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	PAQR6_ENST00000368270.1_Nonsense_Mutation_p.E219*|PAQR6_ENST00000540423.1_Nonsense_Mutation_p.E240*|PAQR6_ENST00000356983.2_Nonsense_Mutation_p.E137*|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000292291.5_Nonsense_Mutation_p.E243*	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	243						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCCAGCCTTTCAGGCAGGTGG	0.647000													20	46					2.37509e-13	2.5191e-13	1	1	0
MYL6	4637	broad.mit.edu	37	12	56552240	56552240	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:56552240G>A	ENST00000536128.1	+	1	95	c.55G>A	c.(55-57)Gag>Aag	p.E19K	MYL6_ENST00000551589.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.E19K|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGGCAGGAAGAGACGGGTGG	0.632000													11	18					0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41245949	41245949	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:41245949C>T	ENST00000446533.3	+	1	603	c.294C>T	c.(292-294)ttC>ttT	p.F98F	CHAC1_ENST00000444189.2_Silent_p.F98F	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	98					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTGTGGGCTTCGTGCGCGGCT	0.652000													13	46					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43388991	43388991	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:43388991G>C	ENST00000296088.7	+	7	1544	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.D414H|SNRK_ENST00000437827.1_Missense_Mutation_p.D208H|SNRK_ENST00000429705.2_Missense_Mutation_p.D414H	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	414					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGCTAAGAAAGATGACCTCCC	0.577000													10	15					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105912462	105912462	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:105912462C>T	ENST00000372548.4	+	13	2448	c.2339C>T	c.(2338-2340)tCt>tTt	p.S780F	CXorf57_ENST00000372544.2_Missense_Mutation_p.S683F	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	780										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTCGAACATCTCAAATAGAC	0.423000													66	53					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841717	157841717	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:157841717G>A	ENST00000464171.1	+	3	382	c.257G>A	c.(256-258)cGt>cAt	p.R86H	RSRC1_ENST00000475278.2_Missense_Mutation_p.R86H|RSRC1_ENST00000312179.6_Missense_Mutation_p.R86H|RSRC1_ENST00000480820.1_Missense_Mutation_p.R86H|RSRC1_ENST00000295930.3_Missense_Mutation_p.R86H	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	86	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGTCGAAGTCGTTCAAGGGGT	0.383000													23	59					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454538	114454538	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:114454538G>C	ENST00000394779.3	-	23	3654	c.3410C>G	c.(3409-3411)tCa>tGa	p.S1137*	C9orf84_ENST00000394777.4_Nonsense_Mutation_p.S1102*|C9orf84_ENST00000318737.4_Nonsense_Mutation_p.S1176*|C9orf84_ENST00000374287.3_Nonsense_Mutation_p.S1176*	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1176										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAAAAAACTTGAGATTTCTTT	0.348000													9	29					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730097	140730097	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:140730097G>A	ENST00000523390.1	+	1	270	c.270G>A	c.(268-270)gaG>gaA	p.E90E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGATCGAGAGAAGATTTGCG	0.438000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	26					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34839145	34839145	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:34839145G>A	ENST00000420428.2	-	11	1727	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	CELF4_ENST00000334919.5_Intron|CELF4_ENST00000591287.1_Splice_Site_p.F442F|CELF4_ENST00000601019.1_Splice_Site_p.F442F|CELF4_ENST00000412753.1_Splice_Site_p.F443F|CELF4_ENST00000588597.1_Silent_p.F432F|CELF4_ENST00000591282.1_Splice_Site_p.F444F|CELF4_ENST00000361795.5_Splice_Site_p.F442F|CELF4_ENST00000603232.1_Splice_Site_p.F443F	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	444	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGACATTACCGAAAGGGAGGA	0.522000													16	45					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786118	19786118	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:19786118C>G	ENST00000341998.2	-	1	808	c.747G>C	c.(745-747)ttG>ttC	p.L249F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L249F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	249					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCAGCATGATCAAGTCAACAA	0.383000													23	53					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880800	12880800	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:12880800C>T	ENST00000155926.4	+	3	2331	c.912C>T	c.(910-912)gaC>gaT	p.D304D	TRIB2_ENST00000381465.2_Silent_p.D168D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	304	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAATTCTGGACCATCCTTGGT	0.527000													8	35					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40486045	40486045	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40486045G>C	ENST00000264657.5	-	9	1132	c.820C>G	c.(820-822)Caa>Gaa	p.Q274E	STAT3_ENST00000588969.1_Missense_Mutation_p.Q274E|STAT3_ENST00000389272.3_Missense_Mutation_p.Q176E|STAT3_ENST00000585517.1_Missense_Mutation_p.Q274E|STAT3_ENST00000404395.3_Missense_Mutation_p.Q274E	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)	274					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			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)		GTCTGAAGTTGAGATTCTGCT	0.433000									Hyperimmunoglobulin E Recurrent Infection Syndrome				13	27					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903453	6903453	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:6903453C>T	ENST00000486284.1	+	1	652	c.378C>T	c.(376-378)ctC>ctT	p.L126L	GRM7_ENST00000403881.1_Silent_p.L126L|GRM7_ENST00000402647.2_Silent_p.L126L|GRM7_ENST00000357716.4_Silent_p.L126L|GRM7_ENST00000389336.4_Silent_p.L126L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	126					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCAGGCGCTCATCCAGAAGG	0.602000													27	64					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131865300	131865300	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:131865300C>G	ENST00000318080.2	-	4	750	c.456G>C	c.(454-456)atG>atC	p.M152I	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	152					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACTTGTCAATCATGACCTTGA	0.572000													63	148					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127223117	127223117	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:127223117G>A	ENST00000321407.2	-	2	1703	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	427						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGACATCCAGACTGGACTCC	0.557000													36	92					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106808218	106808218	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:106808218C>A	ENST00000276185.4	+	13	1317	c.1317C>A	c.(1315-1317)ttC>ttA	p.F439L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	439	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGTCCGAGTTCAGCAAGATCA	0.582000													48	38					4.18559e-23	4.51817e-23	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37183356	37183356	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:37183356C>G	ENST00000274258.7	-	26	5157	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	C5orf42_ENST00000508244.1_Missense_Mutation_p.E1643Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1643Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1643										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTGGTTTTCTAAATGCATG	0.358000													7	30					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458000													12	44					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35507497	35507497	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:35507497C>G	ENST00000217320.3	+	3	287	c.243C>G	c.(241-243)ttC>ttG	p.F81L	TLDC2_ENST00000602922.1_Missense_Mutation_p.F81L	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GTCTGGTCTTCTGCACGTCAA	0.642000													43	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629377	179629377	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:179629377G>A	ENST00000589042.1	-	42	10089	c.9865C>T	c.(9865-9867)Cat>Tat	p.H3289Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H3243Y|TTN_ENST00000342992.6_Missense_Mutation_p.H3289Y|TTN_ENST00000342175.6_Missense_Mutation_p.H3243Y|TTN_ENST00000591111.1_Missense_Mutation_p.H3289Y|TTN_ENST00000460472.2_Missense_Mutation_p.H3243Y|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.H3289Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3018	Ig-like 19.						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)			TGCCCATCATGAAGAAATTTG	0.488000													42	101					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40513302	40513302	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:40513302C>T	ENST00000347077.4	+	5	509	c.293C>T	c.(292-294)tCa>tTa	p.S98L	ZNF546_ENST00000600094.1_Missense_Mutation_p.S72L|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AACCTGGTCTCACTGGGTAAG	0.468000													23	48					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6694615	6694615	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:6694615G>A	ENST00000349363.6	-	8	969	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377577.5_3'UTR|THAP3_ENST00000377627.3_3'UTR			Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	234					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTTGCTCCGAGGGGTCAGC	0.677000													6	17					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31917265	31917265	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:31917265G>C	ENST00000556679.1	+	22	2900	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	CFB_ENST00000477310.1_Missense_Mutation_p.D798H|CFB_ENST00000425368.2_Missense_Mutation_p.D447H|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000456570.1_Missense_Mutation_p.D949H			P00751	CFAB_HUMAN	complement factor B	447					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTCCAAGAAAGACAATGAGCA	0.423000													15	37					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4458575	4458575	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:4458575C>G	ENST00000254718.4	-	1	351	c.45G>C	c.(43-45)gcG>gcC	p.A15A	MYBBP1A_ENST00000381556.2_Silent_p.A15A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	15	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACTCTGCGTCGCTTCTCCAG	0.632000													9	12					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332090	144332090	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:144332090G>T	ENST00000330701.4	+	2	446	c.77G>T	c.(76-78)aGa>aTa	p.R26I	ZFP41_ENST00000520584.1_Missense_Mutation_p.R26I|ZFP41_ENST00000522452.1_Missense_Mutation_p.R26I	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	26					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			AGTGCGCTCAGAGAGGAGAAG	0.597000													12	30					2.27111e-07	2.34645e-07	1	1	0
TLN2	83660	broad.mit.edu	37	15	63014626	63014626	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:63014626G>T	ENST00000561311.1	+	25	3296	c.3066G>T	c.(3064-3066)ctG>ctT	p.L1022L	TLN2_ENST00000306829.6_Silent_p.L1022L			Q9Y4G6	TLN2_HUMAN	talin 2	1022	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCATGCAGCTGAGCCAGTGTG	0.577000													13	27					5.50884e-06	5.65043e-06	1	1	0
MC3R	4159	broad.mit.edu	37	20	54824697	54824697	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:54824697C>G	ENST00000243911.2	+	1	910	c.798C>G	c.(796-798)atC>atG	p.I266M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	303					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTCATCATCACCTGCCCCA	0.562000													37	120					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31854508	31854508	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:31854508C>T	ENST00000397525.1	-	7	1139	c.916G>A	c.(916-918)Gac>Aac	p.D306N	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.D143N|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.D306N|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.D306N	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	306						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCATTAAAGTCAAAGTCTCCT	0.478000													17	38					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53125964	53125964	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:53125964G>A	ENST00000296292.3	-	13	1642	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Silent_p.L488L	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	527					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ACTGAGTCCTGAGGAAATGGA	0.567000													13	44					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52437315	52437315	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:52437315C>G	ENST00000460680.1	-	14	2201		c.e14-1		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TTCCCACCCTCTGGGAAGAGA	0.597000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							17	36					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74277002	74277002	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:74277002G>A	ENST00000262765.5	-	9	3977	c.3798C>T	c.(3796-3798)gcC>gcT	p.A1266A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1266							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTGCAGGATGGCACTCTGCA	0.622000													22	39					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19440422	19440422	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:19440422G>C	ENST00000538714.1	+	12	1781	c.1777G>C	c.(1777-1779)Gac>Cac	p.D593H	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D351H|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.D593H|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D485H|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.D593H|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D593H|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D593H|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D485H|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D599H|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D593H	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	593							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTATGTGCCTGACAGAAGGTC	0.398000													25	68					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379929	10379929	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:10379929G>A	ENST00000397077.1	-	21	3791	c.3216C>T	c.(3214-3216)gaC>gaT	p.D1072D	ATP2B2_ENST00000352432.4_Silent_p.D1117D|ATP2B2_ENST00000383800.4_Silent_p.D1072D|ATP2B2_ENST00000360273.2_Silent_p.D1117D|ATP2B2_ENST00000343816.4_Silent_p.D1103D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1117					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCTCCGCGTGGTCGATCTCCT	0.647000													32	70					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656455	12656455	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:12656455C>A	ENST00000425538.1	+	10	2050	c.1850C>A	c.(1849-1851)tCc>tAc	p.S617Y	MYOCD_ENST00000343344.4_Missense_Mutation_p.S617Y|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.S521Y	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	617					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTGTGGAGTCCTCAGATCAA	0.517000													47	148					1.91693e-13	2.03654e-13	1	1	0
CREB3L4	148327	broad.mit.edu	37	1	153941041	153941041	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:153941041G>C	ENST00000368607.3	+	2	306	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	CREB3L4_ENST00000368603.1_Missense_Mutation_p.E14Q|CREB3L4_ENST00000368601.1_Missense_Mutation_p.E14Q|CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E14Q|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E14Q	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	14					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCGTGGCTGGAGCCCCCAGA	0.592000													20	48					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187081	27187081	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:27187081C>G	ENST00000222728.3	-	1	312	c.288G>C	c.(286-288)caG>caC	p.Q96H	HOXA6_ENST00000521478.1_5'UTR|RP1-170O19.22_ENST00000467897.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGGGCCCCTCTGCTTGCCAC	0.647000													28	59					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968284	18968284	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:18968284C>G	ENST00000262803.5	+	15	2396	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	UPF1_ENST00000599848.1_Silent_p.L719L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	719					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACCCTGCACTCAGCGCCTTCC	0.647000													13	43					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432117	67432117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:67432117G>A	ENST00000348579.2	-	8	1266	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	309						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CTCTATACCTGAATGGGCCGC	0.632000													29	96					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40010531	40010531	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40010531C>T	ENST00000319121.3	-	2	1648	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	530						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TGTCGAGTCTCTGTATCATAG	0.433000													23	50					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492827	230492827	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:230492827C>T	ENST00000321327.2	-	4	661	c.662G>A	c.(661-663)gGa>gAa	p.G221E	PGBD5_ENST00000391860.1_Missense_Mutation_p.G76E|PGBD5_ENST00000525115.1_Missense_Mutation_p.G122E			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	122						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GTAGAAGCCTCCGCTCCAGAT	0.622000													19	49					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33558604	33558604	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:33558604C>G	ENST00000399362.4	-	35	4224	c.3871G>C	c.(3871-3873)Gag>Cag	p.E1291Q	CLASP2_ENST00000539981.1_Missense_Mutation_p.E1061Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E773Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1283Q|CLASP2_ENST00000468888.2_Missense_Mutation_p.E1292Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1051Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1071Q	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1293										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						TCTACACGCTCATTATGGTTA	0.358000													16	40					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109505358	109505358	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:109505358G>A	ENST00000257548.5	+	4	499	c.406G>A	c.(406-408)Gag>Aag	p.E136K	USP30_ENST00000392784.2_Missense_Mutation_p.E105K	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	136					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TACTGATGATGAGGTCTTAGA	0.373000													28	46					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352695	44352695	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:44352695C>G	ENST00000324461.7	+	7	2239	c.1942C>G	c.(1942-1944)Cat>Gat	p.H648D	ZNF283_ENST00000588797.1_Missense_Mutation_p.H509D	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAACTCATAGTAATGA	0.363000													20	50					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44072119	44072119	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:44072119G>A	ENST00000378832.1	+	3	638	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	194							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAAGTGACATGAACTGCATTG	0.463000													52	127					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147476	54147476	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:54147476C>T	ENST00000265572.3	-	3	750	c.453G>A	c.(451-453)atG>atA	p.M151I	OPRK1_ENST00000520287.1_Missense_Mutation_p.M151I|OPRK1_ENST00000524278.1_Missense_Mutation_p.M62I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	151					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCACGCTCATCATGGTCAAGG	0.483000													16	32					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294313	62294313	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62294313C>T	ENST00000378024.4	-	5	7850	c.7576G>A	c.(7576-7578)Gag>Aag	p.E2526K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2526					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGGCCCTCTGCTTTGAAG	0.502000													51	150					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689102	45689102	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:45689102G>A	ENST00000216211.4	+	5	644	c.612G>A	c.(610-612)cgG>cgA	p.R204R	UPK3A_ENST00000396082.2_Silent_p.R83R	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	204					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGGCCGGCGGAGCGGAGGCA	0.607000													24	54					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177930078	177930078	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:177930078C>G	ENST00000464631.2	-	7	869		c.e7-1		RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000308284.6_Intron			Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAGACATCTTCTGACCAACAG	0.473000													15	42					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11060055	11060055	+	Translation_Start_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:11060055G>A	ENST00000450189.1	+	1	163	c.3G>A	c.(1-3)atG>atA	p.M1I	CELF2_ENST00000379261.4_Intron|CELF2_ENST00000542579.1_Start_Codon_SNP_p.M1I|CELF2_ENST00000416382.2_Intron	NM_006561.3	NP_006552.3	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	0	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ccgcgAACATGACTTCTGCCT	0.741000													27	119					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135438791	135438791	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:135438791G>A	ENST00000443774.1	-	4	701	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	FRG2B_ENST00000425520.1_Silent_p.L217L			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	217						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGGCACACAGAGGCCCCCGG	0.592000													18	16					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169694764	169694764	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:169694764C>G	ENST00000337002.4	+	3	234	c.176C>G	c.(175-177)tCa>tGa	p.S59*	SEC62_ENST00000480708.1_Nonsense_Mutation_p.S59*	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	59					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTTTTGGATTCAAAGTGGGCA	0.343000													9	35					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110828832	110828832	+	Silent	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:110828832T>A	ENST00000375820.4	-	36	3118	c.2997A>T	c.(2995-2997)ggA>ggT	p.G999G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	999	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			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)			CACCTGGGGTTCCACTTATAC	0.488000													18	47					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238826	58238826	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:58238826C>T	ENST00000317398.6	-	1	166	c.71G>A	c.(70-72)aGa>aAa	p.R24K	ZNF671_ENST00000596939.1_Missense_Mutation_p.R24K|ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		CGGCAGGCGTCTCGATCGGGG	0.687000													20	45					0	0	1	0	0
SNX12	29934	broad.mit.edu	37	X	70288045	70288045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:70288045G>A	ENST00000374274.3	-	1	228	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	SNX12_ENST00000276105.3_Nonsense_Mutation_p.Q38*|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	38	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					CCCACCGTCTGAGGATTAAAG	0.637000													12	11					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124441051	124441051	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:124441051C>T	ENST00000408936.3	+	2	401	c.219C>T	c.(217-219)ttC>ttT	p.F73F	DAB2IP_ENST00000259371.2_Silent_p.F45F			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	73					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCACGCCGTTCCGGGTCACGG	0.682000													8	13					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143444	61143444	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:61143444C>T	ENST00000475015.1	-	0	894				C20orf166-AS1_ENST00000412495.1_RNA																							CTGGGACCCTCACCTTGACTG	0.662000													22	89					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28211894	28211894	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:28211894G>A	ENST00000354638.3	-	15	1733	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	OCA2_ENST00000382996.2_Silent_p.L526L|OCA2_ENST00000353809.5_Silent_p.L502L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	526					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTCTGAGGAGCGGAAAGC	0.458000									Oculocutaneous Albinism				9	30					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390684	197390684	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:197390684G>A	ENST00000367400.3	+	6	1861	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	CRB1_ENST00000538660.1_Missense_Mutation_p.E576K|CRB1_ENST00000535699.1_Missense_Mutation_p.E507K|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.E57K|CRB1_ENST00000367399.2_Missense_Mutation_p.E464K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	576	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						AATATTTGCAGAGGCTGTGAC	0.433000													40	70					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122413487	122413487	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:122413487C>G	ENST00000288912.4	+	19	3756	c.2902C>G	c.(2902-2904)Caa>Gaa	p.Q968E		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	968							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCTCCGCAGTCAAGGCATCGA	0.438000													14	38					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890494	43890494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:43890494G>C	ENST00000300283.6	+	8	1372	c.980G>C	c.(979-981)gGa>gCa	p.G327A	CKMT1B_ENST00000441322.1_Missense_Mutation_p.G327A	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	327	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTTCGGGCAGGAGTGCACATC	0.532000													36	86					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045391	35045391	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:35045391C>G	ENST00000312292.5	+	2	2812	c.2765C>G	c.(2764-2766)tCa>tGa	p.S922*	C9orf131_ENST00000421362.2_Nonsense_Mutation_p.S874*|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.S849*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	922										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAGAACCCTCAAACTCTAAG	0.527000													56	151					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365287	30365287	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:30365287C>G	ENST00000305596.3	-	4	485	c.310G>C	c.(310-312)Gat>Cat	p.D104H	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D104H	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	104					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAGTTGCCATCGGCATCAAAG	0.627000													28	80					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935926	82935926	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:82935926C>T	ENST00000260047.6	+	6	1408	c.613C>T	c.(613-615)Cac>Tac	p.H205Y	ANKRD42_ENST00000393392.2_Missense_Mutation_p.H178Y|ANKRD42_ENST00000533342.1_Missense_Mutation_p.H206Y|ANKRD42_ENST00000531895.1_Missense_Mutation_p.H206Y			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	178										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGCCACCTTCACTGTTTCAA	0.323000													17	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639676	179639676	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:179639676G>A	ENST00000589042.1	-	29	6986	c.6762C>T	c.(6760-6762)gtC>gtT	p.V2254V	TTN_ENST00000359218.5_Silent_p.V2208V|TTN_ENST00000342992.6_Silent_p.V2254V|TTN_ENST00000342175.6_Silent_p.V2208V|TTN_ENST00000591111.1_Silent_p.V2254V|TTN_ENST00000460472.2_Silent_p.V2208V|TTN_ENST00000360870.5_Silent_p.V2254V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1977	Ig-like 11.						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)			CAGTCGTTTTGACATTTTCAT	0.393000													15	37					0	0	1	0	0
ICT1	3396	broad.mit.edu	37	17	73016694	73016694	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:73016694G>A	ENST00000301585.5	+	5	491	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	160					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CATGATCACTGAGGCCAGCCA	0.463000													30	64					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300279	35300279	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:35300279G>A	ENST00000254457.5	+	5	2483	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	358					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCCAGCCCCGAGCCCAGCCT	0.736000													9	17					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248533	141248533	+	Silent	SNP	G	G	A	rs145624062		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:141248533G>A	ENST00000287008.3	-	2	651	c.504C>T	c.(502-504)ttC>ttT	p.F168F	PCDH1_ENST00000536585.1_Silent_p.F146F|PCDH1_ENST00000503492.1_Silent_p.F168F|PCDH1_ENST00000394536.3_Silent_p.F168F|PCDH1_ENST00000456271.1_Silent_p.F168F	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	168	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGTGAGGCGAAGTTGGGTG	0.552000													67	105					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10145781	10145781	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:10145781C>G	ENST00000428126.2	-	7	821	c.552G>C	c.(550-552)gaG>gaC	p.E184D	CLEC1B_ENST00000348658.4_Missense_Mutation_p.E184D|CLEC1B_ENST00000298527.6_Missense_Mutation_p.E217D			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	217	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CAGCCTTCCTCTCACACATTA	0.368000													36	126					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708205	43708205	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:43708205C>G	ENST00000405312.3	-	2	500	c.263G>C	c.(262-264)aGa>aCa	p.R88T	PSG4_ENST00000244295.9_Missense_Mutation_p.R88T|PSG4_ENST00000433626.2_Missense_Mutation_p.R88T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	88	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.R88I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATATATAATTCTTTGACCGTC	0.438000													75	199					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48027550	48027550	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:48027550G>A	ENST00000234420.5	+	4	2580	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	MSH6_ENST00000538136.1_Missense_Mutation_p.E508K|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.E680K	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAAGTTGTAGAGCTTCTAAA	0.448000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				27	48					0	0	1	0	0
C11orf31	280636	broad.mit.edu	37	11	57509671	57509671	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:57509671G>C	ENST00000388857.4	+	3	375	c.351G>C	c.(349-351)ttG>ttC	p.L117F	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_Missense_Mutation_p.L117F|RP11-691N7.6_ENST00000531074.1_Missense_Mutation_p.E13Q			Q8IZQ5	SELH_HUMAN	chromosome 11 open reading frame 31	117					cell redox homeostasis		selenium binding										TGGAAGAGTTGAAGAAGTACC	0.537000													5	9					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94100967	94100967	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:94100967C>G	ENST00000553484.1	+	33	6037	c.5883C>G	c.(5881-5883)atC>atG	p.I1961M	UNC79_ENST00000256339.4_Missense_Mutation_p.I1762M|UNC79_ENST00000393151.2_Missense_Mutation_p.I1939M|UNC79_ENST00000555664.1_Intron			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1939						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCATAACATCAGCAACTGGG	0.493000													20	79					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47753903	47753903	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:47753903C>G	ENST00000398545.4	-	8	1510	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	465										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTCCTTCTCTGCTTCTTGG	0.498000													56	112					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109524402	109524402	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:109524402C>T	ENST00000409271.1	-	10	1416	c.973G>A	c.(973-975)Gac>Aac	p.D325N	EDAR_ENST00000376651.1_Missense_Mutation_p.D325N|EDAR_ENST00000258443.2_Missense_Mutation_p.D293N			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	293					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCCTGCTTGTCAGGGGCGGGC	0.612000													28	77					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179564	103179564	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:103179564C>T	ENST00000428762.1	-	45	7300	c.7141G>A	c.(7141-7143)Gac>Aac	p.D2381N	RELN_ENST00000343529.5_Missense_Mutation_p.D2381N|RELN_ENST00000424685.2_Missense_Mutation_p.D2381N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2381					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCAGCGAAGTCTATCTGTAGG	0.537000													10	34					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26854482	26854482	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:26854482C>G	ENST00000398145.2	-	12	2391	c.1775G>C	c.(1774-1776)aGg>aCg	p.R592T	HPS4_ENST00000402105.3_Missense_Mutation_p.R587T|HPS4_ENST00000336873.5_Missense_Mutation_p.R592T|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Missense_Mutation_p.R605T	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	592					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGCCTCATCCCTGGGCAGCGT	0.587000									Hermansky-Pudlak syndrome				13	50					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74639705	74639705	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:74639705C>G	ENST00000287936.4	+	3	349	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	HMGCR_ENST00000511206.1_Missense_Mutation_p.L65V|HMGCR_ENST00000343975.5_Missense_Mutation_p.L65V	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	65					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CATTATAATTCTGACAATAAC	0.294000													17	21					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62458267	62458267	+	Nonsense_Mutation	SNP	G	G	A	rs149907021	by1000genomes	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:62458267G>A	ENST00000278893.7	-	8	1028	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	BSCL2_ENST00000405837.1_Missense_Mutation_p.S384L|BSCL2_ENST00000403550.1_Missense_Mutation_p.S318L|BSCL2_ENST00000407022.3_Missense_Mutation_p.S318L|BSCL2_ENST00000433053.1_Missense_Mutation_p.S382L|BSCL2_ENST00000421906.1_Missense_Mutation_p.S318L|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.S382L	NM_001130702.2	NP_001124174.2	Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	0					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						ACCTGTCCCTGAGGGATCTTC	0.577000													23	27					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194053	36194053	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:36194053C>G	ENST00000242108.4	+	2	838	c.120C>G	c.(118-120)ctC>ctG	p.L40L	EEPD1_ENST00000534978.1_Silent_p.L40L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	40	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGAGCGGCTCAACATCAACA	0.607000													39	104					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49280072	49280072	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:49280072G>C	ENST00000586178.1	-	10	1396	c.1053C>G	c.(1051-1053)ttC>ttG	p.F351L	MBTD1_ENST00000415868.1_Missense_Mutation_p.F351L|MBTD1_ENST00000376381.2_Missense_Mutation_p.F351L	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	351					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CAGATCTTTTGAATCGATGAC	0.393000													25	68					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43129844	43129844	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:43129844C>T	ENST00000342374.4	-	9	1310	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	SERINC3_ENST00000541235.1_Missense_Mutation_p.E330K|SERINC3_ENST00000255175.1_Missense_Mutation_p.E385K	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	385						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CCATCTTCTTCATCACTGGCA	0.522000													25	86					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693230	55693230	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:55693230G>C	ENST00000376350.3	-	20	3262	c.3240C>G	c.(3238-3240)ctC>ctG	p.L1080L	PTPRH_ENST00000263434.5_Silent_p.L902L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1080					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGACTGTTGGAGGAACCGCA	0.617000													54	88					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73971994	73971994	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:73971994G>A	ENST00000476977.1	+	20	3740	c.2049G>A	c.(2047-2049)cgG>cgA	p.R683R	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.R715R|GTF2IRD1_ENST00000424337.2_Silent_p.R683R|GTF2IRD1_ENST00000265755.3_Silent_p.R698R			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	698						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTCTCACGGATCGACATCG	0.493000													17	46					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30963148	30963148	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:30963148C>G	ENST00000311813.4	+	4	769	c.714C>G	c.(712-714)ctC>ctG	p.L238L	AQP1_ENST00000509504.1_Silent_p.L415L|AQP1_ENST00000441328.2_Silent_p.L155L|AQP1_ENST00000409611.1_Silent_p.L187L|AQP1_ENST00000409899.1_Silent_p.L123L|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000434909.2_Silent_p.L298L	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				GCAGTGACCTCACAGACCGCG	0.582000													14	48					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124340581	124340581	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:124340581C>G	ENST00000287394.5	-	25	3824	c.3717G>C	c.(3715-3717)ttG>ttC	p.L1239F	ATAD2_ENST00000521903.1_Missense_Mutation_p.L557F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			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)			AATTATTTCTCAATTCCAGTT	0.373000													10	30					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100678575	100678575	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:100678575G>A	ENST00000375119.3	-	2	198	c.122C>T	c.(121-123)tCg>tTg	p.S41L	C9orf156_ENST00000478126.1_Intron	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	41					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				ATTCTTGGCCGAGAAACAAGA	0.393000													20	20					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420851	54420851	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:54420851G>C	ENST00000296733.1	-	9	1169	c.995C>G	c.(994-996)tCa>tGa	p.S332*	CDC20B_ENST00000381375.2_Nonsense_Mutation_p.S332*|CDC20B_ENST00000322374.6_Nonsense_Mutation_p.S332*|CDC20B_ENST00000334206.5_Missense_Mutation_p.Q361E	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	332										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCCAGTCTTGACCCACTGCG	0.438000													34	32					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677122	48677122	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:48677122G>A	ENST00000352832.5	+	16	3895	c.3523G>A	c.(3523-3525)Gac>Aac	p.D1175N	CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1175N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1198N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1175N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1175N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1175N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1175N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1175N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1198N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1198N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1198N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1175N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1198N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1198N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1198					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGAGCACCAGGACTGCAATGG	0.662000													14	22					0	0	1	0	0
GSK3A	2931	broad.mit.edu	37	19	42736658	42736658	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:42736658G>A	ENST00000398249.4	-	8	2742	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	GSK3A_ENST00000222330.3_Silent_p.F425F			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	425	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CACCAGCACTGAAGTTGAAGA	0.597000													15	42					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717384	47717384	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:47717384G>C	ENST00000360380.3	-	18	3651	c.3288C>G	c.(3286-3288)ctC>ctG	p.L1096L	STIL_ENST00000337817.5_Silent_p.L1096L|STIL_ENST00000371877.3_Silent_p.L1097L|STIL_ENST00000243182.6_Silent_p.L1096L|STIL_ENST00000396221.2_Silent_p.L1079L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1096					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATTAATATGGAGAAGGCTGA	0.368000													37	102					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052131	132052131	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:132052131C>T	ENST00000286355.5	-	1	2541	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R150Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	150					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 membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R150Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGACCCCTCGGTAGCTATA	0.577000										HNSCC(32;0.087)			19	26					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34219273	34219273	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:34219273C>T	ENST00000317619.3	-	11	1112	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CPNE1_ENST00000397445.1_Missense_Mutation_p.E240K|CPNE1_ENST00000397442.1_Missense_Mutation_p.E240K|CPNE1_ENST00000397443.1_Missense_Mutation_p.E240K|CPNE1_ENST00000397446.1_Missense_Mutation_p.E240K|CPNE1_ENST00000317677.5_Missense_Mutation_p.E245K|CPNE1_ENST00000352393.4_Missense_Mutation_p.E240K			Q99829	CPNE1_HUMAN	copine I	240					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CATTCAAACTCAGCCTGGTGA	0.468000													22	69					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974120	64974120	+	Silent	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:64974120A>G	ENST00000399262.2	-	8	2025	c.1807T>C	c.(1807-1809)Tta>Cta	p.L603L	JMJD1C_ENST00000402544.1_Silent_p.L384L|JMJD1C_ENST00000542921.1_Silent_p.L421L|JMJD1C_ENST00000399251.1_Silent_p.L384L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	603					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			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)					ACTGCACTTAAAGGAGAAATG	0.358000													15	19					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14155855	14155855	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:14155855G>T	ENST00000380959.3	-	4	1127	c.654C>A	c.(652-654)ttC>ttA	p.F218L	NFIB_ENST00000397575.3_Missense_Mutation_p.F218L|NFIB_ENST00000397581.2_Missense_Mutation_p.F218L|NFIB_ENST00000380934.4_Missense_Mutation_p.F244L|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000380953.1_Missense_Mutation_p.F218L|NFIB_ENST00000397579.2_Missense_Mutation_p.F218L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	218					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CTGATACATTGAAGACTCCAG	0.259000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								6	19					0.00448238	0.00452848	1	1	0
CCDC180	100499483	broad.mit.edu	37	9	100071779	100071779	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:100071779G>A	ENST00000375202.2	+	17	1637	c.285G>A	c.(283-285)atG>atA	p.M95I	CCDC180_ENST00000395220.1_Missense_Mutation_p.M234I|CCDC180_ENST00000357054.1_Missense_Mutation_p.M234I|CCDC180_ENST00000529487.1_Missense_Mutation_p.M95I|CCDC180_ENST00000411667.2_Missense_Mutation_p.M95I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		GGATACCCATGATGAAGAAGG	0.592000													26	35					0	0	1	0	0
TMA7	51372	broad.mit.edu	37	3	48482025	48482025	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:48482025G>A	ENST00000438607.2	+	3	187	c.147G>A	c.(145-147)ggG>ggA	p.G49G	RP11-24C3.2_ENST00000438872.1_RNA	NM_015933.3	NP_057017.1			translation machinery associated 7 homolog (S. cerevisiae)											lung(1)	1						AGGCCGCGGGGAAGGGGCCCT	0.557000													4	17					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13625942	13625942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:13625942G>A	ENST00000011619.3	-	13	2060	c.2002C>T	c.(2002-2004)Cag>Tag	p.Q668*	RANBP9_ENST00000539980.1_Nonsense_Mutation_p.Q439*|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	668	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GGGTCAAGCTGATTTCCAACT	0.393000													83	111					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95457395	95457395	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:95457395C>T	ENST00000324972.6	+	5	585	c.392C>T	c.(391-393)tCa>tTa	p.S131L	DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S114L|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S114L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	131					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACAGACCCCTCAGTGCTCCAG	0.438000													72	199					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147842	70147842	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:70147842G>A	ENST00000374299.3	-	6	993	c.849C>T	c.(847-849)tcC>tcT	p.S283S	SLC7A3_ENST00000298085.4_Silent_p.S283S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	283					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCATCGGGATGGAACGCTGGG	0.522000													20	12					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462104	5462104	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:5462104C>G	ENST00000345221.3	-	4	2466	c.1912G>C	c.(1912-1914)Gag>Cag	p.E638Q	NLRP1_ENST00000572272.1_Missense_Mutation_p.E638Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.E638Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.E638Q|NLRP1_ENST00000577119.1_Missense_Mutation_p.E638Q|NLRP1_ENST00000354411.3_Missense_Mutation_p.E638Q	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	638					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTCTCATCCTCCAAGACATAG	0.448000													24	50					0	0	1	0	0
RPL28	6158	broad.mit.edu	37	19	55899468	55899468	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:55899468G>A	ENST00000560583.1	+	4	416	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	RPL28_ENST00000344063.2_Intron|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000458349.2_Intron	NM_001136134.1	NP_001129606.1	P46779	RL28_HUMAN	ribosomal protein L28	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTGCTGTGGGGAAGGGCCTCC	0.597000													13	38					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363094	13363094	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:13363094C>G	ENST00000254508.5	-	36	5239	c.5157G>C	c.(5155-5157)gaG>gaC	p.E1719D		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1719					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCTCCAAGTTCTCCAGAACCT	0.592000													49	83					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191929651	191929651	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:191929651C>G	ENST00000392320.2	-	8	978	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	STAT4_ENST00000358470.4_Missense_Mutation_p.E222Q	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	222					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGTCTGTCTCATGGATGATT	0.448000													39	135					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257246	105257246	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:105257246C>A	ENST00000507740.1	+	18	3115	c.2879C>A	c.(2878-2880)tCt>tAt	p.S960Y	RIMS2_ENST00000262231.10_Missense_Mutation_p.S985Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.S1164Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.S1146Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.S82Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1208					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S960C(2)|p.S1146C(1)|p.S1164C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCGAGAGTCTACAGATGGT	0.507000										HNSCC(12;0.0054)			32	136					3.66082e-28	3.97522e-28	1	1	0
ASGR2	433	broad.mit.edu	37	17	7017662	7017662	+	Translation_Start_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:7017662G>C	ENST00000355035.5	-	0	94				ASGR2_ENST00000380952.2_Intron|ASGR2_ENST00000254850.7_Intron			P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2						cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CGTGGAGGTTGATGGTGGGAT	0.657000													3	7					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38150986	38150986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:38150986G>T	ENST00000406386.3	+	13	5737	c.5482G>T	c.(5482-5484)Gag>Tag	p.E1828*	TRIOBP_ENST00000407319.2_Nonsense_Mutation_p.E115*|TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.E115*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1828	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCACTGCTGAGGAGGTGAG	0.582000													5	14					0.014758	0.0148745	1	1	0
CHST13	166012	broad.mit.edu	37	3	126260809	126260809	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:126260809C>T	ENST00000319340.2	+	3	464	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	138					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGCGCGCCATCTCCGCGCAAG	0.711000													8	17					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173504	54173504	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:54173504C>T	ENST00000259782.4	+	1	252	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TINAG_ENST00000370864.3_Silent_p.F34F|TINAG_ENST00000370869.3_Silent_p.F48F|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	52					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.F52F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGCCATTTTCCAAGGGCAAT	0.423000													40	112					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31008057	31008057	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:31008057C>T	ENST00000215095.5	-	7	715	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	STX1B_ENST00000565419.1_Missense_Mutation_p.E162K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	162					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCCAGTTCTTCGTTGGTGGTG	0.632000													29	78					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40804653	40804653	+	Missense_Mutation	SNP	G	G	C	rs148499418		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:40804653G>C	ENST00000248929.9	+	17	1994	c.1805G>C	c.(1804-1806)aGa>aCa	p.R602T	SGSM3_ENST00000454798.2_Missense_Mutation_p.R535T	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	602	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GAGGTCGAGAGAGACTTTGCC	0.632000													21	52					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128991739	128991739	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:128991739G>C	ENST00000314797.6	+	21	2352	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	750	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CTATGAGGATGAGTATGTGGT	0.512000													14	33					0	0	1	0	0
RNF181	51255	broad.mit.edu	37	2	85823747	85823747	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:85823747G>A	ENST00000441634.1	+	2	231	c.192G>A	c.(190-192)agG>agA	p.R64R	RNF181_ENST00000306368.4_Silent_p.R64R			Q9P0P0	RN181_HUMAN	ring finger protein 181	64							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						ACCTCCCCAGGACAGTCATCA	0.542000													14	45					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16864007	16864007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:16864007C>A	ENST00000380087.2	-	11	1513	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*	RBBP7_ENST00000380084.4_Nonsense_Mutation_p.E429*|RBBP7_ENST00000404022.1_Nonsense_Mutation_p.E376*			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	385					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ACCCAAGGCTCATTGGGGTTC	0.373000													37	13					1.15183e-24	1.24546e-24	1	1	0
AEN	64782	broad.mit.edu	37	15	89173319	89173319	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:89173319G>C	ENST00000332810.3	+	4	923	c.772G>C	c.(772-774)Gat>Cat	p.D258H	AEN_ENST00000379231.3_Missense_Mutation_p.D258H	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	258	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATCAGTAGAAGATGCCACGAC	0.617000													21	53					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773884	151773884	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:151773884G>C	ENST00000535741.1	-	23	3451	c.2978C>G	c.(2977-2979)tCa>tGa	p.S993*	LRBA_ENST00000510413.1_Nonsense_Mutation_p.S993*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.S993*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.S993*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	993						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTCTATACTTGAATTTTCATT	0.363000													6	23					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36926998	36926998	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:36926998G>A	ENST00000373674.3	+	2	577	c.249G>A	c.(247-249)ggG>ggA	p.G83G		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	83						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGAGCGCGGGCGCCGCGGCG	0.667000													7	23					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144320338	144320338	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:144320338G>A	ENST00000360057.3	-	6	377	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TPK1_ENST00000378099.3_Missense_Mutation_p.S92L|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.S87L|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	92					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCAGGAGTTGAAATGAGCTC	0.308000													39	73					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68960144	68960144	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:68960144C>G	ENST00000456315.2	-	2	397	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	DEPDC1_ENST00000370966.5_Missense_Mutation_p.E95Q	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	95	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCAACATTTTCTGATCCCCAC	0.328000													9	16					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691095	129691095	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:129691095C>T	ENST00000358303.4	-	1	196	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.E38K|ZC3HC1_ENST00000311873.5_Start_Codon_SNP_p.M1I|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.E38K	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	38					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCAATCCCCTCATCTATCAGC	0.587000													29	86					0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75133803	75133803	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:75133803G>T	ENST00000440863.2	-	4	503	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	ULK3_ENST00000568667.1_Missense_Mutation_p.L149M|ULK3_ENST00000569437.1_Missense_Mutation_p.L138M	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	138	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						TGTGGCTTCAGATCCAGGTGA	0.542000													12	38					2.27111e-07	2.34645e-07	1	1	0
IGLV3-32	28787	broad.mit.edu	37	22	22937377	22937377	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:22937377C>T	ENST00000390303.2	+	0	234																											TGCTGGTCATCTATGATAGCA	0.587000											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	63					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653921	159653921	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:159653921G>A	ENST00000297267.9	+	11	2577	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D730N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	793						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGTGACGGCGATAGGGAAGA	0.632000													6	6					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17772668	17772668	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:17772668G>T	ENST00000581396.1	-	7	843	c.747C>A	c.(745-747)ttC>ttA	p.F249L	TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000478943.1_Missense_Mutation_p.F32L|TOM1L2_ENST00000395739.4_Missense_Mutation_p.F254L|TOM1L2_ENST00000318094.10_Missense_Mutation_p.F254L|TOM1L2_ENST00000542206.1_Missense_Mutation_p.F151L|TOM1L2_ENST00000535933.1_Missense_Mutation_p.F246L|TOM1L2_ENST00000379504.3_Missense_Mutation_p.F299L|TOM1L2_ENST00000540946.1_Missense_Mutation_p.F201L	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	299	GAT.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CGTATCGAAGGAAGACGTTGT	0.483000													14	42					9.16793e-09	9.51052e-09	1	1	0
TRIM68	55128	broad.mit.edu	37	11	4624510	4624510	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:4624510C>T	ENST00000300747.5	-	3	776	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	163					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACCAACTTCAAGCTTCCAG	0.552000													31	72					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769531	247769531	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:247769531C>T	ENST00000320002.2	+	1	676	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCACTCATCTCCATCTCCTAT	0.478000													8	33					0	0	1	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966385	139966385	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:139966385G>A	ENST00000280614.2	+	3	1246	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	351					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ACAAGCTGCTGAGTGCTGATG	0.522000													8	48					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059619	45059619	+	Silent	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:45059619A>G	ENST00000558173.1	+	5	5285	c.540A>G	c.(538-540)gtA>gtG	p.V180V	TRIM69_ENST00000560442.1_Silent_p.V180V|TRIM69_ENST00000559390.1_Silent_p.V384V|TRIM69_ENST00000558329.1_Silent_p.V163V|TRIM69_ENST00000561043.1_Silent_p.V147V|TRIM69_ENST00000329464.4_Silent_p.V384V|TRIM69_ENST00000338264.4_Silent_p.V225V			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	384					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGTAGAAGTAGCAAAGAAGA	0.468000													25	61					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994929	108994929	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:108994929G>C	ENST00000272452.2	+	1	462	c.136G>C	c.(136-138)Gat>Cat	p.D46H	SULT1C4_ENST00000409309.3_Missense_Mutation_p.D46H	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	46					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGCCAAGCCTGATGACCTGCT	0.473000													40	99					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657633	41657633	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:41657633C>G	ENST00000260359.6	+	7	913	c.649C>G	c.(649-651)Cca>Gca	p.P217A	NUSAP1_ENST00000450318.1_Missense_Mutation_p.P232A|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Missense_Mutation_p.P231A|NUSAP1_ENST00000559596.1_Missense_Mutation_p.P232A|NUSAP1_ENST00000560747.1_Missense_Mutation_p.P230A|NUSAP1_ENST00000450592.2_Missense_Mutation_p.P208A|NUSAP1_ENST00000560177.1_Missense_Mutation_p.P231A	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	232					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GGTCAGGACTCCAGTACCTCC	0.522000													7	16					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122097134	122097134	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:122097134C>G	ENST00000355329.3	-	2	436	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	89										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGAGTAGACTCTCCTGCACTT	0.567000													26	87					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27423510	27423510	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:27423510C>G	ENST00000358918.3	-	5	668		c.e5-1		APP_ENST00000448388.2_Splice_Site|APP_ENST00000440126.3_Splice_Site|APP_ENST00000439274.2_Splice_Site|APP_ENST00000348990.5_Splice_Site|APP_ENST00000474136.1_Splice_Site|APP_ENST00000346798.3_Splice_Site|APP_ENST00000354192.3_Splice_Site|APP_ENST00000359726.3_Splice_Site|APP_ENST00000357903.3_Splice_Site	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein						adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACTGCATGTCTACAAAGTGT	0.433000													4	8					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723580	58723580	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:58723580G>C	ENST00000326804.4	+	9	1489	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	ZNF274_ENST00000345813.3_Missense_Mutation_p.E312Q|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.E239Q	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	345	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			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)		TGACATTCCTGAGGAAGAACC	0.453000													16	45					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17489571	17489571	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:17489571G>A	ENST00000377873.3	-	5	737	c.698C>T	c.(697-699)tCc>tTc	p.S233F	BFSP1_ENST00000377868.2_Missense_Mutation_p.S108F|BFSP1_ENST00000536626.1_Missense_Mutation_p.S94F|BFSP1_ENST00000544874.1_Missense_Mutation_p.S94F	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	233	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTGCAGGTGGGAGAGCACCTC	0.642000													6	15					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406105	85406105	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:85406105G>C	ENST00000258888.5	+	10	5142	c.4975G>C	c.(4975-4977)Gag>Cag	p.E1659Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1659	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCAGCAGTGAGACTTCTCT	0.557000													11	58					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119059243	119059243	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:119059243C>T	ENST00000371410.3	-	9	1354	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	396	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGGCCAGAATCTTGTTCTCTC	0.408000													23	29					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687608	109687608	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:109687608G>A	ENST00000277225.5	+	3	1704	c.1415G>A	c.(1414-1416)tGt>tAt	p.C472Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.C472Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	472					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTCTACAAATGTGACGAATGT	0.473000													28	27					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111095544	111095544	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:111095544C>T	ENST00000262839.2	-	5	2277	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	453					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGGCCACAATCTTCAGGGAAA	0.418000													35	28					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548709	116548709	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:116548709G>A	ENST00000410059.1	+	18	2064	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K	DPP10_ENST00000393147.2_Silent_p.K532K|DPP10_ENST00000409163.1_Silent_p.K478K|DPP10_ENST00000310323.8_Silent_p.K521K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	528					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			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						TCCTGAAGAAGAAGATAGGAA	0.328000													9	28					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46023076	46023076	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:46023076C>G	ENST00000296137.2	-	3	353	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.E50Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	50	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGGAGATACTCAAGTTTATAA	0.408000													8	24					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109481818	109481818	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:109481818C>T	ENST00000407272.1	+	12	1637	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	CEP57L1_ENST00000523787.1_Missense_Mutation_p.H357Y|CEP57L1_ENST00000359793.3_Missense_Mutation_p.H354Y|CEP57L1_ENST00000368970.2_Missense_Mutation_p.H371Y|CEP57L1_ENST00000336977.4_Missense_Mutation_p.H254Y|CEP57L1_ENST00000521522.1_Missense_Mutation_p.H301Y|CEP57L1_ENST00000368968.2_Missense_Mutation_p.H354Y|CEP57L1_ENST00000517392.1_Missense_Mutation_p.H354Y|CEP57L1_ENST00000520883.1_Missense_Mutation_p.H254Y	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	354						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AACTGAAAGTCATTCAGTCTG	0.333000													14	28					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452318	43452318	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:43452318C>T	ENST00000282388.3	-	2	918	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	209	RNA-binding.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CAGCGCGGCCCATAGGGGCAG	0.682000													15	28					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84523329	84523329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:84523329G>T	ENST00000360700.4	+	8	1970	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	ZNF711_ENST00000395402.1_Intron|ZNF711_ENST00000373165.3_Nonsense_Mutation_p.E316*|ZNF711_ENST00000276123.3_Nonsense_Mutation_p.E316*|ZNF711_ENST00000542798.1_Nonsense_Mutation_p.E158*			Q9Y462	ZN711_HUMAN	zinc finger protein 711	316					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CCGAAGGTATGAAGATTGTCA	0.303000													5	5					0.184627	0.185207	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23222908	23222908	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:23222908C>T	ENST00000374632.3	+	9	1718	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	EPHB2_ENST00000400191.3_Splice_Site_p.R568W|EPHB2_ENST00000374630.3_Splice_Site_p.R568W|EPHB2_ENST00000374627.1_Splice_Site_p.R563W|EPHB2_ENST00000465676.1_3'UTR			P29323	EPHB2_HUMAN	EPH receptor B2	568					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.R568W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCCAGAAGACGGGGGTTTGA	0.612000													15	41					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801984	67801984	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:67801984C>G	ENST00000544246.1	-	2	1280	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	PCDH9_ENST00000377865.2_Missense_Mutation_p.E197Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.E197Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.E197Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E197Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	197	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCTCTCCCTCTGGAGTTTCC	0.433000													40	39					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362264	362264	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:362264G>C	ENST00000342640.4	-	8	1118	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	THEG_ENST00000346878.2_Missense_Mutation_p.S335C	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	359					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCTCATAGAGGCGAGGGG	0.602000													58	123					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966697	58966697	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:58966697C>T	ENST00000391696.1	+	3	1288	c.356C>T	c.(355-357)tCc>tTc	p.S119F	ZNF324B_ENST00000336614.4_Missense_Mutation_p.S129F|ZNF324B_ENST00000545523.1_Missense_Mutation_p.S129F			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCGGGTGCCTCCCCATCTCAG	0.607000													34	94					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99053033	99053033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:99053033C>T	ENST00000357310.1	+	5	1199	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q197*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q208*|APAF1_ENST00000552268.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q197*|APAF1_ENST00000333991.1_Nonsense_Mutation_p.Q208*	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	208	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ACGGTTGGATCAGGATGAGAG	0.478000													29	76					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64413450	64413450	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:64413450G>C	ENST00000262043.3	+	11	3596	c.3256G>C	c.(3256-3258)Gag>Cag	p.E1086Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E1086Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1086					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCATTGGAGAAGCCAGA	0.348000													11	31					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672487	198672487	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:198672487C>G	ENST00000367376.2	+	7	809	c.638C>G	c.(637-639)tCa>tGa	p.S213*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S165*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S215*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.S54*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.S52*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	213					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTGTCATTTCAACCACAACA	0.468000													27	84					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418985	135418985	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:135418985G>A	ENST00000338588.3	-	3	525	c.260C>T	c.(259-261)tCa>tTa	p.S87L	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.S87L	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	87						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GCGGAAGTCTGAGGCCTTCCG	0.592000													62	150					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115298	168115298	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:168115298G>A	ENST00000409728.1	+	11	2430	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	XIRP2_ENST00000409756.2_Missense_Mutation_p.E748K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E781K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E748K|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.E526K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATGAATATGAAATTGAGAA	0.333000													15	28					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39851199	39851199	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:39851199C>T	ENST00000303538.8	-	27	3699	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1054					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATGTTCTCTGCCATCTTCTTC	0.373000													11	14					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60907461	60907461	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:60907461C>T	ENST00000252999.3	-	28	3585	c.3519G>A	c.(3517-3519)gtG>gtA	p.V1173V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1173	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTGAGCCTCACGCTGGCCT	0.627000													32	109					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198723462	198723462	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:198723462G>C	ENST00000367376.2	+	32	3739	c.3568G>C	c.(3568-3570)Gaa>Caa	p.E1190Q	PTPRC_ENST00000352140.3_Missense_Mutation_p.E1142Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.E1192Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.E1031Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.E1029Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1190	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGCGGAAACAGAAGAGGTAGT	0.373000													22	50					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67687894	67687894	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:67687894G>C	ENST00000255674.6	-	45	6396	c.6110C>G	c.(6109-6111)tCa>tGa	p.S2037*	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2037							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGCCAGGTTTGAAAGAAGCAT	0.453000													39	89					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507207	64507207	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:64507207G>A	ENST00000377494.1	-	6	1519	c.597C>T	c.(595-597)ctC>ctT	p.L199L	RASGRP2_ENST00000377497.3_Silent_p.L199L|RASGRP2_ENST00000394432.3_Silent_p.L199L|RASGRP2_ENST00000354024.3_Silent_p.L199L			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	199	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCTGTTGAAGAGGGAGATGA	0.597000													52	113					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543891	54543891	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:54543891G>A	ENST00000566473.2	+	14	1741	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	ANKFN1_ENST00000318698.2_Missense_Mutation_p.E581K			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	581										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATCAACACCTGAGGAGCCAAC	0.398000													6	18					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67052579	67052579	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:67052579G>A	ENST00000308595.5	+	20	2115	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	609	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GATCCAGTCGGTGGAGGAGAC	0.642000													98	231					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632391	67632391	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:67632391C>T	ENST00000272342.5	+	5	2707	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	859						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGAAAGGTGTCAACCCATTAC	0.333000													13	16					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790103	40790103	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:40790103C>G	ENST00000373198.4	-	18	2863	c.2628G>C	c.(2626-2628)gaG>gaC	p.E876D	PTPRT_ENST00000373187.1_Missense_Mutation_p.E857D|PTPRT_ENST00000373193.3_Missense_Mutation_p.E860D|PTPRT_ENST00000373190.1_Missense_Mutation_p.E856D|PTPRT_ENST00000356100.2_Missense_Mutation_p.E866D|PTPRT_ENST00000373201.1_Missense_Mutation_p.E847D|PTPRT_ENST00000373184.1_Missense_Mutation_p.E847D	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTAGCTCATCTCCACAGGGT	0.617000													47	99					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142567929	142567929	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:142567929G>C	ENST00000389484.3	-	2	1095	c.124C>G	c.(124-126)Cac>Gac	p.H42D	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	42	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		CAAGTCACGTGATCGTGGCAA	0.448000										TSP Lung(27;0.18)			15	26					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73914310	73914310	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:73914310G>A	ENST00000586717.1	-	20	2410	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L	FBF1_ENST00000389570.4_Silent_p.L713L|FBF1_ENST00000319129.5_Silent_p.L712L			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	712										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AGCCGCTGCAGCTGCTCCTCG	0.652000													17	30					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35384294	35384294	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:35384294G>A	ENST00000378495.3	+	21	2833	c.2611G>A	c.(2611-2613)Gac>Aac	p.D871N	UNC13B_ENST00000378496.4_Missense_Mutation_p.D871N|UNC13B_ENST00000396787.1_Missense_Mutation_p.D883N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	871					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGAGGATCGACCTCTCTAC	0.463000													37	86					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072368	240072368	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:240072368G>C	ENST00000255380.4	+	5	2396	c.1617G>C	c.(1615-1617)gtG>gtC	p.V539V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	539					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACAGCACCGTGAACCCCGTGT	0.478000													28	66					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42883834	42883834	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:42883834C>T	ENST00000304672.1	+	1	108	c.27C>T	c.(25-27)ctC>ctT	p.L9L	PTCRA_ENST00000446507.1_Silent_p.L9L|PTCRA_ENST00000441198.1_Silent_p.L9L	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	9						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGCTACTTCTCCTGGCCCTTG	0.642000													43	69					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701506	139701506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:139701506G>T	ENST00000338005.6	+	13	1509	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	492										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GAACCGGGAGGAGGATATGAT	0.642000													16	53					1.15088e-07	1.19098e-07	1	1	0
PER3	8863	broad.mit.edu	37	1	7887205	7887205	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:7887205C>T	ENST00000377532.3	+	17	2440	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Missense_Mutation_p.S731L			P56645	PER3_HUMAN	period circadian clock 3	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G733fs*115(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACGCGGTCGGCCGGCTGC	0.552000													10	31					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18135878	18135878	+	Silent	SNP	C	C	T	rs147342699		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:18135878C>T	ENST00000316843.4	+	3	345	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	83					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGATGCACTTCTTGACCGGCC	0.592000													19	40					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40265833	40265833	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:40265833C>T	ENST00000225916.5	-	18	2401	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	783	Bromo.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGCGGCTTCGCAGCCGCTC	0.642000													9	36					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32429704	32429704	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:32429704G>C	ENST00000282587.5	+	11	748	c.711G>C	c.(709-711)ttG>ttC	p.L237F	SLC30A6_ENST00000379343.2_Missense_Mutation_p.L277F|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L208F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L237F|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L163F|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L40F	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	237						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTATTGCCTTGATGACATTTG	0.373000													9	30					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769490	148769490	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:148769490C>G	ENST00000316286.9	-	3	388	c.116G>C	c.(115-117)gGa>gCa	p.G39A	ZNF786_ENST00000451334.3_Missense_Mutation_p.G88A|ZNF786_ENST00000491431.1_Missense_Mutation_p.G125A			Q8N393	ZN786_HUMAN	zinc finger protein 786	125	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AACAAAGGATCCAAAGGAACA	0.502000													7	19					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32379464	32379464	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:32379464G>A	ENST00000315285.3	+	17	1875	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	SPAST_ENST00000345662.1_Missense_Mutation_p.D552N	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	584	Sufficient for microtubule severing.		D -> H (in SPG4).		cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCGATTATCTGACTTCACTGA	0.343000													10	23					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461965	5461965	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:5461965C>T	ENST00000345221.3	-	4	2605	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	NLRP1_ENST00000572272.1_Missense_Mutation_p.R684K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.R684K|NLRP1_ENST00000269280.4_Missense_Mutation_p.R684K|NLRP1_ENST00000577119.1_Missense_Mutation_p.R684K|NLRP1_ENST00000354411.3_Missense_Mutation_p.R684K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	684					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCCATCTCTCTCTCCCCCTC	0.532000													38	99					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641030	156641030	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:156641030C>T	ENST00000368223.3	-	4	3082	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	984	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCATCCTGCTCCCTCAGATTC	0.592000													132	343					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98413397	98413397	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:98413397C>G	ENST00000186436.5	-	27	3151	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	975						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTCAAGTTCTCAGTTGTTCCT	0.413000													9	22					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081393	157081393	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:157081393C>T	ENST00000362010.2	-	9	1802	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	VEPH1_ENST00000392832.2_Missense_Mutation_p.E499K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E499K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E499K|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	499						plasma membrane		p.E499K(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGTGATCTCTCAGTGTCTGTC	0.428000													24	59					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114203816	114203816	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:114203816G>C	ENST00000434316.2	+	13	2356	c.1997G>C	c.(1996-1998)aGg>aCg	p.R666T	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	666						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCAATCACGAGGTGTGTGCCC	0.602000													33	37					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77784954	77784954	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:77784954C>G	ENST00000380345.2	-	5	1128	c.453G>C	c.(451-453)ttG>ttC	p.L151F	LHFPL2_ENST00000515007.2_Missense_Mutation_p.L151F	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	151						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGTAGAGTATCAAACCGAGGA	0.473000													31	44					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25458586	25458586	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:25458586C>T	ENST00000264709.3	-	22	2924	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	DNMT3A_ENST00000380746.4_Missense_Mutation_p.E674K|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E863K|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E640K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	863					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.C861_R866del(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTCCATTTCAGTGCACCAT	0.512000			"""Mis, F, N, S"""		AML								24	44					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381318	102381318	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:102381318G>A	ENST00000419462.1	+	0	730					NR_002182.1																						AATTGATGAAGAACCAGTCAG	0.473000													22	74					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124293420	124293420	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:124293420G>C	ENST00000409039.3	+	18	2735	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	904	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GACGGCACCTGAGATCATCCT	0.468000													101	207					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832678	131832678	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:131832678C>G	ENST00000359827.3	-	27	5807	c.4845G>C	c.(4843-4845)agG>agC	p.R1615S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1615S			Q9HCM2	PLXA4_HUMAN	plexin A4	1615						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGCTGAGGTCCTGGAGACGG	0.537000													22	48					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13167528	13167528	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:13167528C>G	ENST00000378748.3	+	11	1471	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	OPTN_ENST00000378752.3_Nonsense_Mutation_p.S364*|OPTN_ENST00000378747.3_Nonsense_Mutation_p.S370*|OPTN_ENST00000378764.2_Nonsense_Mutation_p.S364*|OPTN_ENST00000378757.2_Nonsense_Mutation_p.S370*|OPTN_ENST00000263036.5_Nonsense_Mutation_p.S370*	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	370					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			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGCATGCTATCAGAAATCAAA	0.398000													20	74					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39531042	39531042	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:39531042C>T	ENST00000537403.1	-	9	2028	c.826G>A	c.(826-828)Gca>Aca	p.A276T	SEC23A_ENST00000536508.1_Missense_Mutation_p.A352T|SEC23A_ENST00000545328.2_Missense_Mutation_p.A449T|SEC23A_ENST00000307712.6_Missense_Mutation_p.A478T			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	478					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AACTGGATTGCACCACGCCCT	0.403000													30	65					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21991877	21991877	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:21991877G>C	ENST00000268379.4	+	13	1898	c.1134G>C	c.(1132-1134)ctG>ctC	p.L378L	UQCRC2_ENST00000561553.1_Intron	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	378					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GGAACAAGCTGAAAGCTGGAT	0.468000													22	33					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531776	6531776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:6531776G>A	ENST00000361413.3	-	3	737	c.379C>T	c.(379-381)Caa>Taa	p.Q127*	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	127						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGAGAGCTTTGAGGCTGACTT	0.433000													15	33					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10523102	10523102	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:10523102G>A	ENST00000444303.2	+	11	1802	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Missense_Mutation_p.A612T	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	603					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTTCCTCACTGCTGACAACAT	0.642000													24	56					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280781	47280781	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:47280781C>G	ENST00000271153.4	+	8	951	c.915C>G	c.(913-915)ctC>ctG	p.L305L	CYP4B1_ENST00000371923.4_Silent_p.L306L|CYP4B1_ENST00000452782.2_Silent_p.L143L|CYP4B1_ENST00000371919.4_Silent_p.L291L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	305					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ATGCAGACCTCCGGGCTGAAG	0.502000													17	51					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408470	2408470	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:2408470C>T	ENST00000332578.3	+	7	857	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	286	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTGTACAACGCGGACACGGCC	0.672000													55	127					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141609294	141609294	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:141609294G>C	ENST00000389484.3	-	28	5609	c.4638C>G	c.(4636-4638)atC>atG	p.I1546M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1546					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TATTGTGATTGATTAGACACA	0.433000										TSP Lung(27;0.18)			34	77					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152560832	152560832	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:152560832G>T	ENST00000367255.5	-	108	20504	c.19903C>A	c.(19903-19905)Cag>Aag	p.Q6635K	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6247K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6564K|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1159K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6564K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6635K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6635					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			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)		TCCAGGCCCTGAAAGTATTCC	0.423000										HNSCC(10;0.0054)			11	15					0.000151284	0.000153814	1	1	0
LHFPL2	10184	broad.mit.edu	37	5	77784877	77784877	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:77784877C>G	ENST00000380345.2	-	5	1205	c.530G>C	c.(529-531)gGa>gCa	p.G177A	LHFPL2_ENST00000515007.2_Missense_Mutation_p.G177A	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	177						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGCAGTCTCCAGGTTTGTA	0.512000													31	46					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035003	107035003	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:107035003G>A	ENST00000390626.2	-	0	135																											CTCTGCTCCAGACTGCACCAG	0.562000													9	33					0	0	1	0	0
MYL6B	140465	broad.mit.edu	37	12	56547837	56547837	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:56547837G>A	ENST00000553066.1	+	2	557	c.135G>A	c.(133-135)caG>caA	p.Q45Q	MYL6B_ENST00000207437.5_Silent_p.Q45Q|MYL6B_ENST00000550443.1_Silent_p.Q45Q|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000552568.1_Silent_p.Q45Q			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	45					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGCCCCTCAGAAAACCCAGG	0.587000													10	41					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110729593	110729593	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:110729593G>C	ENST00000368924.3	-	3	324	c.309C>G	c.(307-309)ctC>ctG	p.L103L	DDO_ENST00000368923.3_Silent_p.L103L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	75					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAATTGCAAAGAGGTGATTAA	0.393000													16	58					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948755	38948755	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:38948755G>C	ENST00000355481.4	+	18	2121	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E664Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E664Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	664	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATGGTACTTTGAGGTGATGGT	0.627000													31	85					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57322854	57322854	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:57322854G>C	ENST00000284116.4	+	3	402	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	GDPD1_ENST00000581140.1_Missense_Mutation_p.E89Q|GDPD1_ENST00000581276.1_Missense_Mutation_p.E89Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	89	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTCACATGATGAGAATCTAAA	0.348000													18	34					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17373573	17373573	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:17373573G>C	ENST00000242057.4	+	7	1386	c.743G>C	c.(742-744)gGa>gCa	p.G248A		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	248					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TATCTTCATGGACAGAAAAAG	0.353000													17	31					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336806	126336806	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:126336806C>A	ENST00000394329.3	+	5	6701	c.6688C>A	c.(6688-6690)Cag>Aag	p.Q2230K	FAT4_ENST00000335110.5_Missense_Mutation_p.Q528K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2230	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTAACTGTTCAGGCAACAGA	0.443000													31	65					9.65021e-13	1.02099e-12	1	1	0
LYST	1130	broad.mit.edu	37	1	235827817	235827817	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:235827817C>G	ENST00000389794.3	-	51	11317	c.11143G>C	c.(11143-11145)Gag>Cag	p.E3715Q	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E3715Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3715					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATACTCCCTCAGGCTGGTTG	0.468000													20	31					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879026	151879026	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:151879026C>T	ENST00000355193.2	-	36	6137	c.5919G>A	c.(5917-5919)gtG>gtA	p.V1973V	KMT2C_ENST00000262189.6_Silent_p.V1973V					lysine (K)-specific methyltransferase 2C									p.V1973V(1)									GATCTGTCATCACAGGCCTAG	0.468000													98	204					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921605	150921605	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:150921605G>A	ENST00000271640.5	+	11	1465	c.1275G>A	c.(1273-1275)gtG>gtA	p.V425V	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.V425V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGGTGCTGTGAGGAGCAAAG	0.473000													22	42					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24873930	24873930	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:24873930G>A	ENST00000347898.3	+	3	766	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SLC5A11_ENST00000567758.1_Silent_p.V48V|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000424767.2_Silent_p.V48V|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000539472.1_5'UTR|SLC5A11_ENST00000545376.1_Silent_p.V48V|SLC5A11_ENST00000568579.1_Silent_p.V48V|SLC5A11_ENST00000449109.2_5'UTR	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	48					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGTCCACAGTGAAGACCAAAA	0.478000													13	19					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69079862	69079862	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:69079862C>T	ENST00000465139.2	-	3	360	c.217G>A	c.(217-219)Gat>Aat	p.D73N	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.D73N	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	73					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						ACTCTGTTATCGCTTAGTTCA	0.463000													15	61					0	0	1	0	0
RAB9B	51209	broad.mit.edu	37	X	103080336	103080336	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:103080336C>T	ENST00000243298.2	-	3	663	c.379G>A	c.(379-381)Gac>Aac	p.D127N		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	127					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TCCTCTTTGTCTACCTTGTTA	0.433000													98	59					0	0	1	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240772	26240772	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:26240772G>A	ENST00000377745.2	+	1	212	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	40					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGCTTGGCCCGACGCGGCGGC	0.582000													9	32					0	0	1	0	0
RP4-583P15.15	0	broad.mit.edu	37	20	62366842	62366842	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:62366842G>A	ENST00000490623.2	+	5	1040	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K	ZGPAT_ENST00000355969.6_Silent_p.Q441Q|ZGPAT_ENST00000328969.5_Silent_p.Q461Q|ZGPAT_ENST00000357119.4_Silent_p.Q432Q|ZGPAT_ENST00000369967.3_Silent_p.Q441Q|ZGPAT_ENST00000448100.2_Silent_p.Q441Q																							GGCTCTTCCAGACTGAGGAGA	0.677000													13	25					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64178828	64178828	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:64178828C>G	ENST00000261234.6	+	3	562	c.404C>G	c.(403-405)tCa>tGa	p.S135*	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	135						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAGGAAAGTCAATCGTAGGA	0.368000													9	34					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249587	177249587	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:177249587C>G	ENST00000361539.4	+	8	1587	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	425																	AGTCCCTCCTCTACTGTGGGG	0.532000													30	53					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6805382	6805382	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:6805382G>C	ENST00000403107.1	+	6	1006	c.619G>C	c.(619-621)Gac>Cac	p.D207H	RSPH10B2_ENST00000404077.1_Missense_Mutation_p.D207H|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.D207H|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.D207H					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GTACGAGGGAGACTGGGTACA	0.443000													12	50					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76107351	76107351	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:76107351C>G	ENST00000238667.4	+	7	1645	c.1289C>G	c.(1288-1290)aCg>aGg	p.T430R	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.T145R|FLVCR2_ENST00000539311.1_Missense_Mutation_p.T225R	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	430			T -> M (in PVHH).|T -> R (in PVHH).		transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGGAGCTCACGTACCCAGAA	0.493000													18	77					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711499	135711499	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:135711499G>A	ENST00000264157.5	+	9	1504	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	CCNT2_ENST00000295238.6_Missense_Mutation_p.E492K|CCNT2_ENST00000537343.1_Missense_Mutation_p.E317K	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	492					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			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CGCAAATACTGAAAAATACAT	0.423000													10	28					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179109794	179109794	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:179109794G>C	ENST00000471841.1	+	18	2299	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	MFN1_ENST00000263969.5_Missense_Mutation_p.E725Q|MFN1_ENST00000280653.7_Missense_Mutation_p.E614Q	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	725					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACTTGAAAATGAGCTGGAGAA	0.313000													7	15					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76721522	76721522	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:76721522G>C	ENST00000538159.1	+	16	1609	c.1609G>C	c.(1609-1611)Gaa>Caa	p.E537Q	USO1_ENST00000514213.2_Missense_Mutation_p.E513Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	528	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAAATTGCAGAAAATCTTGG	0.348000													6	6					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425429	74425429	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:74425429G>A	ENST00000429990.1	+	7	879	c.783G>A	c.(781-783)ctG>ctA	p.L261L						nuclear pore complex interacting protein family, member B15																		ATAACTCCCTGAGCCTCAAGA	0.522000													13	99					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50400866	50400866	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:50400866C>T	ENST00000217086.4	-	4	3211	c.3100G>A	c.(3100-3102)Gac>Aac	p.D1034N	SALL4_ENST00000395997.3_Missense_Mutation_p.D597N|SALL4_ENST00000371539.3_Missense_Mutation_p.D257N	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1034					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAACGCCGTCAGTAGCACTT	0.522000													24	82					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716494	45716494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:45716494G>C	ENST00000413988.1	-	10	1103	c.1063C>G	c.(1063-1065)Cgg>Ggg	p.R355G	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R355G	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	355										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCACGGTCCCGAGGGGGTGAC	0.687000													9	34					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6968694	6968694	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:6968694C>T	ENST00000229268.8	+	9	1171	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	USP5_ENST00000389231.5_Silent_p.F373F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	373					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCCAGGATTTCAGCACCCAGG	0.547000													30	70					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	313770	313770	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:313770G>C	ENST00000399932.3	+	10	1635	c.1184G>C	c.(1183-1185)aGa>aCa	p.R395T	ITFG3_ENST00000600536.1_Missense_Mutation_p.R395T|ITFG3_ENST00000450082.2_Missense_Mutation_p.R395T|ITFG3_ENST00000301678.3_Missense_Mutation_p.R395T|ITFG3_ENST00000442458.2_Missense_Mutation_p.R395T|ITFG3_ENST00000301679.2_Missense_Mutation_p.R395T	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	395						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGCACCGACAGACAGGTTCGT	0.557000													18	24					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176965440	176965440	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:176965440G>A	ENST00000406506.2	+	2	837	c.765G>A	c.(763-765)atG>atA	p.M255I	HOXD12_ENST00000404162.2_3'UTR			P35452	HXD12_HUMAN	homeobox D12	255						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACAGGCGTATGAAGAAGAAGC	0.567000													12	38					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154145441	154145441	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:154145441G>C	ENST00000389740.2	-	2	1137	c.1038C>G	c.(1036-1038)ttC>ttG	p.F346L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	346						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTAGAAAGCTGAATGTCTCCA	0.512000													14	38					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	801976	801976	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:801976C>G	ENST00000347755.5	-	7	1432	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	PIDD_ENST00000411829.2_Missense_Mutation_p.E431Q	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	431	Peptidase S68.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TGGGGTGCCTCTTCCTCCAGG	0.682000													3	9					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105992001	105992001	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:105992001C>T	ENST00000357060.3	-	1	119	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	WDR96_ENST00000278064.2_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.A2T|WDR96_ENST00000369720.1_5'UTR|WDR96_ENST00000369719.1_5'UTR	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	2										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGGCCTTGCGCCATGGGCAGT	0.746000													4	15					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542756	26542756	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:26542756G>A	ENST00000381655.2	+	35	3458	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E1041K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1066					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGAGGTGCAGGAGCTGGAAAC	0.532000													20	40					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77423861	77423861	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:77423861A>G	ENST00000255194.6	-	17	2136	c.1961T>C	c.(1960-1962)aTa>aCa	p.I654T	AP3B1_ENST00000519295.1_Missense_Mutation_p.I605T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	654					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			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)		TACCAACTCTATTACTTCTAC	0.383000									Hermansky-Pudlak syndrome				20	28					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796191	4796191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:4796191G>T	ENST00000266544.5	+	11	1071	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	NDUFA9_ENST00000540688.1_Nonsense_Mutation_p.E110*|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	351					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CAAGGCCATTGAGGTGCTGCG	0.517000													6	34					0.0215528	0.0217057	1	1	0
ASCL4	121549	broad.mit.edu	37	12	108169067	108169067	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:108169067G>A	ENST00000342331.4	+	1	906	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	24					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						TGGGCGTTCCGGGGACCCTGC	0.701000													31	62					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254993	3254993	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:3254993C>T	ENST00000304646.2	+	1	747	c.747C>T	c.(745-747)ctC>ctT	p.L249L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTGTGGTTCTCCTCTTCTACA	0.488000													42	68					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793453	52793453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:52793453C>T	ENST00000439461.1	+	4	452	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Nonsense_Mutation_p.Q152*|ZNF766_ENST00000593612.1_Nonsense_Mutation_p.Q152*	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAATCAAGTTCAAAAGTTCAT	0.358000													12	41					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167325	89167325	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:89167325C>T	ENST00000317447.4	+	3	613	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.S79F	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	79					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTTCGCCTGTCCCAGGAGATC	0.647000													27	83					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43190562	43190562	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:43190562G>C	ENST00000252050.4	+	38	7162	c.7078G>C	c.(7078-7080)Gag>Cag	p.E2360Q	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.E2250Q|CUL9_ENST00000372647.2_Missense_Mutation_p.E2332Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2360					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCAGGACGCAGAGTACATGGA	0.632000													42	91					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25937225	25937225	+	Splice_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:25937225G>C	ENST00000398988.3	+	19	2457		c.e19+1		KSR1_ENST00000319524.6_Splice_Site|KSR1_ENST00000268763.6_Splice_Site|KSR1_ENST00000582410.1_Splice_Site|KSR1_ENST00000509603.2_Splice_Site	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1						Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATGCATTTGGGTGAGTAGGCC	0.582000											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	83					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105425607	105425607	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:105425607C>T	ENST00000258494.9	-	20	2490	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	784	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACTCCAGTTTCACAGTATTGC	0.483000													30	67					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23713787	23713787	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:23713787C>A	ENST00000450454.2	-	9	1051	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	315					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			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)		TGCAGTTCTTCTTCTTGCATT	0.572000													16	27					7.21436e-19	7.76791e-19	1	1	0
MRAP2	112609	broad.mit.edu	37	6	84765049	84765049	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:84765049G>C	ENST00000257776.4	+	2	147	c.12G>C	c.(10-12)caG>caC	p.Q4H		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	4					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCCGCCCAGAGGTTAATTT	0.433000													19	46					0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52027803	52027803	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:52027803G>C	ENST00000466397.1	-	4	582	c.442C>G	c.(442-444)Ccc>Gcc	p.P148A	RPL29_ENST00000475248.1_Missense_Mutation_p.P148A|RPL29_ENST00000479017.1_Missense_Mutation_p.P148A|RPL29_ENST00000495383.1_Missense_Mutation_p.P148A|RPL29_ENST00000294189.6_Missense_Mutation_p.P148A			P47914	RL29_HUMAN	ribosomal protein L29	148					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTACGTTTGGGAGCCTGAGCT	0.627000													27	87					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30566938	30566938	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:30566938G>C	ENST00000395091.2	-	3	1116	c.801C>G	c.(799-801)ttC>ttG	p.F267L	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.F268L			Q96H86	ZN764_HUMAN	zinc finger protein 764	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGCTCTGGCTGAAGCGGCGGC	0.716000													3	4					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21013867	21013867	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:21013867C>T	ENST00000382812.1	-	5	465	c.237G>A	c.(235-237)ctG>ctA	p.L79L	CRYL1_ENST00000298248.7_Silent_p.L101L|CRYL1_ENST00000480748.1_5'UTR			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	101					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TCTTCTTCTTCAGTTCTAGAT	0.408000													24	70					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125325	126125325	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:126125325C>T	ENST00000373631.3	+	2	277	c.276C>T	c.(274-276)ttC>ttT	p.F92F	CRB2_ENST00000359999.3_Silent_p.F92F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	92	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACCGGCTTCCGCTGCTACT	0.692000													18	66					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89180833	89180833	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:89180833A>G	ENST00000317447.4	+	6	1441	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.Y90C|ACSF3_ENST00000406948.3_Missense_Mutation_p.Y355C	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	355					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTGGAGCGGTATGGCATGACC	0.642000													39	152					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990621	33990621	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:33990621C>T	ENST00000373381.4	-	66	10433	c.10257G>A	c.(10255-10257)aaG>aaA	p.K3419K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3275						integral to membrane|plasma membrane	protein binding			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)				ACAGGGAATTCTTGGCAAAAA	0.502000													39	127					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37620707	37620707	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr21:37620707G>C	ENST00000399151.3	+	21	4924	c.4839G>C	c.(4837-4839)ttG>ttC	p.L1613F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1613					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGCCAACTTGAGGAATGCCA	0.473000													31	81					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153634910	153634910	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:153634910G>C	ENST00000361891.4	-	14	1260	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	379					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			tcctctccttgaggtggttct	0.488000													11	27					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	294307	294307	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:294307C>G	ENST00000397962.3	+	13	1687	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	ZMYND11_ENST00000381602.4_Missense_Mutation_p.S380C|ZMYND11_ENST00000381584.1_Missense_Mutation_p.S403C|ZMYND11_ENST00000381607.4_Missense_Mutation_p.S326C|ZMYND11_ENST00000403354.1_Missense_Mutation_p.S340C|ZMYND11_ENST00000397959.3_Missense_Mutation_p.S335C|ZMYND11_ENST00000545619.1_Missense_Mutation_p.S300C|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S420C|ZMYND11_ENST00000381591.1_Missense_Mutation_p.S420C|ZMYND11_ENST00000602682.1_Missense_Mutation_p.S335C|ZMYND11_ENST00000381604.4_Missense_Mutation_p.S380C|ZMYND11_ENST00000402736.1_Missense_Mutation_p.S389C|ZMYND11_ENST00000509513.2_Missense_Mutation_p.S419C|ZMYND11_ENST00000309776.4_Missense_Mutation_p.S380C|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000535374.1_Missense_Mutation_p.S215C			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	380	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCAGTAAGTTCTAGCCAGGAA	0.468000													63	77					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6170532	6170532	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:6170532G>C	ENST00000262450.3	-	37	5403	c.5304C>G	c.(5302-5304)ctC>ctG	p.L1768L	CHD5_ENST00000378021.1_Silent_p.L625L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1768					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGGGCTCGTTGAGGATCATGT	0.572000													18	64					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228494791	228494791	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:228494791G>C	ENST00000570156.2	+	56	15061	c.14987G>C	c.(14986-14988)gGa>gCa	p.G4996A	OBSCN_ENST00000366707.4_Missense_Mutation_p.G1673A|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4039A|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4039A|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1158A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4039					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			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)				CTGGTACGCGGAGTGGAGCAG	0.642000													20	36					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677376	55677376	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:55677376G>A	ENST00000527223.2	-	3	283	c.282C>T	c.(280-282)atC>atT	p.I94I	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Intron|DNAAF3_ENST00000391720.4_Intron	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	28																	GACCTGGCAAGATGACAGCTG	0.597000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26776254	26776254	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr22:26776254C>G	ENST00000529632.2	+	16	3231	c.3035C>G	c.(3034-3036)tCt>tGt	p.S1012C	SEZ6L_ENST00000403121.1_Missense_Mutation_p.S719C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S948C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S947C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S795C|SEZ6L_ENST00000411842.2_3'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S1023C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S1022C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	1023						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TATGAGGTTTCTATCTAAAGA	0.458000													37	105					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092809	27092809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:27092809C>T	ENST00000324856.7	+	9	3201	c.2830C>T	c.(2830-2832)Cag>Tag	p.Q944*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q944*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q561*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	944					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q944*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATCAACCCTCAGGGACCCCC	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								27	59					0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143746288	143746288	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:143746288G>A	ENST00000507178.2	-	0	1522									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ctcctcctcagaggaggagcc	0.622000													4	14					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560546	35560546	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:35560546G>C	ENST00000455600.1	+	10	4478	c.3909G>C	c.(3907-3909)aaG>aaC	p.K1303N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1303						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCGAGAAAAAGAAAGGGGCAG	0.642000													15	41					0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6942600	6942600	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrY:6942600G>A	ENST00000383032.1	+	13	1541		c.e13-1		TBL1Y_ENST00000355162.2_Splice_Site|TBL1Y_ENST00000346432.3_Splice_Site	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked						transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GCGGAGCACAGACAACAATAA	0.358000													28	19					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7550886	7550886	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:7550886C>A	ENST00000313599.3	-	7	1760	c.1703G>T	c.(1702-1704)aGa>aTa	p.R568I	CD163L1_ENST00000416109.2_Missense_Mutation_p.R578I|CD163L1_ENST00000396630.1_Missense_Mutation_p.R568I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	568	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACATCCTCTCTGTGTACACA	0.408000													22	47					1.36565e-18	1.46919e-18	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58565904	58565904	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:58565904C>T	ENST00000317147.5	-	42	6467	c.6135G>A	c.(6133-6135)cgG>cgA	p.R2045R	CNOT1_ENST00000245138.4_Silent_p.R896R|CNOT1_ENST00000569240.1_Silent_p.R2040R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2045					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATAAATATCCGATGGGAAA	0.428000													20	65					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	153998570	153998570	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:153998570C>T	ENST00000496811.1	-	21	2538	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	DHX36_ENST00000329463.5_Missense_Mutation_p.E806K|DHX36_ENST00000308361.6_Missense_Mutation_p.E791K|DHX36_ENST00000544526.1_Missense_Mutation_p.E806K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	820						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATATTAGATTCTGGATCTTTA	0.368000													8	23					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32672864	32672864	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:32672864G>A	ENST00000537469.1	+	5	869	c.822G>A	c.(820-822)ctG>ctA	p.L274L	IQCC_ENST00000291358.6_Silent_p.L194L	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	194										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAAACACTGAGATCCCCAG	0.572000													41	114					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428026	74428026	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:74428026C>A	ENST00000334571.2	+	9	1082	c.1042C>A	c.(1042-1044)Ctt>Att	p.L348I	COQ6_ENST00000394026.4_Missense_Mutation_p.L323I|COQ6_ENST00000238709.4_Missense_Mutation_p.L273I|COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	348					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TCTGTTTCCTCTTGGGTTGGG	0.587000													9	55					1.76689e-08	1.83143e-08	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40122579	40122579	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:40122579G>A	ENST00000261435.6	+	9	3264	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	950						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGGAAGTTCTGAAATGCTGCT	0.418000													15	17					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959255	10959255	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:10959255G>A	ENST00000240615.2	-	1	637	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	109					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTATCTTCAGAAAATAGAAG	0.383000													13	53					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139845347	139845347	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:139845347C>G	ENST00000303045.6	-	5	1226	c.780G>C	c.(778-780)aaG>aaC	p.K260N	COL22A1_ENST00000435777.1_Missense_Mutation_p.K260N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	260	TSP N-terminal.				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)			CATTCTCTCTCTTCCCCAAGA	0.483000										HNSCC(7;0.00092)			21	53					0	0	1	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519426	28519426	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:28519426C>G	ENST00000381026.3	+	1	84	c.30C>G	c.(28-30)ctC>ctG	p.L10L																	ovary(1)	1						AGGCTGGACTCAGCTACATCC	0.478000													3	27					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502251	12502251	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:12502251G>C	ENST00000419318.1	-	4	1614	c.865C>G	c.(865-867)Ctg>Gtg	p.L289V	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.L321V			Q96GE5	ZN799_HUMAN	zinc finger protein 799	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGCTTCCCAGATGATGAAAC	0.438000													52	138					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21799933	21799933	+	Silent	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:21799933C>A	ENST00000318220.6	+	10	1675	c.627C>A	c.(625-627)atC>atA	p.I209I	NBPF3_ENST00000318249.5_Silent_p.I265I|NBPF3_ENST00000342104.5_Silent_p.I265I|NBPF3_ENST00000454000.2_Silent_p.I195I			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	265						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTGTGCCATCACTTGTTCAA	0.498000													61	135					2.89935e-36	3.15373e-36	1	1	0
STX1B	112755	broad.mit.edu	37	16	31008045	31008045	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:31008045C>T	ENST00000215095.5	-	7	727	c.496G>A	c.(496-498)Gac>Aac	p.D166N	STX1B_ENST00000565419.1_Missense_Mutation_p.D166N	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	166					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCCAGCATGTCTTCCAGTTCT	0.617000													32	84					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996548	120996548	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:120996548C>A	ENST00000392793.1	+	8	2012	c.1741C>A	c.(1741-1743)Cca>Aca	p.P581T	TECTA_ENST00000264037.2_Missense_Mutation_p.P581T			O75443	TECTA_HUMAN	tectorin alpha	581					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTGGCATTCCAATTGGAGA	0.592000													23	48					7.87624e-14	8.38863e-14	1	1	0
GPR112	139378	broad.mit.edu	37	X	135427927	135427927	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:135427927G>C	ENST00000394143.1	+	6	2353	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E483Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E688Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E625Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E483Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	688					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					AGCATTTCATGAGAATACTAC	0.428000													30	16					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560429	101560429	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:101560429C>T	ENST00000536262.2	-	12	1927	c.1369G>A	c.(1369-1371)Gga>Aga	p.G457R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	457					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTCCAATTCCAACCCATAGA	0.388000													10	17					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545714	65545714	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:65545714G>T	ENST00000532090.2	-	2	2460	c.2250C>A	c.(2248-2250)ctC>ctA	p.L750L		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	693							protein binding			lung(1)	1						CATGGCACGTGAGACCAGTGG	0.667000													24	63					9.86323e-18	1.05932e-17	1	1	0
DCN	1634	broad.mit.edu	37	12	91572192	91572192	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:91572192G>C	ENST00000551354.1	-	2	342	c.138C>G	c.(136-138)ttC>ttG	p.F46L	DCN_ENST00000052754.5_Missense_Mutation_p.F46L|DCN_ENST00000546745.1_Missense_Mutation_p.F46L|DCN_ENST00000303320.3_Missense_Mutation_p.F46L|DCN_ENST00000550099.1_Missense_Mutation_p.F46L|DCN_ENST00000393155.1_Missense_Mutation_p.F46L|DCN_ENST00000420120.2_Missense_Mutation_p.F46L|DCN_ENST00000547568.2_Missense_Mutation_p.F46L|DCN_ENST00000546370.1_Missense_Mutation_p.F46L|DCN_ENST00000441303.2_Missense_Mutation_p.F46L|DCN_ENST00000456569.2_Missense_Mutation_p.F46L|DCN_ENST00000228329.5_Missense_Mutation_p.F46L|DCN_ENST00000552962.1_Missense_Mutation_p.F46L|DCN_ENST00000425043.1_Missense_Mutation_p.F46L			P07585	PGS2_HUMAN	decorin	46					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GGGAGGGCTCGAAGTCGCGGT	0.527000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	99					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832424	113832424	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:113832424G>A	ENST00000393197.2	+	3	664	c.243G>A	c.(241-243)ctG>ctA	p.L81L	IL1F10_ENST00000341010.2_Silent_p.L81L|IL1F10_ENST00000337569.3_Silent_p.L81L	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	81						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CCCTACAGCTGGAGGTGAGAG	0.622000													9	26					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680479	18680479	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:18680479G>C	ENST00000380548.4	+	11	1645	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D436H|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D436H|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D419H	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	436	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAACATTTTTGACTGCCCTAA	0.512000													42	91					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434145	72434145	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:72434145C>T	ENST00000373517.3	-	1	539	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	62					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTATCTTCACCGTTTTCCCCT	0.562000													14	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066895	9066895	+	Missense_Mutation	SNP	C	C	T	rs61995732		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:9066895C>T	ENST00000397910.4	-	3	20754	c.20551G>A	c.(20551-20553)Gaa>Aaa	p.E6851K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GTTGTAGGTTCTGGGCTTGTG	0.483000													29	57					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376858	94376858	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:94376858G>A	ENST00000282020.4	+	11	1849	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	GRID2_ENST00000510992.1_Missense_Mutation_p.E436K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	531					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			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)	TCCAGATCGTGAAAATGTGGT	0.418000													10	59					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080462	5080462	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:5080462G>A	ENST00000321522.2	-	1	395	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGCTATATTGGAGTGGATTGC	0.438000													11	18					0	0	1	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197201	89197201	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:89197201C>T	ENST00000390244.2	+	0	309																											CACCTCGATTCAGTGGCAGCG	0.403000													32	89					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752305	247752305	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:247752305C>T	ENST00000320065.1	+	1	644	c.644C>T	c.(643-645)tCa>tTa	p.S215L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGCCTGTCTCATTCATCCTG	0.522000													22	64					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7025882	7025882	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:7025882C>G	ENST00000535366.1	+	3	855	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	ENO2_ENST00000545045.2_Missense_Mutation_p.L77V|ENO2_ENST00000544774.1_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.L77V|ENO2_ENST00000229277.1_Missense_Mutation_p.L77V|ENO2_ENST00000538763.1_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	77					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CGCGCCAGCCCTCATCAGCTC	0.622000													30	76					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112025817	112025817	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:112025817C>T	ENST00000371959.3	-	8	2190	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	AMOT_ENST00000371962.1_Missense_Mutation_p.E499K|AMOT_ENST00000524145.1_Missense_Mutation_p.E731K|AMOT_ENST00000371958.1_Missense_Mutation_p.E499K|AMOT_ENST00000304758.1_Missense_Mutation_p.E322K	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	731					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATTTCTTCCTCCTCTTTCTGG	0.473000													44	20					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11757537	11757537	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:11757537G>A	ENST00000262442.4	+	50	9793	c.9725G>A	c.(9724-9726)aGg>aAg	p.R3242K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3242K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAAGCCATCAGGCCGTATCTG	0.498000													65	150					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20611004	20611004	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:20611004C>T	ENST00000382869.3	+	12	2498	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	ZMYM2_ENST00000382871.2_Silent_p.F749F|ZMYM2_ENST00000382883.3_Silent_p.F231F|ZMYM2_ENST00000382874.2_Silent_p.F749F	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGAGAGATTTCTGCAGTGAAG	0.383000													8	15					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8637884	8637884	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:8637884C>T	ENST00000378641.3	+	8	1123	c.648C>T	c.(646-648)ctC>ctT	p.L216L	PLCB1_ENST00000378637.2_Silent_p.L216L|PLCB1_ENST00000338037.6_Silent_p.L216L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	216				L -> F (in Ref. 2; AAF86613).	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			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						GAGTTTTCCTCAACAACCTTT	0.383000													23	74					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27903450	27903450	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:27903450C>G	ENST00000225394.3	-	14	1647	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	GIT1_ENST00000579937.1_Missense_Mutation_p.E467Q|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.E476Q|GIT1_ENST00000581348.1_Missense_Mutation_p.E476Q	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	467					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGCAGGTTCTCCGCCTGCAGC	0.672000													28	62					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78187030	78187030	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:78187030C>G	ENST00000535157.1	+	21	1386	c.1216C>G	c.(1216-1218)Caa>Gaa	p.Q406E	SCEL_ENST00000377246.3_Missense_Mutation_p.Q428E|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000349847.3_Missense_Mutation_p.Q448E	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	448	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTTTAGGAACCAAGACTTGGA	0.289000													12	17					0	0	1	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30371123	30371123	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:30371123G>C	ENST00000409939.3	-	5	1391	c.1311C>G	c.(1309-1311)atC>atG	p.I437M		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	437	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CAGGCCGGTAGATGGTGTAGG	0.662000													6	8					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70778474	70778474	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:70778474C>T	ENST00000261776.5	-	13	1640	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	460					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			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)				CCAGGTCCTTCAGGATCACCT	0.662000													28	49					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941438	153941438	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:153941438G>C	ENST00000368607.3	+	3	473	c.207G>C	c.(205-207)ttG>ttC	p.L69F	CREB3L4_ENST00000368603.1_Missense_Mutation_p.L69F|CREB3L4_ENST00000368601.1_Missense_Mutation_p.L69F|CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L69F|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L49F	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	69					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGATTTCTTGAAGCTTTTCA	0.483000													16	41					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83810076	83810076	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:83810076C>T	ENST00000398309.2	-	5	794	c.324G>A	c.(322-324)ctG>ctA	p.L108L	DLG2_ENST00000531015.1_Silent_p.L75L|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000532653.1_Silent_p.L108L|DLG2_ENST00000280241.8_Silent_p.L147L|DLG2_ENST00000524982.1_Silent_p.L108L|DLG2_ENST00000543673.1_Silent_p.L213L|DLG2_ENST00000418306.2_Silent_p.L57L|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Silent_p.L47L|DLG2_ENST00000398301.2_Silent_p.L147L|DLG2_ENST00000376104.2_Silent_p.L213L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	108	PDZ 1.					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)				TACTGAATCCCAGGCCAGAAT	0.433000													20	34					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205249	236205249	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:236205249G>C	ENST00000264187.6	-	4	1178	c.1096C>G	c.(1096-1098)Cag>Gag	p.Q366E	NID1_ENST00000366595.3_Missense_Mutation_p.Q366E	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	366					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTATGACCTGAGGGTGCTGC	0.542000													16	69					0	0	1	0	0
GCSH	2653	broad.mit.edu	37	16	81118151	81118151	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:81118151G>C	ENST00000315467.3	-	4	465	c.341C>G	c.(340-342)tCt>tGt	p.S114C	GCSH_ENST00000566566.1_Missense_Mutation_p.S114C|RP11-303E16.8_ENST00000564536.1_RNA	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	114						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TGATAAAGGAGAATAGAGTTC	0.333000													6	17					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197030940	197030940	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:197030940G>A	ENST00000367412.1	-	3	468	c.425C>T	c.(424-426)tCt>tTt	p.S142F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	142	Sushi 2.				blood coagulation	extracellular region				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						GGTTGGTTGAGAAGACCATCC	0.373000													14	20					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139279209	139279209	+	Silent	SNP	C	C	T	rs148770130	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:139279209C>T	ENST00000298532.2	-	13	1751	c.1383G>A	c.(1381-1383)gaG>gaA	p.E461E		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	461	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTAACTGTTCCTCTTCTTTTA	0.338000													8	37					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196740421	196740421	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:196740421G>A	ENST00000312428.6	-	38	6364	c.6264C>T	c.(6262-6264)atC>atT	p.I2088I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2088	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGCACACATGATCTGAATGT	0.383000													12	37					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14271011	14271011	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:14271011C>G	ENST00000340736.6	-	9	2025	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.L571L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	576					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGCTCCATCAGCTTCACAG	0.657000													43	89					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94631550	94631550	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:94631550G>A	ENST00000258526.4	+	10	2340	c.2091G>A	c.(2089-2091)ctG>ctA	p.L697L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	697					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAATGATCCTGAAAGGAACCA	0.423000													24	26					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197416	15197416	+	Silent	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:15197416C>A	ENST00000379554.3	+	3	373	c.327C>A	c.(325-327)ctC>ctA	p.L109L	INSC_ENST00000424273.1_Silent_p.L62L|INSC_ENST00000379556.3_Silent_p.L62L|INSC_ENST00000528567.1_Silent_p.L62L|INSC_ENST00000530161.1_Silent_p.L62L|INSC_ENST00000525218.1_Silent_p.L62L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	109					cell differentiation|nervous system development	cytoplasm	binding			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						AGGGTGACCTCATCCTGGCAG	0.617000													21	34					2.37509e-13	2.5191e-13	1	1	0
FGD6	55785	broad.mit.edu	37	12	95483421	95483421	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:95483421G>A	ENST00000343958.4	-	18	4125	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	FGD6_ENST00000546711.1_Missense_Mutation_p.S1301L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1301					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TAAGGCACTTGAAGGAGATTT	0.413000													32	69					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74148318	74148318	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:74148318C>T	ENST00000324896.4	+	16	1747	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	GTF2I_ENST00000353920.4_Missense_Mutation_p.S433L|GTF2I_ENST00000416070.1_Missense_Mutation_p.S412L|GTF2I_ENST00000346152.4_Missense_Mutation_p.S432L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	453					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGCCAGCTTCAGGAGGTAGG	0.363000													24	47					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3428643	3428643	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:3428643G>A	ENST00000356575.4	-	8	1129	c.903C>T	c.(901-903)ctC>ctT	p.L301L	MEGF6_ENST00000294599.4_Silent_p.L196L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	301	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGGGTGTTGAGGCAGCCAT	0.657000													50	105					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73492622	73492622	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:73492622G>A	ENST00000521871.1	-	5	1767	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	FBXO41_ENST00000295133.5_Missense_Mutation_p.S512L|FBXO41_ENST00000520530.2_Missense_Mutation_p.S451L			Q8TF61	FBX41_HUMAN	F-box protein 41	451						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGACCGCTCTGAGCCCCCGTT	0.716000													5	6					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207930511	207930511	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:207930511C>T	ENST00000358170.2	+	2	406	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	CD46_ENST00000357714.1_Missense_Mutation_p.H84Y|CD46_ENST00000367047.1_Intron|CD46_ENST00000367041.1_Missense_Mutation_p.H84Y|CD46_ENST00000322918.5_Missense_Mutation_p.H84Y|CD46_ENST00000480003.1_Missense_Mutation_p.H84Y|CD46_ENST00000360212.2_Missense_Mutation_p.H84Y|CD46_ENST00000354848.1_Missense_Mutation_p.H84Y|CD46_ENST00000322875.4_Missense_Mutation_p.H84Y|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_Missense_Mutation_p.H84Y|CD46_ENST00000367042.1_Missense_Mutation_p.H84Y|CD46_ENST00000441839.2_Missense_Mutation_p.H84Y	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	84	Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGATCGGAATCATACATGGCT	0.373000													35	63					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230120	69230120	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:69230120C>G	ENST00000542259.1	-	22	3070	c.2619G>C	c.(2617-2619)caG>caC	p.Q873H	FRMD4B_ENST00000478263.1_Missense_Mutation_p.Q579H|FRMD4B_ENST00000398540.3_Missense_Mutation_p.Q927H			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	927						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CCAGGCATCTCTGTGATCCCC	0.562000													34	75					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143078702	143078702	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:143078702C>T	ENST00000322764.5	+	2	383	c.38C>T	c.(37-39)tCg>tTg	p.S13L	ZYX_ENST00000449423.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	13					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					ATCTCCGTTTCGGTCTCGGCT	0.716000													14	22					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852722	53852722	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:53852722C>G	ENST00000331251.3	+	1	1732	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	85					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCGACGAGCTCTTCACGCTGG	0.627000													10	26					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949375	56949375	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:56949375G>A	ENST00000497933.1	+	1	155	c.8G>A	c.(7-9)aGa>aAa	p.R3K		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CACATGCTCAGAAGCCCCACC	0.607000													20	39					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58971386	58971386	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr15:58971386C>T	ENST00000260408.3	-	4	864	c.421G>A	c.(421-423)Gag>Aag	p.E141K	ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	141					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ATATATCTCTCTGCTGGCTCA	0.363000													6	7					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1557133	1557133	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:1557133G>A	ENST00000572621.1	-	37	6430	c.6165C>T	c.(6163-6165)atC>atT	p.I2055I	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Silent_p.I2055I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2055						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			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)		TGGTGGAGGTGATGATCTCAT	0.562000													38	125					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530560	97530560	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:97530560G>T	ENST00000305476.5	-	9	976	c.844C>A	c.(844-846)Cgg>Agg	p.R282R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	282	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CATGCCAGCCGCGCCTTCAGG	0.657000													17	45					0.000566183	0.000574734	1	1	0
DOCK8	81704	broad.mit.edu	37	9	334236	334236	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:334236G>C	ENST00000432829.2	+	11	1249	c.933G>C	c.(931-933)aaG>aaC	p.K311N	DOCK8_ENST00000453981.1_Missense_Mutation_p.K379N|DOCK8_ENST00000469391.1_Missense_Mutation_p.K311N	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	379					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTAAAGAAAAGATTGAAAAAC	0.438000													13	27					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18296069	18296069	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:18296069C>G	ENST00000377671.3	+	7	1130	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	ZNF133_ENST00000396026.3_Missense_Mutation_p.Q195E|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q192E|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q97E|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q129E|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q97E|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q192E|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	192						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CAGCCCAGCTCAGTCAGGGAA	0.537000													41	119					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125467119	125467119	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:125467119C>T	ENST00000308736.2	-	3	425	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	109							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGAGTCTCATCTCAGCTTCGG	0.507000													102	242					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48818500	48818500	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:48818500G>C	ENST00000505658.1	+	4	433	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	LUC7L3_ENST00000544170.1_Missense_Mutation_p.E6Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.E82Q|LUC7L3_ENST00000240304.1_Missense_Mutation_p.E82Q			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	82					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGTTGGCTATGAGAGAGATTT	0.393000													37	89					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124749718	124749718	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:124749718G>C	ENST00000397801.1	+	26	4024	c.3832G>C	c.(3832-3834)Gag>Cag	p.E1278Q	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Missense_Mutation_p.E41Q|ROBO3_ENST00000538940.1_Missense_Mutation_p.E1256Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1278					axon midline choice point recognition	integral to membrane	receptor activity			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)		GCCAGAGGAAGAGGCGAGCTG	0.657000													17	36					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270981	65270981	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:65270981G>A	ENST00000534336.1	+	0	5749					NR_002819.2																						TCTATGAAAGGAATAGCATGA	0.308000													13	58					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931576	116931576	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:116931576C>A	ENST00000356083.3	+	3	2132	c.1741C>A	c.(1741-1743)Cag>Aag	p.Q581K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	581	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGACAGCCCCAGCCCAGTCA	0.662000													41	125					1.15505e-17	1.23949e-17	1	1	0
FADS3	3995	broad.mit.edu	37	11	61645631	61645631	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:61645631G>A	ENST00000540820.1	-	6	876	c.804C>T	c.(802-804)ttC>ttT	p.F268F	FADS3_ENST00000278829.2_Silent_p.F268F|FADS3_ENST00000527697.1_Silent_p.F144F|FADS3_ENST00000525588.1_Silent_p.F240F			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	268					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACTCACTCAGGAAGAAGTACA	0.612000													42	128					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:33600726G>A	ENST00000170564.2	+	11	1703	c.1389G>A	c.(1387-1389)agG>agA	p.R463R		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													24	67					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19490763	19490763	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:19490763C>G	ENST00000375267.2	-	33	4687	c.4684G>C	c.(4684-4686)Gat>Cat	p.D1562H	UBR4_ENST00000375226.2_Missense_Mutation_p.D1562H|UBR4_ENST00000375254.3_Missense_Mutation_p.D1562H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1562H			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1562					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCAGCCAATCCACAGCAGCA	0.468000													7	23					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49037966	49037966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:49037966C>T	ENST00000267163.4	+	21	2344	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	736	Domain B.|Pocket; binds T and E1A.				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.?(10)|p.I703_E737del(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)	TCATGCTGTTCAGGAGGTAGG	0.308000		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)			9	15					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33680544	33680544	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:33680544C>A	ENST00000252015.2	-	1	130	c.41G>T	c.(40-42)cGa>cTa	p.R14L	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R14L|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R14L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	14	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGTCTCCCTCGGCCGGCTCC	0.721000													6	8					8.12818e-05	8.27067e-05	1	1	0
AGAP3	116988	broad.mit.edu	37	7	150835352	150835352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:150835352C>T	ENST00000397238.2	+	12	1618	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	504	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CAGCGCCGACCAGTGGAGTGA	0.692000													13	25					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27169835	27169835	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:27169835G>A	ENST00000360046.5	-	1	583	c.518C>T	c.(517-519)cCc>cTc	p.P173L	HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.P173L|HOXA-AS3_ENST00000518848.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	173	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGGGCAcgcgggggcgctgcc	0.766000													3	9					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65237850	65237850	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr2:65237850C>T	ENST00000234256.3	+	4	996	c.753C>T	c.(751-753)ttC>ttT	p.F251F	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Silent_p.F31F	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	251					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCCGTTTCTTCAATTCCCTCA	0.498000													25	67					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662512	49662512	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:49662512G>A	ENST00000296452.4	+	2	443	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	110					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R110Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGAGCCCCCGAGAGACAAGG	0.642000													20	37					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21620514	21620514	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:21620514G>C	ENST00000538582.1	+	11	1756	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	PYROXD1_ENST00000240651.9_Missense_Mutation_p.E406Q			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	406							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTTCAGCTTTGAACTGTTTGC	0.403000													26	54					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31815349	31815349	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:31815349G>C	ENST00000375454.3	+	7	901	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	BPIFA3_ENST00000375452.3_Missense_Mutation_p.E195Q|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	231						extracellular region	lipid binding										TACAGAACAGGAGGCTGCTCA	0.562000													35	81					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89590445	89590445	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:89590445G>A	ENST00000268704.2	+	4	423	c.408G>A	c.(406-408)caG>caA	p.Q136Q	SPG7_ENST00000341316.2_Silent_p.Q136Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	136					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGGACGACCAGATGTACCGAG	0.587000													40	33					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196865173	196865173	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:196865173G>T	ENST00000346964.2	-	10	1091	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	DLG1_ENST00000422288.1_Missense_Mutation_p.S250Y|DLG1_ENST00000357674.4_Missense_Mutation_p.S268Y|DLG1_ENST00000443183.1_Missense_Mutation_p.S185Y|DLG1_ENST00000314062.3_Missense_Mutation_p.S250Y|DLG1_ENST00000419354.1_Missense_Mutation_p.S301Y|DLG1_ENST00000450955.1_Missense_Mutation_p.S268Y|DLG1_ENST00000448528.2_Missense_Mutation_p.S301Y|DLG1_ENST00000392382.2_Missense_Mutation_p.S268Y|DLG1_ENST00000452595.1_Missense_Mutation_p.S185Y	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	301	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GCGTACAATAGACCCTGCTTC	0.358000													14	22					3.52763e-06	3.62412e-06	1	1	0
SPO11	23626	broad.mit.edu	37	20	55918416	55918416	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr20:55918416C>G	ENST00000371263.3	+	13	1200	c.1091C>G	c.(1090-1092)tCt>tGt	p.S364C	SPO11_ENST00000345868.4_Missense_Mutation_p.S326C|SPO11_ENST00000371260.4_Missense_Mutation_p.S322C	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	364					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			ATGGCAGACTCTAAAATGAAG	0.313000								Editing and processing nucleases					16	38					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121187186	121187186	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:121187186G>C	ENST00000264233.5	-	23	6939	c.6811C>G	c.(6811-6813)Caa>Gaa	p.Q2271E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2271					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTACAGCTTGAGAAGGTGGG	0.388000								DNA polymerases (catalytic subunits)					30	73					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535832	145535832	+	Silent	SNP	C	C	A	rs139202082		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr8:145535832C>A	ENST00000528838.1	+	9	1204	c.1044C>A	c.(1042-1044)ctC>ctA	p.L348L	HSF1_ENST00000400780.4_Silent_p.L283L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	348						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TCACAGCCCTCACGGACGCCA	0.697000													16	46					1.5739e-10	1.64339e-10	1	1	0
MYNN	55892	broad.mit.edu	37	3	169496678	169496678	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:169496678C>T	ENST00000349841.5	+	3	1052	c.389C>T	c.(388-390)tCt>tTt	p.S130F	MYNN_ENST00000356716.4_Missense_Mutation_p.S130F|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.S130F|MYNN_ENST00000544106.1_Missense_Mutation_p.S130F	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	130						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACAGAGATATCTAGTATTACT	0.343000													16	31					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74678298	74678298	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr16:74678298C>T	ENST00000361070.4	-	6	1138	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	RFWD3_ENST00000571750.1_Silent_p.L347L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	347					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCAAAGCTCTCAGGGTTCGGG	0.468000													51	129					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548674	47548674	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:47548674C>T	ENST00000273859.3	+	10	1699	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F	ATP10D_ENST00000504445.1_Missense_Mutation_p.S462F	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	477					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAGCTGTCTCTGAAGATGAA	0.473000													28	37					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8793350	8793350	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:8793350G>A	ENST00000447110.1	-	8	875	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	PIK3R5_ENST00000581552.1_Missense_Mutation_p.R251W|PIK3R5_ENST00000584803.1_Missense_Mutation_p.R251W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	251				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGAGCCACCGCCGGGCCTCT	0.617000													36	71					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37883949	37883949	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:37883949G>A	ENST00000406381.2	+	29	3840	c.3330G>A	c.(3328-3330)gtG>gtA	p.V1110V	ERBB2_ENST00000540147.1_Silent_p.V1110V|ERBB2_ENST00000269571.5_Silent_p.V1140V|ERBB2_ENST00000541774.1_Silent_p.V1125V|ERBB2_ENST00000445658.2_Silent_p.V864V|ERBB2_ENST00000584450.1_Silent_p.*1056*|ERBB2_ENST00000584601.1_Silent_p.V1110V	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1140					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGAATATGTGAACCAGCCAG	0.622000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			16	34					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12419617	12419617	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr12:12419617C>G	ENST00000261349.4	-	1	129	c.53G>C	c.(52-54)aGa>aCa	p.R18T	LRP6_ENST00000543091.1_Missense_Mutation_p.R18T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	18					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTTCCCACCTCTCAGGAGCAC	0.632000													6	20					0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18684538	18684538	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:18684538C>G	ENST00000442744.2	+	3	228	c.170C>G	c.(169-171)tCa>tGa	p.S57*	UBA52_ENST00000599595.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000596304.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000596273.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000598780.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000595683.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000599551.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000597451.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000595158.1_Nonsense_Mutation_p.S57*|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000430157.2_Nonsense_Mutation_p.S57*	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	57	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						CGCACTCTCTCAGACTACAAC	0.592000													19	52					0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95658335	95658335	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr10:95658335G>A	ENST00000371408.3	+	2	244	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SLC35G1_ENST00000427197.1_Silent_p.K62K			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	62						integral to membrane											CAGAAGCCAAGAAGAAAGCAC	0.383000													17	19					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210016851	210016851	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:210016851C>G	ENST00000491415.2	+	11	1894	c.1837C>G	c.(1837-1839)Cac>Gac	p.H613D		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	613					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGTCATGTCTCACACGCTCAT	0.413000													9	21					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44815143	44815143	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:44815143A>T	ENST00000507110.1	+	5	1197	c.1159A>T	c.(1159-1161)Aac>Tac	p.N387Y		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	387					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGATCAAAATAACCCTCGTAA	0.363000													11	35					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226180669	226180669	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:226180669C>G	ENST00000272091.7	-	3	291	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCTTCTCAATCTGAGCACCAA	0.428000													13	36					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83359638	83359638	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:83359638G>A	ENST00000262752.2	-	17	1490	c.1483C>T	c.(1483-1485)Ctt>Ttt	p.L495F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L495F|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	495	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCCGTAACAAGGTAAACATAT	0.289000													6	3					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23906980	23906980	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:23906980G>C	ENST00000382298.3	-	10	11623	c.11035C>G	c.(11035-11037)Ctt>Gtt	p.L3679V	SACS_ENST00000402364.1_Missense_Mutation_p.L2929V|SACS_ENST00000382292.3_Missense_Mutation_p.L3679V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3679					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTTATAAGAGGAAGTGTT	0.408000													13	61					0	0	1	0	0
FOXP3	50943	broad.mit.edu	37	X	49113896	49113896	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chrX:49113896C>A	ENST00000376207.4	-	4	629	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C	FOXP3_ENST00000376197.1_Missense_Mutation_p.G98C|FOXP3_ENST00000376199.2_Missense_Mutation_p.G113C|FOXP3_ENST00000455775.2_Missense_Mutation_p.G148C|FOXP3_ENST00000518685.1_Missense_Mutation_p.G113C|FOXP3_ENST00000557224.1_Missense_Mutation_p.G113C	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	148					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GGTGGGAGGCCAGGCCGGGCC	0.627000													38	6					5.73435e-26	6.211e-26	1	1	0
AP1M2	10053	broad.mit.edu	37	19	10692456	10692456	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:10692456G>A	ENST00000590923.1	-	4	449	c.366C>T	c.(364-366)ttC>ttT	p.F122F	AP1M2_ENST00000250244.6_Silent_p.F122F			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	122					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGGTCTGCGGGAAGCCAAAGT	0.572000													13	31					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453330	195453330	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:195453330G>A	ENST00000320736.6	+	3	1469	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	MUC20_ENST00000447234.2_Missense_Mutation_p.R619Q|MUC20_ENST00000445522.2_Missense_Mutation_p.R584Q|MUC20_ENST00000436408.1_Missense_Mutation_p.R619Q			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	619					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AACAGCAGCCGAGGGACGAAC	0.617000													28	154					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701494	139701494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:139701494G>C	ENST00000338005.6	+	13	1497	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	488										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GATCAGCTTTGAGAACCGGGA	0.642000													17	57					0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205350864	205350864	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr1:205350864C>G	ENST00000391936.2	-	4	460	c.326G>C	c.(325-327)tGa>tCa	p.*109S	LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367149.3_Nonstop_Mutation_p.*68S|LEMD1_ENST00000367151.2_Missense_Mutation_p.L115F|LEMD1_ENST00000367154.1_Nonstop_Mutation_p.*109S|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367153.4_Missense_Mutation_p.L156F|LEMD1_ENST00000367152.1_Missense_Mutation_p.L115F	NM_001001552.4	NP_001001552.3	Q68G75	LEMD1_HUMAN	LEM domain containing 1	0						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CAGCAAGCTTCAAGCCCACTG	0.453000													64	177					0	0	1	0	0
NDUFA13	51079	broad.mit.edu	37	19	19638891	19638891	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:19638891G>A	ENST00000512771.3	+	5	401	c.391G>A	c.(391-393)Gag>Aag	p.E131K	CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.E214K|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.4_Missense_Mutation_p.E131K|YJEFN3_ENST00000608404.1_Intron|NDUFA13_ENST00000503283.1_Intron					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCGCACCACAGAGGAGGCTCT	0.647000													10	28					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936441	38936441	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr3:38936441G>A	ENST00000302328.3	-	15	2616	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	SCN11A_ENST00000456224.3_Silent_p.F806F|SCN11A_ENST00000444237.2_Silent_p.F806F|SCN11A_ENST00000450244.1_Silent_p.F806F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	806					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTAAGGCAATGAAGAGGTTGA	0.438000													7	30					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2728535	2728535	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr18:2728535G>C	ENST00000320876.6	+	23	3192	c.2854G>C	c.(2854-2856)Gaa>Caa	p.E952Q	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E952Q|SMCHD1_ENST00000609587.1_3'UTR	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	952					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATTTCAGGTGGAAGTTTTAGA	0.343000													8	24					0	0	1	0	0
CRCP	27297	broad.mit.edu	37	7	65617333	65617333	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:65617333G>T	ENST00000395326.3	+	6	794	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	CRCP_ENST00000338592.5_Missense_Mutation_p.D113Y|CRCP_ENST00000415001.2_Missense_Mutation_p.D113Y|CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000398684.2_Missense_Mutation_p.D69Y|CRCP_ENST00000431089.2_Missense_Mutation_p.D139Y|RP5-1132H15.1_ENST00000435524.2_RNA	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	146					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding			cervix(1)|kidney(1)|lung(4)	6						GGACGAAGAGGACCCAGCATA	0.502000													15	48					1.49906e-05	1.53389e-05	1	1	0
ZFP36L1	677	broad.mit.edu	37	14	69263046	69263046	+	Translation_Start_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr14:69263046G>C	ENST00000408913.2	-	0	144							Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTCAAGGCAGATGACAGTGT	0.597000													29	79					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43488984	43488984	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:43488984G>A	ENST00000372389.3	+	9	1075	c.987G>A	c.(985-987)ctG>ctA	p.L329L	POLR1C_ENST00000304004.3_Intron|POLR1C_ENST00000372344.2_Silent_p.L279L	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	329					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCAAAGTACTGATGGGGAAGT	0.532000													32	78					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51826064	51826064	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr13:51826064C>T	ENST00000322475.8	+	3	696	c.561C>T	c.(559-561)ctC>ctT	p.L187L	FAM124A_ENST00000280057.6_Silent_p.L223L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	187										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CTGACAGCCTCAGGTTCTACC	0.567000													12	24					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1036075	1036075	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:1036075C>A	ENST00000562958.2	+	5	433	c.400C>A	c.(400-402)Cta>Ata	p.L134I	CNN2_ENST00000565096.2_Intron|CNN2_ENST00000606983.1_Intron|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000263097.4_Intron			Q99439	CNN2_HUMAN	calponin 2	130					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTAGATCTAGGGTCCCT	0.672000													9	12					0.00448238	0.00452848	1	1	0
SRPK2	6733	broad.mit.edu	37	7	105029102	105029102	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr7:105029102G>A	ENST00000393651.3	-	2	151	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S		NM_182692.1	NP_872634.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	11					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACTTTTTCGGATGTTTCTCT	0.697000													21	40					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837484	82837484	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr5:82837484G>C	ENST00000265077.3	+	8	9227	c.8662G>C	c.(8662-8664)Gag>Cag	p.E2888Q	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1901Q|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2888	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCACATAACTGAGCCTCCCTC	0.388000													19	34					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913106	111913106	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:111913106G>C	ENST00000368761.5	-	2	662	c.184C>G	c.(184-186)Caa>Gaa	p.Q62E	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.Q71E|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Q62E	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	71					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAGTGAGCTTGAGAAAAGTCT	0.512000													18	75					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448750	89448750	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:89448750C>A	ENST00000399794.2	-	3	1475	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D254Y|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	254							nucleotide binding|RNA binding										GATGGATAGTCATCACGTGAA	0.433000													40	48					5.04308e-16	5.39774e-16	1	1	0
ACLY	47	broad.mit.edu	37	17	40027972	40027972	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40027972C>T	ENST00000352035.2	-	25	3037	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	ACLY_ENST00000590151.1_Silent_p.L969L|ACLY_ENST00000353196.1_Silent_p.L959L|ACLY_ENST00000393896.2_Silent_p.L959L|ACLY_ENST00000537919.1_Silent_p.L698L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	969					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGCCCATGATCAGCTTCCCTT	0.517000													22	49					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41514466	41514466	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:41514466G>C	ENST00000402904.2	-	11	1540	c.1172C>G	c.(1171-1173)tCt>tGt	p.S391C	SCMH1_ENST00000372597.1_Missense_Mutation_p.S344C|SCMH1_ENST00000397171.2_Missense_Mutation_p.S330C|SCMH1_ENST00000361191.5_Missense_Mutation_p.S330C|SCMH1_ENST00000337495.5_Missense_Mutation_p.S401C|SCMH1_ENST00000372595.1_Missense_Mutation_p.S330C|SCMH1_ENST00000361705.3_Missense_Mutation_p.S344C|SCMH1_ENST00000326197.7_Missense_Mutation_p.S391C|SCMH1_ENST00000372596.1_Missense_Mutation_p.S330C|SCMH1_ENST00000456518.2_Missense_Mutation_p.S233C|SCMH1_ENST00000397174.2_Missense_Mutation_p.S371C	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	391					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CAACACCACAGAGGCACGGGC	0.512000													46	107					0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78398199	78398199	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:78398199C>T	ENST00000258930.3	-	5	752	c.424G>A	c.(424-426)Gag>Aag	p.E142K	CIB2_ENST00000560618.1_Missense_Mutation_p.E99K|CIB2_ENST00000539011.1_Missense_Mutation_p.E99K|CIB2_ENST00000557846.1_Missense_Mutation_p.E93K	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	142							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						ACCTCCTCCTCATCCAGCTCT	0.562000													27	54					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77311209	77311209	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:77311209C>G	ENST00000393774.3	+	7	816	c.692C>G	c.(691-693)tCt>tGt	p.S231C	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	231										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AACCAATTCTCTGATGTAGGA	0.478000													8	14					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746482	746482	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:746482G>A	ENST00000264560.7	+	8	894	c.700G>A	c.(700-702)Gca>Aca	p.A234T	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.A278T	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	278					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CGGTGTGCAGGCACAGCCAGG	0.726000													13	26					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512804	101512804	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:101512804G>C	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA	NR_104192.1																						GGTACTTGGAGAGTGGTTATC	0.507000													17	58					0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247201107	247201107	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:247201107C>G	ENST00000366503.2	-	4	972	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	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;0.00427)			TGCGTTCTTTCATGTATTCCC	0.423000													26	47					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72425365	72425365	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:72425365G>A	ENST00000333850.3	+	11	1504	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	455					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACAGAGTATTGAAATTCTGAA	0.393000													26	51					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36053455	36053455	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:36053455A>T	ENST00000262623.3	-	4	330	c.302T>A	c.(301-303)gTc>gAc	p.V101D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	101					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCGAACTTGACGTACTCTGG	0.692000													7	21					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98649874	98649874	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:98649874C>T	ENST00000361125.1	-	7	994	c.675G>A	c.(673-675)caG>caA	p.Q225Q	SMURF1_ENST00000361368.2_Silent_p.Q225Q|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	225					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GTGGTCGGTTCTGGGGCGTCT	0.567000													47	127					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67938521	67938521	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:67938521C>T	ENST00000304363.4	-	9	1291	c.938G>A	c.(937-939)gGa>gAa	p.G313E	SUV420H1_ENST00000402789.1_Missense_Mutation_p.G313E|SUV420H1_ENST00000405515.1_Missense_Mutation_p.G313E|SUV420H1_ENST00000402185.2_Missense_Mutation_p.G290E|SUV420H1_ENST00000401547.2_Missense_Mutation_p.G313E	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			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						ATTATTTTCTCCAAAGAACCC	0.373000													14	19					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87599398	87599398	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:87599398C>T	ENST00000356813.4	+	7	868	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	RP5-1052I5.1_ENST00000484933.2_lincRNA|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.H290Y			Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	0						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TAAAGATTCTCATTGTGAGTA	0.428000													4	2					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420445	23420445	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:23420445G>A	ENST00000302291.4	-	4	1111	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R104W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R104W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R104W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	104						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCAGCTCCCGGGTGAGGTTT	0.478000													41	72					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38522380	38522380	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:38522380C>T	ENST00000332509.3	-	10	1608	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	PLA2G6_ENST00000490473.1_5'UTR|PLA2G6_ENST00000335539.3_Silent_p.R421R|PLA2G6_ENST00000402064.1_Silent_p.R421R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	475					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCACTTACGTCCGCTTCTCGT	0.617000													18	64					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88232508	88232508	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:88232508G>C	ENST00000298767.5	-	6	2226	c.1754C>G	c.(1753-1755)tCa>tGa	p.S585*		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	585	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGGTTCCTTTGAAGACAGCCT	0.343000													6	11					0	0	1	0	0
SMCO3	440087	broad.mit.edu	37	12	14959138	14959138	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:14959138G>A	ENST00000316048.2	-	2	549	c.477C>T	c.(475-477)ctC>ctT	p.L159L	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		TACTACCAAGGAGAGAAGCAC	0.468000													28	60					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19492958	19492958	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:19492958G>A	ENST00000407835.1	+	11	1034	c.778G>A	c.(778-780)Gag>Aag	p.E260K	CDC45_ENST00000263201.1_Missense_Mutation_p.E260K|CDC45_ENST00000404724.3_Missense_Mutation_p.E214K|CDC45_ENST00000437685.2_Missense_Mutation_p.E292K			O75419	CDC45_HUMAN	cell division cycle 45	260					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CGAGGATGAGGAGAACACACT	0.562000													6	41					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62162156	62162156	+	Silent	SNP	G	G	A	rs140522443		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:62162156G>A	ENST00000217185.2	-	6	984	c.957C>T	c.(955-957)ctC>ctT	p.L319L	PTK6_ENST00000542869.1_Silent_p.L218L	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	319	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TTTCCCCGACGAGGATGTTCC	0.622000													23	53					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62517383	62517383	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:62517383C>T	ENST00000217121.5	+	6	563	c.491C>T	c.(490-492)tCa>tTa	p.S164L	TPD52L2_ENST00000358548.4_Intron|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000346249.4_Intron|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S144L|TPD52L2_ENST00000352482.4_Intron	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	157					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CATCCATTTTCACACTCCTTT	0.597000													26	57					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47776178	47776178	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:47776178C>T	ENST00000263773.5	-	3	364	c.352G>A	c.(352-354)Gac>Aac	p.D118N	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	118										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTGTCATCGTCATCACTGTCA	0.393000													19	43					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1806263	1806263	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:1806263G>A	ENST00000518288.1	+	4	410	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E83K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E59K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E83K|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E59K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E83K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	83					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGAGCCAGTGAAGCCCCTGC	0.617000													12	19					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22206972	22206972	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:22206972G>T	ENST00000374695.3	-	16	2158	c.2079C>A	c.(2077-2079)ctC>ctA	p.L693L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	693	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGTCTGGATGAGCACGGCCT	0.647000													8	37					7.48243e-07	7.71104e-07	1	1	0
SYN2	6854	broad.mit.edu	37	3	12208804	12208804	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:12208804G>A	ENST00000432424.2	+	0	1223							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCCATGTCAGACAGGTGAGT	0.512000													6	12					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721847	56721847	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:56721847C>G	ENST00000425394.2	-	5	959	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	PAN2_ENST00000257931.5_Missense_Mutation_p.E195Q|PAN2_ENST00000440411.3_Missense_Mutation_p.E195Q|PAN2_ENST00000548043.1_Missense_Mutation_p.E195Q	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	195					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCAGGCGTCTCTACTGCATAC	0.512000													12	33					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137562	63137562	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:63137562G>A	ENST00000279178.3	+	1	283	c.34G>A	c.(34-36)Gac>Aac	p.D12N	SLC22A9_ENST00000310969.4_Missense_Mutation_p.D12N	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	12					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TCACGCTGGTGACCTGTGGAG	0.453000													29	57					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32726904	32726904	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:32726904G>C	ENST00000421745.2	+	47	9290	c.9156G>C	c.(9154-9156)atG>atC	p.M3052I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3052					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGTCCACATGATGCTGCAGC	0.393000													26	51					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462210	224462210	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:224462210G>A	ENST00000305409.2	-	2	2023	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	597					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTTGGTTGAGGTATTCCA	0.443000													26	35					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25617444	25617444	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:25617444C>T	ENST00000398215.2	+	2	219	c.48C>T	c.(46-48)aaC>aaT	p.N16N		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	16	N-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AGTCCCTCAACCCCAAGGTGG	0.567000													19	51					0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315375	120315375	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:120315375C>G	ENST00000485064.1	+	1	201	c.169C>G	c.(169-171)Cga>Gga	p.R57G	NDUFB4_ENST00000492739.1_Missense_Mutation_p.R57G|NDUFB4_ENST00000184266.2_Missense_Mutation_p.R57G	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	57					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TCCCAACCGCCGAGGGCTCAT	0.637000													8	15					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534409	20534409	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:20534409C>G	ENST00000377252.4	+	13	2289	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.S434*|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CACCCAACATCAGCAGCCAGC	0.463000													46	184					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47984069	47984069	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:47984069C>G	ENST00000338134.3	-	6	654	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	183					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGCTGTTCCTCAAACTGATGC	0.607000													52	142					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	564905	564905	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:564905C>T	ENST00000230449.4	-	14	1603	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	EXOC2_ENST00000448181.3_Missense_Mutation_p.E85K	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	490					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTGATCTTTCAATCTGGCCT	0.308000													27	30					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65443231	65443231	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:65443231G>A	ENST00000300107.3	-	14	2020	c.1832C>T	c.(1831-1833)tCt>tTt	p.S611F		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	611					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CTCCTCTTCAGAGGATTCTTT	0.378000													42	65					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128700017	128700017	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:128700017C>T	ENST00000357702.5	-	20	3205	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	SAP130_ENST00000259234.6_Missense_Mutation_p.R998Q|SAP130_ENST00000259235.3_Missense_Mutation_p.R990Q	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	990	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTCGTTTATTCGGTGGAGATC	0.438000													16	38					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957045	33957045	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:33957045C>A	ENST00000361328.3	+	6	1340	c.1187C>A	c.(1186-1188)cCa>cAa	p.P396Q	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.P342Q	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	396					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCCACCCACCAGGTACCTGC	0.607000													33	100					2.68265e-12	2.83244e-12	1	1	0
CCDC102A	92922	broad.mit.edu	37	16	57550240	57550240	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:57550240C>T	ENST00000258214.2	-	7	1630	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	462										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTCTTGAGCTCCTCCACCCGC	0.662000													15	52					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99517059	99517059	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:99517059G>A	ENST00000393677.4	+	11	1284	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L	ZFYVE27_ENST00000370613.3_Silent_p.L235L|ZFYVE27_ENST00000370610.3_Silent_p.L260L|ZFYVE27_ENST00000359980.3_Silent_p.L353L|ZFYVE27_ENST00000356257.4_Silent_p.L365L|ZFYVE27_ENST00000337540.7_Silent_p.L321L|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000357540.4_Silent_p.L267L|ZFYVE27_ENST00000453958.2_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	360					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TCTCAGTGCTGAAGAAGAGGG	0.597000													34	32					0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62496386	62496386	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62496386G>A	ENST00000513247.2	+	2	717	c.465G>A	c.(463-465)ggG>ggA	p.G155G	TTC9C_ENST00000316461.4_Silent_p.G22G|TTC9C_ENST00000532583.1_Silent_p.G22G			Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	22							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ACCGGGAAGGGAAGTACCGAG	0.582000													18	51					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013835	156013835	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156013835C>T	ENST00000368309.3	-	6	1172	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	360						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TCGAGACTGTCGGGTGCACCT	0.682000													17	31					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575935	49575935	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:49575935C>T	ENST00000244051.1	+	1	573	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	186					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGTGCCCACTCGCTACCTGGT	0.607000													35	82					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895440	42895440	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:42895440G>C	ENST00000399770.2	+	1	157	c.157G>C	c.(157-159)Gat>Cat	p.D53H		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	53					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTGTGGGATAGATGGACTAGG	0.507000													43	68					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45888872	45888872	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:45888872C>T	ENST00000418234.2	-	11	2274	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	PPP1R13L_ENST00000360957.5_Silent_p.E732E	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	732					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTCGCACTTCTCGAAGGCGG	0.682000													12	38					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8013370	8013370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:8013370C>A	ENST00000533626.1	+	4	1033	c.407C>A	c.(406-408)tCa>tAa	p.S136*	EIF3F_ENST00000309828.4_Nonsense_Mutation_p.S136*|EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000537635.1_Nonsense_Mutation_p.S151*			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	136	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATTGCTTTTCAGTGCCGCAC	0.493000													45	123					8.04919e-23	8.68227e-23	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27101254	27101254	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:27101254G>C	ENST00000324856.7	+	18	4907	c.4536G>C	c.(4534-4536)caG>caC	p.Q1512H	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1129H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1512					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAACAGGCAGAGCACGGGCT	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								51	106					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2847550	2847550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrY:2847550C>G	ENST00000155093.3	+	8	2243	c.1922C>G	c.(1921-1923)tCa>tGa	p.S641*	ZFY_ENST00000431102.1_Nonsense_Mutation_p.S450*|ZFY_ENST00000383052.1_Nonsense_Mutation_p.S641*|ZFY_ENST00000449237.1_Nonsense_Mutation_p.S564*|ZFY-AS1_ENST00000417305.1_RNA	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						AGTTCAAACTCAAGTGATTTG	0.408000													24	8					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	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)			11	31					0	0	1	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486676	11486676	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:11486676C>G	ENST00000312423.2	+	2	733	c.674C>G	c.(673-675)tCt>tGt	p.S225C		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	225																	GGTTCAAGCTCTGGAGGCCAG	0.552000													9	8					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799265	47799265	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47799265C>G	ENST00000591416.1	-	14	2076	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	MBD1_ENST00000398493.1_Missense_Mutation_p.E493Q|MBD1_ENST00000269471.5_Missense_Mutation_p.E480Q|MBD1_ENST00000585595.1_Missense_Mutation_p.E574Q|MBD1_ENST00000590208.1_Missense_Mutation_p.E549Q|MBD1_ENST00000347968.3_Missense_Mutation_p.E493Q|MBD1_ENST00000585672.1_Missense_Mutation_p.E499Q|MBD1_ENST00000591535.1_Missense_Mutation_p.E480Q|MBD1_ENST00000398488.1_Missense_Mutation_p.E447Q|MBD1_ENST00000398495.2_Missense_Mutation_p.E518Q|MBD1_ENST00000424334.2_Missense_Mutation_p.E600Q|MBD1_ENST00000436910.1_Missense_Mutation_p.E480Q|MBD1_ENST00000353909.3_Missense_Mutation_p.E500Q|MBD1_ENST00000457839.2_Missense_Mutation_p.E574Q|MBD1_ENST00000339998.6_Missense_Mutation_p.E503Q|MBD1_ENST00000269468.5_Missense_Mutation_p.E549Q|MBD1_ENST00000587605.1_Missense_Mutation_p.E447Q|MBD1_ENST00000382948.5_Missense_Mutation_p.E549Q|MBD1_ENST00000588937.1_Missense_Mutation_p.E480Q|MBD1_ENST00000349085.2_Missense_Mutation_p.E447Q			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	549	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTGTTCTCCTCCTTGTCCTCC	0.597000													38	82					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121330348	121330348	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:121330348G>A	ENST00000339397.4	+	4	325	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TATCAACTTTGAAAAAATCTT	0.264000													4	8					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734121	58734121	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:58734121G>A	ENST00000305921.3	+	5	1411	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	393					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGTTATACCTGAACCTGACTG	0.433000													15	51					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69349124	69349124	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:69349124C>G	ENST00000370598.1	+	3	1378	c.557C>G	c.(556-558)aCa>aGa	p.T186R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	186					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)				AATGGGAGAACAGAATCATGT	0.438000													20	44					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269256	123269256	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:123269256G>C	ENST00000451558.1	+	12	1729	c.1208G>C	c.(1207-1209)gGa>gCa	p.G403A	ASB15_ENST00000451215.1_Missense_Mutation_p.G403A|ASB15_ENST00000275699.3_Missense_Mutation_p.G403A|ASB15_ENST00000540573.1_Missense_Mutation_p.G403A|ASB15_ENST00000434204.1_Missense_Mutation_p.G403A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	403					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTCTCCCATGGAGCTAATGTC	0.448000													18	48					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172661934	172661934	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:172661934G>C	ENST00000329198.4	-	1	426	c.153C>G	c.(151-153)ttC>ttG	p.F51L	NKX2-5_ENST00000424406.2_Missense_Mutation_p.F51L|NKX2-5_ENST00000521848.1_Missense_Mutation_p.F51L	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	51	Ala/Pro-rich.		F -> L (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTCTGGCTTGAAGGCGGCCA	0.726000													3	8					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933894	10933894	+	Missense_Mutation	SNP	C	C	G	rs148357558		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:10933894C>G	ENST00000298232.7	-	16	1298	c.931G>C	c.(931-933)Gat>Cat	p.D311H	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D329H|TPTE_ENST00000342420.5_Missense_Mutation_p.D291H	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	329	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D311N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTTTCAAGATCTTGAGCCATC	0.318000													27	185					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452517	58452517	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:58452517C>G	ENST00000282308.3	-	3	1855	c.1659G>C	c.(1657-1659)tgG>tgC	p.W553C	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	553					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAAGGATTTCCAACACTCAC	0.448000													12	38					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791252	237791252	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:237791252G>C	ENST00000366574.2	+	41	6629	c.6312G>C	c.(6310-6312)aaG>aaC	p.K2104N	RYR2_ENST00000360064.6_Missense_Mutation_p.K2102N|RYR2_ENST00000542537.1_Missense_Mutation_p.K2088N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2104	4 X approximate repeats.				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			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)			CCCTGCCAAAGACCTACACGA	0.552000													15	28					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799144	16799144	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:16799144G>A	ENST00000187762.2	+	6	953	c.862G>A	c.(862-864)Gag>Aag	p.E288K		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	288						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GGAGTTGAGCGAGGGCTCCAG	0.657000													23	46					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152195631	152195631	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:152195631C>T	ENST00000368801.2	-	2	174	c.99G>A	c.(97-99)ctG>ctA	p.L33L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	33	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			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)			GAAGTTCTTTCAGCTCTGCCT	0.428000													29	65					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75201397	75201397	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:75201397G>C	ENST00000413679.2	+	11	1441	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	SEC14L1_ENST00000430767.4_Missense_Mutation_p.E380Q|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E380Q|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E346Q|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E380Q|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E380Q|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E346Q|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E380Q	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	380	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCGATGCGAAGAGAATACAAA	0.368000													11	31					0	0	1	0	0
LSMEM2	132228	broad.mit.edu	37	3	50316587	50316587	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:50316587G>C	ENST00000316436.3	+	1	130	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_153215.1	NP_694947.1			leucine-rich single-pass membrane protein 2																		TGCCATGCCTGAGGAGACCCA	0.602000													18	45					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95679735	95679735	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:95679735G>C	ENST00000298912.4	-	6	542	c.429C>G	c.(427-429)ctC>ctG	p.L143L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	143	Actin-binding.					integral to membrane	actin binding			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)		GGTTGCCTGTGAGCTCCTTAA	0.572000													13	46					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409484	47409484	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:47409484C>T	ENST00000378688.4	-	3	1035	c.904G>A	c.(904-906)Gag>Aag	p.E302K	HTR2A_ENST00000542664.1_Missense_Mutation_p.E302K|HTR2A_ENST00000543956.1_Missense_Mutation_p.E218K			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	302					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GACCCTGGCTCCCTATGGATC	0.507000													17	28					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52789519	52789519	+	Silent	SNP	C	C	T	rs116104487	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:52789519C>T	ENST00000216862.3	-	2	771	c.378G>A	c.(376-378)ccG>ccA	p.P126P	CYP24A1_ENST00000395955.3_Silent_p.P126P	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	126					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCAGCCGCTGCGGGTACGCGC	0.602000													31	79					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	425418	425418	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:425418C>T	ENST00000431232.2	-	7	1402	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	TMEM8A_ENST00000250930.3_Silent_p.E221E	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	414					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTACGACGGTCTCGTTCCGCA	0.637000													30	46					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73785502	73785502	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:73785502C>G	ENST00000334126.7	-	24	4973	c.4747G>C	c.(4747-4749)Gag>Cag	p.E1583Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1583Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1583						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGCTGCTCAGACTCACTG	0.572000													9	33					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111346769	111346769	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:111346769G>C	ENST00000441448.2	+	10	997	c.905G>C	c.(904-906)aGa>aCa	p.R302T		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	302						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAGTCAAAAAGAATTAAAAAA	0.373000													10	21					0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72640017	72640017	+	RNA	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:72640017C>G	ENST00000423083.1	+	0	158					NR_003186.1																						ACCAAGATCTCCCGCTGTCCC	0.617000													10	31					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24518535	24518535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:24518535G>A	ENST00000355123.4	-	14	2076	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q545*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q545*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	545					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTTACCTGAAGTTCCTGT	0.428000													16	36					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68856094	68856094	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:68856094G>A	ENST00000261769.5	+	12	2093	c.1902G>A	c.(1900-1902)gcG>gcA	p.A634A	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.A573A	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	634	Cadherin 5.		A -> V (found in a gastric cancer sample; cells exhibited decreased aggregation increased invasiveness and non-uniform migration in vitro compared to cells transfected with wild-type sequence).	ASA -> RVP (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACACGGGGCGAGTGCCAACT	0.498000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				19	50					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92126043	92126043	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:92126043G>A	ENST00000248633.4	-	17	2862	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	PEX1_ENST00000428214.1_Missense_Mutation_p.R866W|PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R601W	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	923					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAATATCCCGAACAGCTTGT	0.303000													38	78					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116227977	116227977	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:116227977G>A	ENST00000355485.2	+	7	1414	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	VANGL1_ENST00000369509.1_Silent_p.Q381Q|VANGL1_ENST00000310260.3_Silent_p.Q381Q|VANGL1_ENST00000369510.4_Silent_p.Q379Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	381					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGAGCAGCAGAAAGCCCCAG	0.597000													19	36					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45771742	45771742	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:45771742G>C	ENST00000327619.5	+	10	1307	c.933G>C	c.(931-933)atG>atC	p.M311I	EYA2_ENST00000357410.3_Missense_Mutation_p.M311I|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	311					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGGAAGAGATGATCTTCAACC	0.468000													17	48					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155569163	155569163	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:155569163C>T	ENST00000461783.3	+	22	4955	c.3682C>T	c.(3682-3684)Ctg>Ttg	p.L1228L	TIAM2_ENST00000456144.1_Silent_p.L1228L|TIAM2_ENST00000367174.2_Silent_p.L604L|TIAM2_ENST00000529824.2_Silent_p.L1228L|TIAM2_ENST00000456877.2_Silent_p.L540L|TIAM2_ENST00000275246.7_Silent_p.L153L|TIAM2_ENST00000528391.2_Silent_p.L564L|TIAM2_ENST00000318981.5_Silent_p.L1228L|TIAM2_ENST00000360366.4_Silent_p.L1252L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1228	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAAGGCTTTTCTGGACGCCCG	0.488000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	37					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42749000	42749000	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:42749000C>G	ENST00000432191.2	+	3	182	c.110C>G	c.(109-111)tCt>tGt	p.S37C	PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S92C|PPHLN1_ENST00000317560.9_Missense_Mutation_p.S44C|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S92C|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S99C|PPHLN1_ENST00000395568.2_Missense_Mutation_p.S92C|PPHLN1_ENST00000337898.6_Missense_Mutation_p.S37C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S110C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.S44C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	92					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GACGATCATTCTGCAAGCAGG	0.348000													14	31					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315698	30315698	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:30315698C>G	ENST00000375377.1	-	3	3480	c.3379G>C	c.(3379-3381)Gag>Cag	p.E1127Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1127										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GATAGCAACTCTTCCTGGGGG	0.637000													34	98					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402011	197402011	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:197402011C>T	ENST00000273582.5	-	21	3207	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	KIAA0226_ENST00000296343.5_Missense_Mutation_p.E933K	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	933	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCAGCCGCTCGCAGCGCGGA	0.597000													36	93					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67410275	67410275	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:67410275C>T	ENST00000255082.3	-	8	1050	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	ACY3_ENST00000529256.1_Missense_Mutation_p.A173T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	294					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGGACAAAGGCAACGCCCTTC	0.577000													36	101					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42148790	42148790	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:42148790C>G	ENST00000320955.6	-	53	9042	c.8815G>C	c.(8815-8817)Gag>Cag	p.E2939Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2939					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATCTCACTCTCCAGGTTCTGC	0.632000													4	13					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799761	47799761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47799761C>T	ENST00000591416.1	-	13	1958	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	MBD1_ENST00000398493.1_Nonsense_Mutation_p.W453*|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Nonsense_Mutation_p.W534*|MBD1_ENST00000590208.1_Nonsense_Mutation_p.W509*|MBD1_ENST00000347968.3_Nonsense_Mutation_p.W453*|MBD1_ENST00000585672.1_Nonsense_Mutation_p.W459*|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Nonsense_Mutation_p.W478*|MBD1_ENST00000424334.2_Nonsense_Mutation_p.W560*|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Nonsense_Mutation_p.W460*|MBD1_ENST00000457839.2_Nonsense_Mutation_p.W534*|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Nonsense_Mutation_p.W509*|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Nonsense_Mutation_p.W509*|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000349085.2_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	509					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGCCTGGTGTCCACTCGTCCT	0.607000													28	55					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157435459	157435459	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:157435459C>G	ENST00000310454.6	+	14	2198	c.1826C>G	c.(1825-1827)tCa>tGa	p.S609*	GPD2_ENST00000409125.4_Nonsense_Mutation_p.S382*|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Nonsense_Mutation_p.S609*|GPD2_ENST00000409674.1_Nonsense_Mutation_p.S609*	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	609					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AAATCTCGATCAGAACAGTTA	0.353000													22	47					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15535971	15535971	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:15535971C>G	ENST00000455584.2	-	4	910	c.867G>C	c.(865-867)aaG>aaC	p.K289N	TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.K289N|TRIM16_ENST00000416464.2_Missense_Mutation_p.K159N|TRIM16_ENST00000577886.1_Missense_Mutation_p.K73N|TRIM16_ENST00000336708.7_Missense_Mutation_p.K289N																							CTTCAGTGTTCTTAAACTTGC	0.438000													16	39					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620436	70620436	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:70620436C>T	ENST00000310613.3	-	3	526	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GGAACTTTTTCAGTAATAAAA	0.313000													17	30					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235318295	235318295	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:235318295G>A	ENST00000408888.3	-	4	728	c.498C>T	c.(496-498)gtC>gtT	p.V166V	RBM34_ENST00000366606.3_Silent_p.V161V			P42696	RBM34_HUMAN	RNA binding motif protein 34	166						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTTTGACTGACAACTGTGT	0.348000													18	30					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12934065	12934065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:12934065C>T	ENST00000379348.2	+	4	628	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGCCCTGTTCAAGGAGCTAA	0.522000													16	43					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375963	113375963	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:113375963C>T	ENST00000316407.4	-	7	4976	c.4566G>A	c.(4564-4566)caG>caA	p.Q1522Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.Q1522Q	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1522	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTCTTTTTCTGCATCTGAA	0.502000													16	41					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123887998	123887998	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:123887998G>C	ENST00000373855.1	+	14	2069	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H	CNTRL_ENST00000373847.1_Missense_Mutation_p.Q51H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q51H|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q603H			Q7Z7A1	CNTRL_HUMAN	centriolin	603					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCTTAGGCCAGATAGCAGCAA	0.413000													47	64					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63533173	63533173	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:63533173C>T	ENST00000307078.5	-	7	2034	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	574				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGTACTGCCTCTGCTGCCGCT	0.657000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				13	16					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375740	46375740	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:46375740G>A	ENST00000302177.2	+	2	674	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	159					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AGAATCAGCAGCGCTGGCAGA	0.587000													52	123					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77253645	77253645	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:77253645C>G	ENST00000388914.3	-	19	2963		c.e19-1			NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158											breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCTATCCTCTCTGTATAGAAA	0.313000													10	24					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134034796	134034796	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:134034796G>A	ENST00000359428.5	+	18	2607	c.2463G>A	c.(2461-2463)gtG>gtA	p.V821V	RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Silent_p.V822V|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000411637.2_Silent_p.V811V|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	821	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATCAGTATGTGAAATTTGCTG	0.363000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								9	23					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113181345	113181345	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:113181345G>A	ENST00000261965.3	-	13	1652	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S489L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	489					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAAATTTATTGATTTTCCTAT	0.358000													7	42					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292581	62292581	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62292581G>T	ENST00000378024.4	-	5	9582	c.9308C>A	c.(9307-9309)cCc>cAc	p.P3103H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3103					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCACTTTGGGACCTTTCAG	0.453000													95	230					6.09681e-45	6.64525e-45	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77611801	77611801	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:77611801G>A	ENST00000461745.1	+	10	2337		c.e10-1		ROBO2_ENST00000332191.8_Splice_Site|ROBO2_ENST00000487694.3_Splice_Site	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCACACTAGATTTCTGATA	0.383000													8	18					0	0	1	0	0
ZNF69	7620	broad.mit.edu	37	19	12014495	12014495	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:12014495C>T	ENST00000429654.2	+	2	311	c.171C>T	c.(169-171)ttC>ttT	p.F57F	ZNF69_ENST00000340180.5_Silent_p.F43F			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	57	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		TGGAAACTTTCAGGAACCTGA	0.453000													31	66					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	837264	837264	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:837264C>T	ENST00000397420.3	+	6	615	c.366C>T	c.(364-366)ctC>ctT	p.L122L	CD151_ENST00000397421.1_Silent_p.L122L|CD151_ENST00000528011.1_Silent_p.L122L|CD151_ENST00000322008.4_Silent_p.L122L			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	122					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACACGGAGCTCAAGGAGAACC	0.632000													22	78					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101103593	101103593	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:101103593G>A	ENST00000369162.2	-	17	3149	c.2805C>T	c.(2803-2805)atC>atT	p.I935I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTTGTGACTGATGCCATATG	0.348000													17	35					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41303893	41303893	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:41303893G>C	ENST00000551295.2	+	3	197	c.80G>C	c.(79-81)aGa>aCa	p.R27T	CNTN1_ENST00000347616.1_Missense_Mutation_p.R27T|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Missense_Mutation_p.R27T|CNTN1_ENST00000547849.1_Missense_Mutation_p.R27T|CNTN1_ENST00000547702.1_Missense_Mutation_p.R27T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	27					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGTATAGAAGATATGGTCAT	0.289000													9	28					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417242	54417242	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:54417242C>T	ENST00000245451.4	-	4	1128	c.735G>A	c.(733-735)cgG>cgA	p.R245R	BMP4_ENST00000559087.1_Silent_p.R245R|BMP4_ENST00000558984.1_Silent_p.R245R|BMP4_ENST00000417573.1_Silent_p.R245R	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	245					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCTGGTGGGTCCGAGTCTGAT	0.592000													42	88					0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100174713	100174713	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:100174713G>A	ENST00000383693.3	+	4	1760	c.480G>A	c.(478-480)agG>agA	p.R160R	LNP1_ENST00000489752.1_Silent_p.R173R	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	160										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCTCTAGGAAAGAAGAGC	0.448000													20	53					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29024922	29024922	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:29024922C>G	ENST00000524189.1	-	11	1164	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.E376Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	376					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CGGAGTTTCTCAACTTCTTCC	0.542000													8	10					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889341	23889341	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:23889341G>A	ENST00000532292.1	-	1	1834	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGGGCCCCAGAGGAACTCAT	0.498000													16	28					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23869524	23869524	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:23869524C>G	ENST00000405093.3	-	14	1592	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	MYH6_ENST00000356287.3_Missense_Mutation_p.E508Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	508	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			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)		AATGTCCACTCAATGCCCTCC	0.547000													38	90					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937975	67937975	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:67937975C>T	ENST00000252336.6	+	5	1351	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	STARD8_ENST00000374597.3_Missense_Mutation_p.R327W|STARD8_ENST00000374599.3_Missense_Mutation_p.R407W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	327			R -> Q (in dbSNP:rs55962426).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCTGTGGTCTCGGGCCATGTA	0.557000													22	11					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702860	46702860	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:46702860G>A	ENST00000311956.4	-	6	616	c.519C>T	c.(517-519)ctC>ctT	p.L173L		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	173	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGGGCTTGAAGAGGATGAGCA	0.562000													48	118					0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48256253	48256253	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:48256253G>A	ENST00000371711.4	-	7	1066	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	293					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CCCAACCCCAGAAAGCATTAG	0.478000													35	115					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152346132	152346132	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:152346132C>G	ENST00000359321.1	-	3	523	c.438G>C	c.(436-438)ttG>ttC	p.L146F	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	146					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TATCCAAAATCAAAAGGCAGA	0.413000								Homologous recombination					16	48					0	0	1	0	0
AGRP	181	broad.mit.edu	37	16	67516590	67516590	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:67516590G>C	ENST00000290953.2	-	4	647	c.348C>G	c.(346-348)ttC>ttG	p.F116L	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	116	Agouti.				hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		GGCAGTAGCAGAAGGCATTGA	0.607000													32	104					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5923453	5923453	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:5923453C>T	ENST00000378156.4	-	30	4418	c.4153G>A	c.(4153-4155)Gag>Aag	p.E1385K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1385					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTAGGTCTCTCCACCCCCG	0.542000													51	143					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10694334	10694334	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:10694334G>A	ENST00000590923.1	-	3	298	c.215C>T	c.(214-216)tCg>tTg	p.S72L	AP1M2_ENST00000250244.6_Missense_Mutation_p.S72L			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	72					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGCATTCTTCGATGTGGTGGC	0.512000													44	74					0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20721872	20721872	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:20721872C>T	ENST00000454608.2	-	9	688	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	USP41_ENST00000486536.2_5'UTR					ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						ACAGTTCTCACAGAAGCATTT	0.532000													5	13					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719798	57719798	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:57719798C>G	ENST00000333493.4	+	11	1661	c.1500C>G	c.(1498-1500)ctC>ctG	p.L500L	GPR97_ENST00000450388.3_Silent_p.L380L|GPR97_ENST00000327655.6_Silent_p.L290L|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	500					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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						CGTTGGGCCTCTCCACCGTCT	0.602000													31	105					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131271331	131271331	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:131271331G>A	ENST00000512055.1	-	17	3247	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	CPNE4_ENST00000511604.1_Missense_Mutation_p.S374F|CPNE4_ENST00000502818.1_Missense_Mutation_p.S392F|CPNE4_ENST00000429747.1_Missense_Mutation_p.S374F|CPNE4_ENST00000512332.1_Missense_Mutation_p.S392F			Q96A23	CPNE4_HUMAN	copine IV	374	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AAAGTCATGAGAGACCTAGAC	0.388000													18	44					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857934	111857934	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:111857934C>A	ENST00000369740.1	+	6	460	c.357C>A	c.(355-357)ttC>ttA	p.F119L	CHIA_ENST00000343320.6_Missense_Mutation_p.F119L|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.F11L|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	119					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCCAGACTTTCATCACCTCAG	0.547000													49	166					2.82306e-37	3.07433e-37	1	1	0
GMIP	51291	broad.mit.edu	37	19	19741323	19741323	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:19741323C>A	ENST00000203556.4	-	20	2633	c.2496G>T	c.(2494-2496)caG>caT	p.Q832H	GMIP_ENST00000445806.2_Missense_Mutation_p.Q803H|GMIP_ENST00000587238.1_Missense_Mutation_p.Q806H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	832					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGTCCTCTCTCTGGTCACTCT	0.552000													28	74					3.73148e-12	3.9365e-12	1	1	0
SMC5	23137	broad.mit.edu	37	9	72930480	72930480	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:72930480G>C	ENST00000361138.5	+	13	1850	c.1792G>C	c.(1792-1794)Gaa>Caa	p.E598Q		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	598	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAGACCAGAGAAAGAATTGA	0.353000													11	29					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128001231	128001231	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:128001231C>G	ENST00000324460.6	-	5	1188	c.985G>C	c.(985-987)Gag>Cag	p.E329Q		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	329					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ATGTTGAGCTCTTCAAATTTG	0.418000										Prostate(1;0.17)			14	41					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40525085	40525085	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:40525085C>T	ENST00000372797.3	+	2	628	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	CAP1_ENST00000372792.2_Missense_Mutation_p.H23Y|CAP1_ENST00000372802.1_Missense_Mutation_p.H23Y|CAP1_ENST00000372805.3_Missense_Mutation_p.H23Y|CAP1_ENST00000340450.3_Missense_Mutation_p.H23Y|CAP1_ENST00000372798.1_Missense_Mutation_p.H23Y	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	23					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCAGTATCTCATACCTCTGA	0.493000													13	49					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37324849	37324849	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:37324849C>T	ENST00000373091.3	-	7	980	c.964G>A	c.(964-966)Gat>Aat	p.D322N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D322N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	322					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGGCTGCATCAGTCTGCAGG	0.632000													31	128					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81411163	81411163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:81411163C>T	ENST00000568107.2	+	11	1918	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTGCAGCTTCAGCAAGGCTT	0.527000													52	155					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156556371	156556371	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:156556371G>C	ENST00000353442.5	-	6	778	c.542C>G	c.(541-543)tCt>tGt	p.S181C	LMBR1_ENST00000354505.4_Missense_Mutation_p.S181C|LMBR1_ENST00000540390.1_Missense_Mutation_p.S160C|LMBR1_ENST00000359422.4_Missense_Mutation_p.S29C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ACCATATAAAGATTCCATGCT	0.363000													17	38					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18066584	18066584	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:18066584C>G	ENST00000205890.5	+	59	9977	c.9639C>G	c.(9637-9639)ctC>ctG	p.L3213L	MYO15A_ENST00000418233.3_Silent_p.L477L|MYO15A_ENST00000451725.2_Silent_p.L105L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3213	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAGGCAACTCTTTCTTCTTC	0.552000													57	123					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029388	17029388	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:17029388C>T	ENST00000492551.1	-	0	977					NR_026567.1																						gCTTCCCAATCGTGCCCCAAG	0.657000													5	19					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56757113	56757113	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:56757113C>A	ENST00000267460.4	+	5	921	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	212					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CGCGAGATCTCTGTCTGTGGA	0.582000													47	136					1.89013e-27	2.0512e-27	1	1	0
ANKRD42	338699	broad.mit.edu	37	11	82924037	82924037	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:82924037C>G	ENST00000526731.1	+	6	1025	c.603C>G	c.(601-603)ctC>ctG	p.L201L	ANKRD42_ENST00000533342.1_Intron|ANKRD42_ENST00000393389.3_3'UTR|ANKRD42_ENST00000260047.6_Intron|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000531895.1_Intron			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCCATCTCCTCCTCAGCATCA	0.433000													12	21					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000436	41000436	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:41000436C>G	ENST00000399564.4	-	39	4818	c.4368G>C	c.(4366-4368)ttG>ttC	p.L1456F	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1011F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCAGACCATCAAGACATCAC	0.483000													14	27					0	0	1	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200015	26200015	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:26200015G>A	ENST00000359985.1	+	1	268	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77K(3)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CATCGCTGGCGAGGCTTCCCG	0.612000													68	174					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903269	76903269	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:76903269C>T	ENST00000409709.3	+	31	4370	c.4098C>T	c.(4096-4098)ctC>ctT	p.L1366L	MYO7A_ENST00000409619.2_Silent_p.L1355L|MYO7A_ENST00000458637.2_Silent_p.L1366L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1366	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACCAACCTCATCTACCAGC	0.627000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	99					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96829297	96829297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:96829297G>T	ENST00000359933.4	-	1	910	c.17C>A	c.(16-18)tCg>tAg	p.S6*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	6										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATGGACTCCGAAAACGGCCA	0.662000													33	113					2.09667e-21	2.25962e-21	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63092028	63092028	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:63092028G>A	ENST00000263991.5	+	10	1507	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	EHBP1_ENST00000405289.1_Missense_Mutation_p.R307K|EHBP1_ENST00000405015.3_Missense_Mutation_p.R307K|EHBP1_ENST00000354487.3_Missense_Mutation_p.R307K|EHBP1_ENST00000431489.1_Missense_Mutation_p.R307K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	342				R -> G (in Ref. 2; AAQ97141 and 3; CAD38814).		cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCTACAAAAAGAAAAAATATA	0.383000													19	49					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505311	24505311	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:24505311G>A	ENST00000264463.4	-	8	1810	c.1303C>T	c.(1303-1305)Cat>Tat	p.H435Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	435	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTCCTGAATGAATGTTAAAG	0.373000										HNSCC(23;0.051)			12	15					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861101	52861101	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:52861101C>T	ENST00000343457.3	-	4	2093	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	696						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAACTCACAGCAAGTGTCAGA	0.517000													10	57					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28071219	28071219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:28071219C>T	ENST00000373954.6	+	5	511	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	FAM76A_ENST00000010299.6_Nonsense_Mutation_p.Q171*|FAM76A_ENST00000234549.7_Nonsense_Mutation_p.Q171*|FAM76A_ENST00000373949.1_Nonsense_Mutation_p.Q137*|FAM76A_ENST00000530324.1_Nonsense_Mutation_p.Q137*|FAM76A_ENST00000419687.2_Nonsense_Mutation_p.Q86*	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	137										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGGTCCTTCAGAAGACCAA	0.488000													28	66					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68470887	68470887	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:68470887C>G	ENST00000256442.5	+	6	1142	c.889C>G	c.(889-891)Ctg>Gtg	p.L297V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAACTTTGGTCTGGGTCGGCC	0.433000													38	52					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120197788	120197788	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:120197788C>T	ENST00000019103.5	-	13	1495	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	410					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGTGGGAACTCACGGAGGTGC	0.627000													13	40					0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50189926	50189926	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:50189926G>A	ENST00000532489.1	+	10	1343	c.837G>A	c.(835-837)gtG>gtA	p.V279V	PRMT1_ENST00000454376.2_Silent_p.V325V|PRMT1_ENST00000391851.4_Silent_p.V307V			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	306						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACCTGACCGTGAAGACGGGCG	0.687000													19	56					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75316863	75316863	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:75316863C>T	ENST00000434603.2	-	3	1370	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	MAP6_ENST00000526740.1_Missense_Mutation_p.E107K|MAP6_ENST00000304771.3_Missense_Mutation_p.E436K	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	436						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCTTTCGCCTCAGCCAGTTTA	0.483000													42	100					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84610162	84610162	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:84610162G>A	ENST00000370685.3	+	1	209	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370689.2_Intron|PRKACB_ENST00000370688.3_Intron	NM_001242862.1|NM_182948.2	NP_001229791.1|NP_891993.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	0					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TACTGCACATGATCAGAAAAC	0.373000													31	41					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:1940449C>A	ENST00000543818.1	+	4	1258	c.416C>A	c.(415-417)tCg>tAg	p.S139*	LRTM2_ENST00000535041.1_Nonsense_Mutation_p.S139*|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Nonsense_Mutation_p.S139*|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652000													27	84					1.38267e-23	1.494e-23	1	1	0
SLTM	79811	broad.mit.edu	37	15	59181706	59181706	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:59181706G>A	ENST00000380516.2	-	16	2214	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	SLTM_ENST00000536328.1_Silent_p.L278L	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	709	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTGCCTTCTGAGTTCCTCTC	0.403000													10	33					0	0	1	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58201601	58201601	+	Silent	SNP	G	G	A	rs145261377		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:58201601G>A	ENST00000262506.3	-	7	795	c.612C>T	c.(610-612)ctC>ctT	p.L204L	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	204	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GATAGTCCACGAGGAGCTCTG	0.448000													24	54					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50789403	50789403	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:50789403C>T	ENST00000433963.1	+	19	3513	c.3013C>T	c.(3013-3015)Cct>Tct	p.P1005S	RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000307179.4_Missense_Mutation_p.P1005S|USP8_ENST00000396444.3_Missense_Mutation_p.P1005S|USP8_ENST00000425032.3_Missense_Mutation_p.P899S			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1005					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAAGTTACCACCTGTGCTTTT	0.368000													28	57					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24110718	24110718	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:24110718C>G	ENST00000238789.5	-	4	899	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	186							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAGTTGATCAAATAACAAA	0.318000													22	64					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74192240	74192240	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:74192240G>C	ENST00000498286.1	+	9	1811	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	MTO1_ENST00000370305.1_Missense_Mutation_p.E463Q|MTO1_ENST00000370300.4_Missense_Mutation_p.E537Q|MTO1_ENST00000415954.2_Missense_Mutation_p.E552Q			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	537					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GTCTTCTTTAGAAGAAGGCAT	0.383000													6	24					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98312796	98312796	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:98312796G>A	ENST00000371142.4	-	6	897	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	227						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGAAGGAGTTGAAAATTGAAA	0.343000													4	13					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901021	40901021	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:40901021G>A	ENST00000324001.7	-	7	3508	c.3238C>T	c.(3238-3240)Cgt>Tgt	p.R1080C	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1080					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTGGCACGATCACCTTGA	0.632000													34	52					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66850901	66850901	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:66850901C>G	ENST00000379463.2	-	11	889	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	NAE1_ENST00000290810.3_Missense_Mutation_p.E239Q|NAE1_ENST00000359087.4_Missense_Mutation_p.E242Q|NAE1_ENST00000394074.2_Missense_Mutation_p.E150Q	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	239					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCCTCTTTTTCTTTATACGTT	0.274000													8	25					0	0	1	0	0
FAM43A	131583	broad.mit.edu	37	3	194407595	194407595	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:194407595G>A	ENST00000329759.4	+	1	974	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	14										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GCTGCTGGCCGAGGCGCCGCC	0.761000													18	28					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569040	11569040	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:11569040G>C	ENST00000359227.3	-	5	973	c.549C>G	c.(547-549)atC>atG	p.I183M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.I183M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	183	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGTCCTTTGATAGCCTCTT	0.602000													38	62					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917088	45917088	+	Silent	SNP	G	G	A	rs151203192		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:45917088G>A	ENST00000185206.6	-	3	833	c.681C>T	c.(679-681)ccC>ccT	p.P227P	CLIC5_ENST00000339561.6_Silent_p.P68P|CLIC5_ENST00000544153.1_Silent_p.P68P	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	227					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGTGCGTGCCGGGGGCTAGGT	0.542000													41	115					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50100969	50100969	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:50100969C>G	ENST00000418929.2	+	4	3389	c.3377C>G	c.(3376-3378)tCc>tGc	p.S1126C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	305							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GACCTGGTCTCCAGCTGCCGC	0.701000													7	16					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114899738	114899738	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:114899738C>T	ENST00000315366.7	-	1	1119	c.253G>A	c.(253-255)Gat>Aat	p.D85N	ARSJ_ENST00000541197.1_Missense_Mutation_p.D85N|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	85						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AATCCCTGATCATCCGCTAGG	0.488000													14	44					0	0	1	0	0
C6orf120	387263	broad.mit.edu	37	6	170102739	170102739	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:170102739G>A	ENST00000332290.2	+	1	483	c.184G>A	c.(184-186)Gag>Aag	p.E62K	C6orf120_ENST00000439249.1_Missense_Mutation_p.E81K	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	62						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GCTGAACCACGAGGGCAAGAT	0.647000													6	24					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46509458	46509458	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:46509458G>C	ENST00000262741.5	-	10	1962	c.1273C>G	c.(1273-1275)Ctg>Gtg	p.L425V	PIK3R3_ENST00000540385.1_Missense_Mutation_p.L471V|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Missense_Mutation_p.L366V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L366V|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L425V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L425V|PIK3R3_ENST00000340332.6_Missense_Mutation_p.L330V	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	425	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AGCTCCTTCAGAGAGCTGTAC	0.547000													10	32					0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99901155	99901155	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:99901155C>T	ENST00000409448.1	-	7	778	c.462G>A	c.(460-462)ctG>ctA	p.L154L	LYG1_ENST00000308528.4_Silent_p.L154L			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	154					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						ACGTACCTCTCAGGTACTGGT	0.458000													19	52					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150956	247150956	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:247150956C>G	ENST00000339986.7	-	4	1008	c.861G>C	c.(859-861)aaG>aaC	p.K287N	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	287					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			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)			TATGAATTTTCTTATGTTTAG	0.353000													9	14					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100071904	100071904	+	Missense_Mutation	SNP	C	C	A	rs151058099		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:100071904C>A	ENST00000300181.2	-	3	1676	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.D69Y	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	308					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACCTATCATCGTCGCTGTCT	0.597000													25	48					4.22769e-11	4.4226e-11	1	1	0
PAQR3	152559	broad.mit.edu	37	4	79847863	79847863	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:79847863G>C	ENST00000512733.1	-	4	727	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	PAQR3_ENST00000380645.4_Missense_Mutation_p.Q172E|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	172						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AAGTACACCTGACGCCAGTAC	0.388000													44	74					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185897700	185897700	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:185897700G>C	ENST00000271588.4	+	10	1682	c.1453G>C	c.(1453-1455)Gat>Cat	p.D485H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D485H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	485	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGAACTTAGATATTGCAAA	0.378000													23	51					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85486794	85486794	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:85486794G>A	ENST00000370589.2	-	12	1538	c.1486C>T	c.(1486-1488)Ctt>Ttt	p.L496F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.L440F|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	496						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GCAATGAAAAGACTTAAAATC	0.338000													14	15					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119059249	119059249	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:119059249C>T	ENST00000371410.3	-	9	1348	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	394	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GAATCTTGTTCTCTCTCTTTC	0.418000													23	26					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1328173	1328173	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:1328173C>G	ENST00000408918.4	-	6	680	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	CCNL2_ENST00000400809.3_Intron|CCNL2_ENST00000408952.5_5'UTR	NM_001039577.3	NP_001034666.1	Q96S94	CCNL2_HUMAN	cyclin L2	0	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACTTACCCTCAGAGGCTACC	0.458000													11	6					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189889	7189889	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:7189889G>A	ENST00000317370.8	+	11	1739	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	491					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTCTCTTTTAGAGCAGGAGGT	0.557000													134	300					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70549669	70549669	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:70549669G>C	ENST00000265872.6	+	24	3509	c.3390G>C	c.(3388-3390)aaG>aaC	p.K1130N	CCAR1_ENST00000543719.1_Missense_Mutation_p.K1115N|CCAR1_ENST00000535016.1_Missense_Mutation_p.K1115N	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1130					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTGTTCTCAAGAAGGTGAGAA	0.264000													18	11					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53381463	53381463	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:53381463C>G	ENST00000607628.1	-	1	191	c.82G>C	c.(82-84)Gac>Cac	p.D28H	DCP1A_ENST00000606822.1_Missense_Mutation_p.D28H|DCP1A_ENST00000294241.6_Missense_Mutation_p.D28H|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	28					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CCCGTGAGGTCTGCGATGCTG	0.647000													11	40					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192731	203192731	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:203192731G>C	ENST00000367229.1	-	5	406	c.372C>G	c.(370-372)atC>atG	p.I124M	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.I105M|CHIT1_ENST00000535569.1_Missense_Mutation_p.I115M	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	124					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCAGAAACCTGATGGCCGAGT	0.572000													58	116					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916862	97916862	+	RNA	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:97916862C>G	ENST00000534948.1	+	0	1640							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTACTTTTCCCTTCACTTGTC	0.348000													13	16					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447515	74447515	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:74447515C>A	ENST00000339953.5	-	4	637	c.516G>T	c.(514-516)caG>caT	p.Q172H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	172	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTATCGCTGTCTGGCCTGCAG	0.602000													31	147					6.70999e-13	7.10268e-13	1	1	0
C4BPB	725	broad.mit.edu	37	1	207273176	207273176	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:207273176A>T	ENST00000243611.5	+	6	955	c.661A>T	c.(661-663)Aac>Tac	p.N221Y	C4BPB_ENST00000367078.3_Missense_Mutation_p.N221Y|C4BPB_ENST00000367076.3_Missense_Mutation_p.N220Y|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000391923.1_Missense_Mutation_p.N221Y	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	221					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AGCCATGGAGAACTTTATGCA	0.393000													25	42					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34035133	34035133	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:34035133C>T	ENST00000373381.4	-	52	8148	c.7972G>A	c.(7972-7974)Gag>Aag	p.E2658K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2660	Sushi 17.					integral to membrane|plasma membrane	protein binding			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)				ATCGGGAGCTCTCCACAGGAG	0.527000													6	41					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21658779	21658779	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:21658779G>A	ENST00000328843.6	+	24	4362	c.4331G>A	c.(4330-4332)aGa>aAa	p.R1444K	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1439K|DNAH11_ENST00000465593.1_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1444	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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						CGGTTACACAGAGTGGAAGAT	0.438000									Kartagener syndrome				7	23					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183559431	183559431	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:183559431C>T	ENST00000413720.1	-	1	308	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	NCF2_ENST00000367535.3_Missense_Mutation_p.E12K|NCF2_ENST00000418089.1_Missense_Mutation_p.E12K|NCF2_ENST00000367536.1_Missense_Mutation_p.E12K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	12					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AGCACCCCTTCATTCCAGAGG	0.577000													43	70					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341673	157341673	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:157341673C>T	ENST00000389413.3	-	21	2959	c.2856G>A	c.(2854-2856)ttG>ttA	p.L952L	PTPRN2_ENST00000409483.1_Silent_p.L943L|PTPRN2_ENST00000389418.4_Silent_p.L981L|PTPRN2_ENST00000389416.4_Silent_p.L964L|PTPRN2_ENST00000404321.2_Silent_p.L1004L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	981	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTGGTCCCTCAAGTGCTCCA	0.547000													25	78					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145730208	145730208	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:145730208G>A	ENST00000394955.2	+	3	530	c.307G>A	c.(307-309)Gat>Aat	p.D103N	GPT_ENST00000528431.1_Missense_Mutation_p.D103N	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	103					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTCCCTGACGATGCCAAGAA	0.647000													129	333					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934814	119934814	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:119934814G>T	ENST00000361035.4	+	7	1175	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	HAO2_ENST00000325945.3_Missense_Mutation_p.D285Y			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	285	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AACTGGCAATGATGTGCTGAA	0.502000													24	58					4.7796e-09	4.96665e-09	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63174348	63174348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:63174348G>A	ENST00000322893.7	-	11	3113	c.2845C>T	c.(2845-2847)Cag>Tag	p.Q949*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	949					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATGAGGCCTGGGGTACGCTT	0.473000													62	124					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197863665	197863665	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:197863665C>T	ENST00000328737.2	-	24	2632	c.2556G>A	c.(2554-2556)atG>atA	p.M852I	ANKRD44_ENST00000450567.1_Missense_Mutation_p.M852I|ANKRD44_ENST00000337207.5_Missense_Mutation_p.M852I|ANKRD44_ENST00000282272.8_Missense_Mutation_p.M869I			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	877							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGCAGCCATCATCAGTGCTG	0.478000													14	50					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16963895	16963895	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:16963895C>T	ENST00000379803.1	+	7	879	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	SIN3B_ENST00000248054.5_Missense_Mutation_p.R289C|SIN3B_ENST00000596802.1_Missense_Mutation_p.R289C	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	289	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.R289C(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGAAACTTCGTGGTACCAA	0.512000													21	53					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45887429	45887429	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:45887429G>A	ENST00000372086.3	-	3	712	c.312C>T	c.(310-312)ctC>ctT	p.L104L	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.L104L|TESK2_ENST00000538496.1_Silent_p.L21L|TESK2_ENST00000341771.6_Silent_p.L104L|TESK2_ENST00000451835.2_Silent_p.L104L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	104	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTCTATTCATGAGCTGTACTT	0.433000													45	91					0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482676	69482676	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:69482676C>T	ENST00000279147.4	-	4	439	c.332G>A	c.(331-333)gGa>gAa	p.G111E	ORAOV1_ENST00000535657.1_Missense_Mutation_p.G111E|ORAOV1_ENST00000539414.1_Missense_Mutation_p.G111E|ORAOV1_ENST00000536870.1_Missense_Mutation_p.G52E	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	111										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TTTAAATTTTCCTCTGATCTT	0.498000													19	21					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51483924	51483924	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:51483924G>C	ENST00000371117.3	-	67	12455	c.12180C>G	c.(12178-12180)ttC>ttG	p.F4060L	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4060					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			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)					AATGAAGGCAGAATGCCTCAG	0.537000													33	41					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12208791	12208791	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:12208791G>C	ENST00000432424.2	+	0	1210							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCTGGAGCAGATTGCCATGT	0.517000													5	17					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64514755	64514755	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:64514755C>G	ENST00000358025.3	+	46	7489	c.7259C>G	c.(7258-7260)tCt>tGt	p.S2420C	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S2453C|SYNE2_ENST00000344113.4_Missense_Mutation_p.S2420C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2420					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAACTTTCTCTTAATGCT	0.308000													6	29					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276372	63276372	+	Missense_Mutation	SNP	G	G	A	rs151129208	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:63276372G>A	ENST00000415491.2	+	2	778	c.164G>A	c.(163-165)cGc>cAc	p.R55H	LGALS12_ENST00000340246.5_Missense_Mutation_p.R117H|LGALS12_ENST00000394618.3_Missense_Mutation_p.R116H|LGALS12_ENST00000425950.2_Missense_Mutation_p.R55H|LGALS12_ENST00000255684.5_Missense_Mutation_p.R116H	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	116	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CATGGTGGACGCTGGCAAAGG	0.602000													32	67					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35783680	35783680	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:35783680G>C	ENST00000394395.2	+	3	270	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	TADA2A_ENST00000225396.6_Missense_Mutation_p.E33Q|TADA2A_ENST00000417170.1_Missense_Mutation_p.E33Q|TADA2A_ENST00000586023.1_Missense_Mutation_p.E33Q	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	33	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CAAGTGTGCTGAATGTGGGCC	0.433000													41	83					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773565	145773565	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:145773565G>T	ENST00000276826.5	-	4	1106	c.905C>A	c.(904-906)tCc>tAc	p.S302Y	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S302Y|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S302Y			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	302	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCGCGGGGAGGAGGGCTGCGA	0.682000													21	37					1.50039e-11	1.57484e-11	1	1	0
TRAF2	7186	broad.mit.edu	37	9	139815555	139815555	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:139815555C>T	ENST00000359662.3	+	9	1227	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	TRAF2_ENST00000536468.1_Silent_p.V342V|TRAF2_ENST00000247668.2_Silent_p.V342V			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	342	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		AGCAGAAGGTCTTGGAGATGG	0.602000													21	39					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949332	7949332	+	Missense_Mutation	SNP	C	C	T	rs143603778		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:7949332C>T	ENST00000309838.2	-	1	877	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(2)		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)		CTCACTATTTCGCAAACTGTA	0.418000													20	70					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33269508	33269508	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:33269508G>C	ENST00000314144.5	-	7	995	c.880C>G	c.(880-882)Caa>Gaa	p.Q294E	CCT6B_ENST00000421975.3_Missense_Mutation_p.Q257E|CCT6B_ENST00000436961.3_Missense_Mutation_p.Q249E	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	294					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CTCACCTTTTGATTAATGACG	0.318000													4	15					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4446075	4446075	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:4446075C>T	ENST00000301281.6	-	10	1295	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E338K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	391	UBX.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCCAGGTTCTCGTCCTCGGAC	0.682000													34	81					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619163	52619163	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:52619163G>A	ENST00000600228.1	-	4	1515	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AACGTTTACTGAAGACCTTGC	0.408000													34	86					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432500	10432500	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:10432500C>T	ENST00000245503.5	-	26	3717	c.3333G>A	c.(3331-3333)caG>caA	p.Q1111Q	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.Q1111Q|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1111					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TAATTTTCTTCTGCAATTGAA	0.368000													12	26					0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50386853	50386853	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:50386853C>T	ENST00000232501.3	-	4	850	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	138					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GCATTTAGCTCCTCCAGCAAG	0.557000													20	43					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883545	52883545	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:52883545G>C	ENST00000343457.3	-	1	241	c.235C>G	c.(235-237)Cac>Gac	p.H79D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	79						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTCGTGTGAGACTGTAAG	0.363000													4	33					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319520	78319520	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:78319520C>G	ENST00000582970.1	+	29	7528	c.7385C>G	c.(7384-7386)tCc>tGc	p.S2462C	RNF213_ENST00000508628.2_Missense_Mutation_p.S2511C|RNF213_ENST00000336301.6_Missense_Mutation_p.S535C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGATCTACTCCAGAGTCAGG	0.478000													33	75					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17732668	17732668	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:17732668C>G	ENST00000428389.2	-	38	4478	c.4479G>C	c.(4477-4479)ttG>ttC	p.L1493F	UNC13A_ENST00000252773.7_Missense_Mutation_p.L1405F|UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000551649.1_Missense_Mutation_p.L1405F|UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000519716.2_Missense_Mutation_p.L1405F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1405	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATGTTTTCTCAAGAGGTTCC	0.537000													30	69					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58080568	58080568	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:58080568G>A	ENST00000357272.4	+	5	958	c.793G>A	c.(793-795)Gag>Aag	p.E265K	FLNB_ENST00000358537.3_Missense_Mutation_p.E265K|FLNB_ENST00000295956.4_Missense_Mutation_p.E265K|FLNB_ENST00000348383.5_Missense_Mutation_p.E265K|FLNB_ENST00000490882.1_Missense_Mutation_p.E265K|FLNB_ENST00000429972.2_Missense_Mutation_p.E265K|FLNB_ENST00000493452.1_Missense_Mutation_p.E96K|FLNB_ENST00000419752.2_Missense_Mutation_p.E96K			O75369	FLNB_HUMAN	filamin B, beta	265					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGCAGGAATCGAGCCCACTGG	0.552000													73	159					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119460240	119460240	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:119460240G>C	ENST00000450136.1	+	2	380	c.219G>C	c.(217-219)ttG>ttC	p.L73F	TRIM32_ENST00000373983.2_Missense_Mutation_p.L73F|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	73					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TAACCAGCTTGACCCAGCTGA	0.562000													21	60					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477563	10477563	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:10477563G>C	ENST00000538557.1	+	10	1311	c.1067G>C	c.(1066-1068)aGa>aCa	p.R356T	PGD_ENST00000270776.8_Missense_Mutation_p.R369T|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Missense_Mutation_p.R347T			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	369					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGCATCATTAGAAGGTAAGTG	0.557000													27	46					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49219014	49219014	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:49219014G>A	ENST00000301050.2	+	7	760	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CACNB3_ENST00000540990.1_Silent_p.L174L|CACNB3_ENST00000547230.1_Silent_p.L146L|CACNB3_ENST00000547392.1_Intron|CACNB3_ENST00000536187.2_Silent_p.L186L	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	187					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GACCCTCTCTGAAAGGTTATG	0.562000													17	24					0	0	1	0	0
IER2	9592	broad.mit.edu	37	19	13264012	13264012	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:13264012G>A	ENST00000588173.1	+	1	1224	c.12G>A	c.(10-12)caG>caA	p.Q4Q	CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Silent_p.Q4Q|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.Q4Q			Q9BTL4	IER2_HUMAN	immediate early response 2	4										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGAAGTGCAGAAAGAGGCAC	0.667000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103117	168103117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:168103117G>T	ENST00000409195.1	+	9	5304	c.5215G>T	c.(5215-5217)Gag>Tag	p.E1739*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1517*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1739*|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1564					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGATGCCTCTGAGAGAGGAAA	0.368000													11	35					3.86212e-05	3.93463e-05	1	1	0
WASF1	8936	broad.mit.edu	37	6	110423400	110423400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:110423400C>A	ENST00000392589.1	-	10	1749	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	WASF1_ENST00000392586.1_Nonsense_Mutation_p.E305*|WASF1_ENST00000392588.1_Nonsense_Mutation_p.E305*|WASF1_ENST00000392587.2_Nonsense_Mutation_p.E305*|WASF1_ENST00000359451.2_Nonsense_Mutation_p.E305*	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	305					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGCGATTTTCTATCAAACCT	0.438000													34	97					6.99958e-10	7.28563e-10	1	1	0
FMO1	2326	broad.mit.edu	37	1	171249990	171249990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:171249990G>A	ENST00000354841.4	+	5	824	c.693G>A	c.(691-693)tgG>tgA	p.W231*	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.W168*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.W231*	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	231					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTACCCATGGGACATGGTGT	0.498000													26	60					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023536	67023536	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:67023536G>C	ENST00000340001.4	-	14	2057	c.1846C>G	c.(1846-1848)Caa>Gaa	p.Q616E	ABCA9_ENST00000370732.2_Missense_Mutation_p.Q616E|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q616E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	616	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			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)					CTTAAGTTTTGAGCAAGGATG	0.318000													6	17					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51855718	51855718	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:51855718C>T	ENST00000581310.1	-	8	851	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Splice_Site_p.E160K			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	160	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AACACTTACTCTTCCATTGGT	0.348000													36	115					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109472432	109472432	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:109472432G>A	ENST00000406462.2	+	16	2698	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K	GPSM2_ENST00000264126.3_Missense_Mutation_p.R642K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_3'UTR|CLCC1_ENST00000369971.2_3'UTR|CLCC1_ENST00000415331.1_3'UTR|CLCC1_ENST00000356970.2_3'UTR|CLCC1_ENST00000369969.2_3'UTR			P81274	GPSM2_HUMAN	G-protein signaling modulator 2		GoLoco 4.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CAGGGAAAGAGAATGGATGAA	0.403000													11	31					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102159935	102159935	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:102159935C>T	ENST00000299314.7	-	12	1808	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	516					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAGAACTTATCAGCGAGCCAG	0.483000													50	122					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101591930	101591930	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:101591930G>A	ENST00000284395.5	+	25	3845	c.3445G>A	c.(3445-3447)Gag>Aag	p.E1149K	LRRK1_ENST00000388948.3_Missense_Mutation_p.E1152K|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1152					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACAGCCACAGAGAGCGACGG	0.627000													16	48					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5208373	5208373	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:5208373G>C	ENST00000372412.4	-	36	5753	c.5520C>G	c.(5518-5520)ttC>ttG	p.F1840L	PTPRS_ENST00000588012.1_Missense_Mutation_p.F1801L|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1392L|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1801L|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1392L|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1839L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1819L|PTPRS_ENST00000587303.1_Missense_Mutation_p.F1839L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1839	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGTGAACTGGAACTGCCGGA	0.567000													8	27					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38857397	38857397	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:38857397C>T	ENST00000264651.2	-	3	906	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	284	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCTACCTCCTCGTGGTTCTTC	0.473000													22	60					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155255061	155255061	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:155255061G>C	ENST00000368358.3	+	5	1203	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	399						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGTTCGATGAGGAAAGCAT	0.627000													25	73					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359969	49359969	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:49359969C>T	ENST00000301061.4	-	5	1427	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	360					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GCGCTCAACTCGTGTCTGCCG	0.612000													19	44					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108135694	108135694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:108135694C>A	ENST00000273353.3	-	30	4029	c.3973G>T	c.(3973-3975)Gaa>Taa	p.E1325*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1325						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCAGGTCTTCAATCTGCCGA	0.408000													16	50					5.03518e-11	5.26291e-11	1	1	0
WDPCP	51057	broad.mit.edu	37	2	63631226	63631226	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:63631226G>C	ENST00000409120.1	-	4	4366	c.816C>G	c.(814-816)ctC>ctG	p.L272L	WDPCP_ENST00000398544.3_Silent_p.L305L|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.L464L|WDPCP_ENST00000272321.7_Silent_p.L464L|WDPCP_ENST00000409199.1_Silent_p.L272L			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	464					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TTTCAAACCTGAGGAAGAGGA	0.388000													23	49					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406333	38406333	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:38406333C>T	ENST00000322350.5	+	7	1164	c.818C>T	c.(817-819)tCc>tTc	p.S273F	EGFLAM_ENST00000336740.6_Missense_Mutation_p.S39F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S273F|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	273						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGGATATTTCCTTTGAGGAG	0.443000													10	34					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199353	89199353	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:89199353C>A	ENST00000608933.1	-	2	772	c.383G>T	c.(382-384)gGa>gTa	p.G128V	PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000315194.4_Missense_Mutation_p.G128V|PPM1K_ENST00000295908.7_Missense_Mutation_p.G128V|PPM1K_ENST00000514204.1_Missense_Mutation_p.G128V|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		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)		TCCACCGTGTCCATCATACAC	0.468000													5	27					5.9392e-07	6.12572e-07	1	1	0
HIPK2	28996	broad.mit.edu	37	7	139416669	139416669	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:139416669C>T	ENST00000406875.3	-	2	259	c.165G>A	c.(163-165)aaG>aaA	p.K55K	HIPK2_ENST00000342645.6_Silent_p.K55K|HIPK2_ENST00000428878.2_Silent_p.K55K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	55					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGGGATGTTCTTGCTCTGGC	0.547000													12	23					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24808841	24808841	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:24808841G>C	ENST00000395799.3	+	10	3721	c.3592G>C	c.(3592-3594)Gaa>Caa	p.E1198Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1198Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1198	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAAACAAGAAGAAGCGTGGAT	0.363000													9	13					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5958616	5958616	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:5958616C>G	ENST00000378896.3	+	13	1867	c.1490C>G	c.(1489-1491)tCt>tGt	p.S497C	MCM8_ENST00000265187.4_Missense_Mutation_p.S481C|MCM8_ENST00000378886.2_Missense_Mutation_p.S537C|MCM8_ENST00000378883.1_Missense_Mutation_p.S450C	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	497	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATAGTTCCTCTGGAGATTTT	0.478000													13	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130808	34130808	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:34130808C>T	ENST00000389232.4	+	89	12697	c.12627C>T	c.(12625-12627)atC>atT	p.I4209I	RYR3_ENST00000415757.3_Silent_p.I4204I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4209					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTTCAGATCCTCTGGAGCA	0.527000													19	23					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425545	49425545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:49425545G>A	ENST00000301067.7	-	39	12942	c.12943C>T	c.(12943-12945)Caa>Taa	p.Q4315*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTTGGCTCTTGAGGGCTGGAT	0.637000													10	25					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13886135	13886135	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:13886135G>C	ENST00000265104.4	-	18	2785	c.2681C>G	c.(2680-2682)tCt>tGt	p.S894C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	894	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TTCTTCTTCAGATAAAACTTC	0.333000									Kartagener syndrome				6	22					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053361	49053361	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:49053361G>C	ENST00000440857.1	-	11	1689	c.987C>G	c.(985-987)ttC>ttG	p.F329L	WDR6_ENST00000608424.1_3'UTR|DALRD3_ENST00000313778.5_Intron|WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000341949.4_Intron|DALRD3_ENST00000441576.2_Intron|DALRD3_ENST00000395462.4_Intron			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	0					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCCAGGCCAGAATAAAGAAT	0.527000													26	56					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70303574	70303574	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:70303574C>T	ENST00000261772.8	-	7	1052	c.909G>A	c.(907-909)cgG>cgA	p.R303R		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	303					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CAGTGATGGTCCGAGCGTGGT	0.602000													69	188					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071845	17071845	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:17071845G>A	ENST00000359963.3	-	1	1855	c.1596C>T	c.(1594-1596)atC>atT	p.I532I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	532					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGATTCCAGATCTCCTGAT	0.448000													30	95					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705118	40705118	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:40705118G>C	ENST00000372771.4	+	8	4771	c.4744G>C	c.(4744-4746)Gag>Cag	p.E1582Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1582					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGCCTATTTAGAGCAACAGAT	0.433000													17	38					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185905998	185905998	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:185905998G>A	ENST00000265022.3	-	22	2627	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	DGKG_ENST00000382164.4_Silent_p.C657C|DGKG_ENST00000344484.4_Silent_p.C671C|DGKG_ENST00000544847.1_Silent_p.C637C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TACCTTGAACGCAGAATTTCA	0.527000													32	93					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43647311	43647311	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:43647311C>G	ENST00000292246.3	-	2	204	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	ANO10_ENST00000451430.2_Missense_Mutation_p.E12Q|ANO10_ENST00000414522.2_Missense_Mutation_p.E12Q|ANO10_ENST00000396091.3_Missense_Mutation_p.E12Q|ANO10_ENST00000350459.4_Missense_Mutation_p.E12Q	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	12					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAAGAACTCTCAGAAGTATCC	0.338000													11	18					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150068727	150068727	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:150068727C>T	ENST00000397281.2	+	4	886	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	REPIN1_ENST00000540729.1_Silent_p.L133L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.L190L|REPIN1_ENST00000425389.2_Silent_p.L133L|REPIN1_ENST00000482680.1_3'UTR|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Silent_p.L133L	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	133					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGCCCTGGTTCTGCATCTGCG	0.637000													3	12					0	0	1	0	0
C12orf23	90488	broad.mit.edu	37	12	107360922	107360922	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:107360922G>C	ENST00000280756.4	+	3	446	c.28G>C	c.(28-30)Gaa>Caa	p.E10Q	C12orf23_ENST00000547242.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000551489.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000548125.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000550344.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000547081.1_Missense_Mutation_p.E10Q|C12orf23_ENST00000551813.1_Missense_Mutation_p.E10Q	NM_152261.2	NP_689474.1	Q8WUH6	CL023_HUMAN	chromosome 12 open reading frame 23	10						integral to membrane				endometrium(1)|lung(2)	3						AAATCAACAAGAAATCCCATC	0.308000													10	23					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235952110	235952110	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:235952110G>C	ENST00000389794.3	-	13	4753	c.4579C>G	c.(4579-4581)Cct>Gct	p.P1527A	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.P1527A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1527					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTCACCAGGATTTATGTAC	0.398000													9	22					0	0	1	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123126094	123126094	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:123126094C>G	ENST00000368440.4	+	6	956	c.779C>G	c.(778-780)tCt>tGt	p.S260C	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S129C	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	260					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TATCTGCCATCTTCACAGAAC	0.353000													20	47					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125580653	125580653	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:125580653G>A	ENST00000518547.1	-	7	1058	c.585C>T	c.(583-585)ttC>ttT	p.F195F	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000524090.1_Silent_p.F85F|MTSS1_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000378017.3_Silent_p.F195F|MTSS1_ENST00000325064.5_Silent_p.F199F	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	195	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			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)			TGAAGGTACAGAATCGGCCAC	0.428000													24	55					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198697499	198697499	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:198697499C>T	ENST00000367376.2	+	16	1916	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	PTPRC_ENST00000594404.1_Missense_Mutation_p.A421V|PTPRC_ENST00000442510.2_Missense_Mutation_p.A584V|PTPRC_ENST00000348564.6_Missense_Mutation_p.A423V|PTPRC_ENST00000352140.3_Missense_Mutation_p.A534V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	582					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.A582V(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCATTTCTGGCATTTCTGATT	0.318000													13	40					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668466	10668466	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:10668466C>G	ENST00000312962.6	-	15	1502	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	KRI1_ENST00000361821.5_Missense_Mutation_p.E491Q	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	495										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)			ACGGGCTTCTCCTGCCCCACG	0.697000													14	39					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15367059	15367059	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:15367059C>T	ENST00000263377.2	-	9	1788	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.E523K|BRD4_ENST00000371835.4_Missense_Mutation_p.E523K	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	523					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			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)			GCAAGCTGCTCGTGCACGGCT	0.493000			T	C15orf55	lethal midline carcinoma of young people								30	105					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76567725	76567725	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:76567725C>T	ENST00000389840.5	-	4	803	c.679G>A	c.(679-681)Gag>Aag	p.E227K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E227K					dynein, axonemal, heavy chain 17											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)			AACTCGAACTCCACTTGGGGC	0.617000													28	78					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418745	135418745	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:135418745G>C	ENST00000338588.3	-	3	765	c.500C>G	c.(499-501)tCa>tGa	p.S167*	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Nonsense_Mutation_p.S167*	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	167						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCCCGGCTGTGAGGAGCGCAT	0.592000													7	22					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77808332	77808332	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:77808332C>T	ENST00000216468.7	-	6	816		c.e6-1			NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8						transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGAACGGGTTCTGCGTGAGCA	0.602000													12	28					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104378626	104378626	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:104378626C>G	ENST00000392872.3	+	8	1126	c.892C>G	c.(892-894)Cag>Gag	p.Q298E	TDG_ENST00000544861.1_Missense_Mutation_p.Q155E|TDG_ENST00000542036.1_Missense_Mutation_p.Q94E|TDG_ENST00000266775.9_Missense_Mutation_p.Q294E	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	298					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CTTAAGAGATCAGTTGAAAGG	0.408000								Base excision repair (BER), DNA glycosylases					5	74					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659621	24659621	+	RNA	SNP	T	T	C	rs116751564	by1000genomes	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:24659621T>C	ENST00000414583.2	+	0	3146					NR_003714.1																						CCTGGATGTCTGCGGCCACAC	0.637000													6	41					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133851636	133851636	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:133851636G>C	ENST00000395386.2	+	18	2495	c.2196G>C	c.(2194-2196)caG>caC	p.Q732H	PHF20L1_ENST00000220847.7_Missense_Mutation_p.Q119H|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q707H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	732							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	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)			CTGCAGGTCAGAGGTGGAGTG	0.383000													22	57					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015893	47015893	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47015893C>G	ENST00000584895.1	-	5	357	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	RPL17_ENST00000579248.1_Missense_Mutation_p.E115Q|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000418495.1_Missense_Mutation_p.E115Q|RPL17_ENST00000579408.1_Missense_Mutation_p.E115Q|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E77Q|RPL17_ENST00000580261.1_Missense_Mutation_p.E115Q|RPL17_ENST00000581373.1_Missense_Mutation_p.E77Q|RPL17_ENST00000580210.1_Missense_Mutation_p.E105Q	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					TGGATATGCTCAATGACCAGA	0.448000													13	23					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152246	161152246	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:161152246G>C	ENST00000308192.9	+	11	1483	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	474					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGATGTAGAGACTCCTTC	0.498000													15	23					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415212	62415212	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62415212G>T	ENST00000330574.2	-	2	2392	c.2340C>A	c.(2338-2340)ctC>ctA	p.L780L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	780					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGGCTGAGGAGGCTCT	0.572000													29	85					2.36697e-06	2.43326e-06	1	1	0
IGHV1-3	28473	broad.mit.edu	37	14	106471354	106471354	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:106471354C>T	ENST00000390595.2	-	0	284																											CCTGGAACTCCTGTGAATATT	0.537000													52	159					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73753635	73753635	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:73753635G>A	ENST00000200181.3	+	40	5655	c.5468G>A	c.(5467-5469)tGa>tAa	p.*1823*	ITGB4_ENST00000339591.3_Silent_p.*1806*|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.*1753*|ITGB4_ENST00000449880.2_Silent_p.*1806*|ITGB4_ENST00000450894.3_Silent_p.*1753*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	0					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCCAAACTTGACCGCACCCT	0.652000													39	121					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142223	29142223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:29142223C>T	ENST00000377167.2	+	1	913	c.811C>T	c.(811-813)Cag>Tag	p.Q271*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTCTCCTGATCAGGGCAAGTT	0.433000													31	57					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54003679	54003679	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:54003679C>G	ENST00000396328.1	-	8	951		c.e8-1		WDR72_ENST00000557913.1_Splice_Site|WDR72_ENST00000360509.5_Splice_Site|WDR72_ENST00000559418.1_Splice_Site	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72											NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AATCATAAACCTAAAATATGA	0.338000													12	35					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284630	19284630	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:19284630G>A	ENST00000308406.5	+	4	1494	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	MAPK7_ENST00000395604.3_Missense_Mutation_p.E370K|MAPK7_ENST00000299612.7_Missense_Mutation_p.E231K|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.E370K	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	370	Necessary for oligomerization (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTTTGACCGCGAAGCCCTCAC	0.587000													17	70					0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12982559	12982559	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:12982559C>T	ENST00000262124.11	+	7	931	c.804C>T	c.(802-804)atC>atT	p.I268I	SEH1L_ENST00000592582.1_3'UTR|SEH1L_ENST00000399892.2_Silent_p.I268I	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	268					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						AGTTTGAAATCCATATAGTGG	0.383000													21	28					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12262651	12262651	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:12262651C>A	ENST00000256194.4	+	18	2567	c.2279C>A	c.(2278-2280)tCt>tAt	p.S760Y	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.S760Y|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	760						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCTGTTCACTCTTGCTGCCCC	0.592000													33	78					1.45844e-13	1.55036e-13	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20112410	20112410	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:20112410C>T	ENST00000381569.1	-	2	640	c.283G>A	c.(283-285)Ggg>Agg	p.G95R	LZTS1_ENST00000522290.1_Missense_Mutation_p.G95R|LZTS1_ENST00000265801.6_Missense_Mutation_p.G95R			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	95					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AAGTCCACCCCAGCCTGGCCC	0.587000													17	27					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													5	17					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125176	226125176	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:226125176C>T	ENST00000366820.5	-	4	1414	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	LEFTY2_ENST00000420304.2_Missense_Mutation_p.D322N|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	356					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			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)					AGCGCCCCATCCGAGGCACAG	0.602000													21	86					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106224144	106224144	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:106224144C>T	ENST00000355610.4	-	7	1187	c.913G>A	c.(913-915)Gat>Aat	p.D305N	MORC4_ENST00000255495.7_Missense_Mutation_p.D305N|MORC4_ENST00000535534.1_Missense_Mutation_p.D53N	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	305							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTATATGTATCATATTCTACA	0.378000													15	19					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62648798	62648798	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62648798C>G	ENST00000377892.1	+	5	923	c.699C>G	c.(697-699)gtC>gtG	p.V233V	SLC3A2_ENST00000535296.1_Silent_p.V171V|SLC3A2_ENST00000377889.2_Silent_p.V140V|SLC3A2_ENST00000338663.7_Silent_p.V101V|SLC3A2_ENST00000377890.2_Silent_p.V202V|SLC3A2_ENST00000377891.2_Silent_p.V203V			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	202					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTGCCGTGGTCATAATCGTGC	0.687000											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104604	26104604	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:26104604G>A	ENST00000374332.4	+	9	1596	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	MAN1C1_ENST00000263979.3_Silent_p.E242E|MAN1C1_ENST00000374329.1_Silent_p.E193E	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	422					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGGCGATAGAGACCTACTTGC	0.592000													18	38					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101554532	101554532	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:101554532C>T	ENST00000284395.5	+	12	1822	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	LRRK1_ENST00000388948.3_Silent_p.F477F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	477					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F450F(1)|p.F477F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTCATGTTCTTGAGGTTAC	0.537000													44	99					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109472462	109472462	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:109472462G>A	ENST00000406462.2	+	16	2728	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	GPSM2_ENST00000264126.3_Missense_Mutation_p.R652K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_3'UTR|CLCC1_ENST00000369971.2_3'UTR|CLCC1_ENST00000415331.1_3'UTR|CLCC1_ENST00000356970.2_3'UTR|CLCC1_ENST00000369969.2_3'UTR			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTTTACAAAGAGATCAAAAC	0.398000													9	25					0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52186130	52186130	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:52186130G>A	ENST00000308580.7	+	6	896	c.615G>A	c.(613-615)ttG>ttA	p.L205L	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Silent_p.L205L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	205						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGTTAATTTGAATAATATAA	0.353000													23	46					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96192268	96192268	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:96192268C>G	ENST00000324765.8	+	11	1473	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q372E|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q376E|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q376E|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q376E			O60879	DIAP2_HUMAN	diaphanous-related formin 2	376	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCTTGATATTCAGTTGAAAGT	0.303000													7	4					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858903	38858903	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:38858903G>C	ENST00000339659.4	+	5	2094	c.624G>C	c.(622-624)atG>atC	p.M208I	DYRK1A_ENST00000451934.1_Missense_Mutation_p.M217I|DYRK1A_ENST00000398956.2_Missense_Mutation_p.M217I|DYRK1A_ENST00000321219.8_Missense_Mutation_p.M217I|DYRK1A_ENST00000398960.2_Missense_Mutation_p.M217I|DYRK1A_ENST00000338785.3_Missense_Mutation_p.M217I	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACACTGAAATGAAATACTACA	0.368000													11	22					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804495	21804495	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:21804495G>C	ENST00000449193.2	-	4	4509	c.2257C>G	c.(2257-2259)Caa>Gaa	p.Q753E	SKIDA1_ENST00000444772.3_Missense_Mutation_p.Q674E	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.Q753E(2)									CCCTGACTTTGAGCCAGTGGA	0.453000													55	157					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155153580	155153580	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:155153580C>T	ENST00000367178.3	+	20	3443	c.2867C>T	c.(2866-2868)tCg>tTg	p.S956L	SCAF8_ENST00000417268.1_Missense_Mutation_p.S956L|SCAF8_ENST00000367186.4_Missense_Mutation_p.S1022L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	956	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCACCCCCATCGGTACTTGAT	0.493000													77	101					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857895	111857895	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:111857895C>T	ENST00000369740.1	+	6	421	c.318C>T	c.(316-318)ttC>ttT	p.F106F	CHIA_ENST00000343320.6_Silent_p.F106F|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	106					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CCCTCAGTTTCACTGCCATGG	0.512000													50	175					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135649	156135649	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:156135649C>T	ENST00000329476.3	+	2	1047	c.558C>T	c.(556-558)ttC>ttT	p.F186F	NPY2R_ENST00000506608.1_Silent_p.F186F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	186					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGCCATCTTCCGGGAGTATT	0.527000													29	38					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3150277	3150277	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:3150277G>A	ENST00000263650.7	-	2	261	c.102C>T	c.(100-102)ctC>ctT	p.L34L	OSBPL5_ENST00000389989.3_Silent_p.L34L|OSBPL5_ENST00000542243.1_5'UTR|OSBPL5_ENST00000348039.5_Silent_p.L34L	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	34					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTCTCCGCTGAGGAGCAAGT	0.672000													7	10					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40319677	40319677	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:40319677C>G	ENST00000316891.5	-	3	393	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127Q|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127Q	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	127					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCAGAGATTCAATGTAATAA	0.358000													9	38					0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152981031	152981031	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:152981031G>C	ENST00000458587.2	-	4	937	c.508C>G	c.(508-510)Ctc>Gtc	p.L170V	BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.L103V|BCAP31_ENST00000345046.6_Missense_Mutation_p.L103V	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	103					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAATGTAGAGATTCCTCTGG	0.542000													57	33					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6412143	6412143	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:6412143G>A	ENST00000342245.4	+	1	483	c.315G>A	c.(313-315)ctG>ctA	p.L105L	SMPD1_ENST00000527275.1_Silent_p.L105L|SMPD1_ENST00000356761.2_Silent_p.L105L|SMPD1_ENST00000299397.3_Silent_p.L105L|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	103	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	ACCTCGGGCTGAAGGTGAGCA	0.617000													18	37					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641452	36641452	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:36641452G>C	ENST00000373448.2	-	3	1005	c.767C>G	c.(766-768)tCa>tGa	p.S256*	TTI1_ENST00000449821.1_Nonsense_Mutation_p.S256*|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Nonsense_Mutation_p.S256*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	256							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTGGACCTTTGAGATTCTTTT	0.428000													36	90					0	0	1	0	0
FBXO6	26270	broad.mit.edu	37	1	11728998	11728998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:11728998G>T	ENST00000376753.4	+	2	418	c.283G>T	c.(283-285)Gaa>Taa	p.E95*		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	95	FBA.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	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;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGTGTGCTGAAGGTGGCAT	0.582000													25	48					7.92952e-12	8.34405e-12	1	1	0
PDPR	55066	broad.mit.edu	37	16	70172862	70172862	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:70172862G>C	ENST00000288050.4	+	11	2208	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.L317L|PDPR_ENST00000568530.1_Silent_p.L417L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	417					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AATTGGACCTGAAACGTTTTG	0.522000													5	29					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67890862	67890862	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:67890862C>A	ENST00000370994.4	-	3	623	c.509G>T	c.(508-510)aGa>aTa	p.R170I	SERBP1_ENST00000370990.5_Missense_Mutation_p.R170I|SERBP1_ENST00000370995.2_Missense_Mutation_p.R170I|SERBP1_ENST00000361219.6_Missense_Mutation_p.R170I	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	170					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CCCTCGACCTCTTCCAAGACC	0.438000													18	32					3.5997e-14	3.8364e-14	1	1	0
TPM1	7168	broad.mit.edu	37	15	63354438	63354438	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:63354438G>C	ENST00000357980.4	+	8	869	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	TPM1_ENST00000560445.1_Intron|TPM1_ENST00000560959.1_Missense_Mutation_p.E186Q|TPM1_ENST00000559397.1_Missense_Mutation_p.E222Q|TPM1_ENST00000317516.7_Missense_Mutation_p.E186Q|TPM1_ENST00000559556.1_Missense_Mutation_p.E222Q|TPM1_ENST00000559281.1_Missense_Mutation_p.E186Q|TPM1_ENST00000267996.7_Missense_Mutation_p.E222Q|TPM1_ENST00000358278.3_Missense_Mutation_p.E222Q|TPM1_ENST00000288398.6_Missense_Mutation_p.E222Q|TPM1_ENST00000334895.5_Missense_Mutation_p.E186Q|TPM1_ENST00000404484.4_Missense_Mutation_p.E186Q|TPM1_ENST00000403994.3_Missense_Mutation_p.E222Q			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	222					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AGACAGATATGAGGAAGAGAT	0.438000													23	62					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52585461	52585461	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:52585461C>G	ENST00000242839.4	-	1	169	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	ATP7B_ENST00000418097.2_Missense_Mutation_p.E5Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.E5Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.E5Q|ATP7B_ENST00000448424.2_Missense_Mutation_p.E5Q|ATP7B_ENST00000400370.3_Missense_Mutation_p.E5Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATCTGTCTCTCCTGCTCAGGC	0.592000									Wilson disease				23	37					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76134792	76134792	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:76134792C>G	ENST00000324432.5	+	12	2253	c.1743C>G	c.(1741-1743)atC>atG	p.I581M	DTX2_ENST00000446600.1_Missense_Mutation_p.I490M|DTX2_ENST00000413936.2_Missense_Mutation_p.I581M|DTX2_ENST00000446820.2_Missense_Mutation_p.I534M|DTX2_ENST00000430490.2_Missense_Mutation_p.I581M|DTX2_ENST00000307569.8_Missense_Mutation_p.I534M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	581					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGAACGAGATCCACCACAAGA	0.612000													3	23					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412894	124412894	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:124412894G>A	ENST00000306842.2	-	1	681	c.657C>T	c.(655-657)ctC>ctT	p.L219L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGGAGAGGATGAGGGCATAAG	0.433000													18	28					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22906904	22906904	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:22906904G>A	ENST00000400546.1	+	17	2578	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	NCAM2_ENST00000284894.7_Missense_Mutation_p.E635K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	777					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AACAGAGGATGAAAGAGTTAC	0.398000													7	31					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895030	77895030	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:77895030G>C	ENST00000262198.4	+	4	2189	c.1734G>C	c.(1732-1734)gtG>gtC	p.V578V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	578					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCTGCCTGTGAATCAGCCAG	0.542000													28	79					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128865027	128865027	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:128865027G>C	ENST00000296468.3	-	5	446	c.319C>G	c.(319-321)Ctt>Gtt	p.L107V	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.L62V|MFSD8_ENST00000541133.1_Missense_Mutation_p.L62V	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	107					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAGACAATAAGAGGCTCTTTT	0.413000													17	39					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43428917	43428917	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:43428917C>G	ENST00000039989.4	+	15	1868	c.1854C>G	c.(1852-1854)atC>atG	p.I618M	TTC17_ENST00000299240.6_Missense_Mutation_p.I618M|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	618							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATGCTCCTATCTGGCTCATAC	0.353000													5	9					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109321781	109321781	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:109321781C>G	ENST00000436639.2	-	4	1387	c.642G>C	c.(640-642)gaG>gaC	p.E214D	SESN1_ENST00000302071.2_Missense_Mutation_p.E89D|SESN1_ENST00000356644.7_Missense_Mutation_p.E155D	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	155					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GAGGAGCATTCTCTAAACCAT	0.438000													23	43					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047081	156047081	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156047081C>T	ENST00000532414.2	-	2	846	c.847G>A	c.(847-849)Gag>Aag	p.E283K	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	283	KH 2.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GTCTCGATCTCCTCGCGCGCA	0.607000													11	45					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110834208	110834208	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:110834208C>G	ENST00000455511.3	-	2	253	c.253G>C	c.(253-255)Gat>Cat	p.D85H	ANAPC7_ENST00000450008.2_Missense_Mutation_p.D85H|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AAGAGAGAATCTGCATGATAC	0.388000													10	21					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278845	278845	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:278845G>A	ENST00000382352.3	+	1	1109	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	206							nucleic acid binding|zinc ion binding			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)			CGGTCATCCAGATCCCGGGCA	0.652000													14	41					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55034828	55034828	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:55034828C>T	ENST00000505374.1	+	2	129	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.H13Y|DDX4_ENST00000353507.5_Missense_Mutation_p.H13Y|DDX4_ENST00000354991.5_Missense_Mutation_p.H13Y	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	13					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			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)				AATCAACCCTCATATGTCTTC	0.323000													5	19					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148489832	148489832	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:148489832G>A	ENST00000325222.4	+	17	2100	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	CUL1_ENST00000602748.1_Silent_p.Q607Q|CUL1_ENST00000409469.1_Silent_p.Q607Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	607					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CGACATTCCAGATGGCTATCC	0.448000													9	10					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509812	125509812	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:125509812A>G	ENST00000341446.8	+	3	683	c.592A>G	c.(592-594)Acc>Gcc	p.T198A		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	198						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CTACTTCATGACCGGGCCCAT	0.632000													21	48					0	0	1	0	0
IGIP	492311	broad.mit.edu	37	5	139508082	139508082	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:139508082G>A	ENST00000333305.3	+	1	2562	c.21G>A	c.(19-21)atG>atA	p.M7I		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	7						extracellular region											ATTATCACATGAAGAAACGCA	0.358000													22	15					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9538374	9538374	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:9538374C>T	ENST00000378429.3	-	8	2170	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	PAK7_ENST00000378423.1_Missense_Mutation_p.E542K|PAK7_ENST00000353224.5_Missense_Mutation_p.E542K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	542	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTTCTTCATTCATTCTG	0.413000													27	51					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514392	123514392	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:123514392C>G	ENST00000422452.2	-	32	8256	c.8193G>C	c.(8191-8193)agG>agC	p.R2731S	TENM1_ENST00000371130.3_Missense_Mutation_p.R2724S|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTGTTACCTCCTGCCTATTT	0.353000													17	16					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119456230	119456230	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:119456230G>C	ENST00000273390.5	+	11	1439	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		TGGATAAGAAGAATAAAGTTC	0.348000													23	43					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661406	176661406	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:176661406C>T	ENST00000367662.3	+	6	3740	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	859					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						ACCAACAAGTCCCTCACTATC	0.507000													49	146					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676026	73676026	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:73676026C>T	ENST00000264448.6	+	8	2480	c.2369C>T	c.(2368-2370)tCa>tTa	p.S790L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S790L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S748L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	790	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGAAAGTTTCAGCTGTTGCT	0.473000													57	134					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714125	43714125	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:43714125C>T	ENST00000263801.3	-	19	4265	c.4013G>A	c.(4012-4014)aGa>aAa	p.R1338K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1343K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1343K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1343K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1338					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTTTTCCCTCTGAGTGGTCC	0.567000								Other conserved DNA damage response genes					19	45					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083891	42083891	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:42083891C>G	ENST00000187608.9	+	2	444	c.404C>G	c.(403-405)tCt>tGt	p.S135C	CEACAM21_ENST00000401445.2_Missense_Mutation_p.S135C|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	135						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAACAGGCATCTCACCATCTC	0.522000													19	60					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286151	62286151	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62286151C>T	ENST00000378024.4	-	5	16012	c.15738G>A	c.(15736-15738)gtG>gtA	p.V5246V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5246					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTCCATTTTCACACCTGGGA	0.537000													46	89					0	0	1	0	0
C10orf62	414157	broad.mit.edu	37	10	99350129	99350129	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:99350129G>A	ENST00000370640.3	+	1	680	c.475G>A	c.(475-477)Gag>Aag	p.E159K	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	159							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGGTCACCTAGAGTCCAAGGA	0.587000													29	68					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44127308	44127308	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:44127308C>T	ENST00000263795.6	+	3	582	c.512C>T	c.(511-513)tCa>tTa	p.S171L	WDR76_ENST00000381246.2_Missense_Mutation_p.S107L	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	171										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AAGAACATATCAGAAAACGCA	0.398000													12	38					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919953	58919953	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:58919953G>C	ENST00000528737.1	+	5	3630	c.812G>C	c.(811-813)aGa>aCa	p.R271T	FAM111A_ENST00000531147.1_Missense_Mutation_p.R271T|FAM111A_ENST00000420244.1_Missense_Mutation_p.R271T|FAM111A_ENST00000533703.1_Missense_Mutation_p.R271T|FAM111A_ENST00000361723.3_Missense_Mutation_p.R271T			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	271					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GTTGAGAAAAGAATGGTCCCC	0.428000													18	56					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73800873	73800873	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:73800873G>C	ENST00000223398.6	+	12	2829	c.2502G>C	c.(2500-2502)aaG>aaC	p.K834N	CLIP2_ENST00000395060.1_Missense_Mutation_p.K834N|CLIP2_ENST00000361545.5_Missense_Mutation_p.K799N	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	834						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCTGAACAAGAGGGACAAAG	0.602000													22	36					0	0	1	0	0
VAMP5	10791	broad.mit.edu	37	2	85818940	85818940	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:85818940G>C	ENST00000306384.4	+	2	179	c.96G>C	c.(94-96)gtG>gtC	p.V32V		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	32	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						AGCGTGGTGTGAAGCTGGCCG	0.582000													60	150					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133960999	133960999	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:133960999G>A	ENST00000361069.4	+	25	4252	c.4119G>A	c.(4117-4119)acG>acA	p.T1373T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1373	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGCAGACACGAGAAAGAAGA	0.592000													27	62					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724886	49724886	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:49724886C>T	ENST00000551245.1	+	13	2369	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGCTGCACTTCCAGCCCTGTG	0.602000													4	4					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45481968	45481968	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:45481968G>C	ENST00000331493.2	+	20	2613	c.2202G>C	c.(2200-2202)ttG>ttC	p.L734F	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L638F	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TGAGGGCTTTGAGGGACACCC	0.358000													8	24					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2217020	2217020	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:2217020G>C	ENST00000398665.3	+	21	2511	c.2475G>C	c.(2473-2475)ctG>ctC	p.L825L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	825						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGAAGCTGAGCCCTCAGG	0.667000													19	64					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121056	38121056	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:38121056T>A	ENST00000395867.3	-	6	1777	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.E409D	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATTCAGTACATTCATAGGGCT	0.438000													34	82					0	0	1	0	0
EIF2S1	1965	broad.mit.edu	37	14	67849196	67849196	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:67849196G>C	ENST00000256383.4	+	7	1172	c.711G>C	c.(709-711)atG>atC	p.M237I	EIF2S1_ENST00000466499.2_Missense_Mutation_p.M237I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	237						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GGTATGTAATGACTACGACAA	0.398000													17	39					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941064	153941064	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:153941064G>C	ENST00000368607.3	+	2	329	c.63G>C	c.(61-63)tcG>tcC	p.S21S	CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368601.1_Silent_p.S21S|CREB3L4_ENST00000368600.3_Silent_p.S21S|CREB3L4_ENST00000271889.4_Silent_p.S21S|CREB3L4_ENST00000368603.1_Silent_p.S21S	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	21					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATCTTCTCGACAGGATCCG	0.622000													24	74					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091090	143091090	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:143091090C>G	ENST00000367603.2	-	5	5528	c.4786G>C	c.(4786-4788)Gag>Cag	p.E1596Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1596Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.E1596Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCTTCCTCTTCCAGCTGA	0.542000													37	85					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540255	187540255	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:187540255G>A	ENST00000441802.2	-	10	7694	c.7485C>T	c.(7483-7485)aaC>aaT	p.N2495N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2495	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCATATTCGTTCTGAAGGA	0.443000										HNSCC(5;0.00058)			8	144					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832741	113832741	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:113832741G>A	ENST00000393197.2	+	4	680	c.259G>A	c.(259-261)Gag>Aag	p.E87K	IL1F10_ENST00000337569.3_Missense_Mutation_p.E87K|IL1F10_ENST00000341010.2_Missense_Mutation_p.E87K	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	87						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TGTGAACATTGAGGAACTGTA	0.582000													112	290					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025459	91025459	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:91025459G>A	ENST00000268182.5	+	28	3625	c.3501G>A	c.(3499-3501)ctG>ctA	p.L1167L	IQGAP1_ENST00000560738.1_Silent_p.L595L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1167	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAAAGTGCTGAAGGACTCGT	0.517000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	70					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300254	101300254	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:101300254G>A	ENST00000519449.1	-	3	465	c.149C>T	c.(148-150)tCt>tTt	p.S50F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S50F	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	50					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CAAGCTCACAGATGAAGCAGA	0.408000													13	25					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878025	44878025	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:44878025C>G	ENST00000355387.2	+	2	706	c.256C>G	c.(256-258)Cgt>Ggt	p.R86G	RNF220_ENST00000361799.2_Missense_Mutation_p.R86G|RNF220_ENST00000372247.2_Missense_Mutation_p.R86G			Q5VTB9	RN220_HUMAN	ring finger protein 220	86					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTTTGCCAATCGTGATTTCCC	0.507000													127	240					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116135890	116135890	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:116135890G>A	ENST00000238379.5	-	2	1642	c.745C>T	c.(745-747)Cca>Tca	p.P249S	HDHD3_ENST00000374180.3_Missense_Mutation_p.P249S	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	249							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CAAAGCCCTGGAGTTGAGCCC	0.582000													45	75					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123171648	123171648	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:123171648G>C	ENST00000264501.4	+	37	6215	c.5842G>C	c.(5842-5844)Gat>Cat	p.D1948H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1948H|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1948H			Q2LD37	K1109_HUMAN	KIAA1109	1948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				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						CTATAATACTGATGTCTCTGA	0.413000													12	65					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141526643	141526643	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:141526643C>G	ENST00000264952.2	+	3	1344	c.1207C>G	c.(1207-1209)Ctg>Gtg	p.L403V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	403	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TAAAGAGGATCTGAAGCAAAG	0.428000													24	36					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56334695	56334695	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:56334695C>T	ENST00000370754.5	-	97	22443	c.22444G>A	c.(22444-22446)Gat>Aat	p.D7482N	DST_ENST00000421834.2_Missense_Mutation_p.D5189N|DST_ENST00000446842.2_Missense_Mutation_p.D6978N|DST_ENST00000361203.3_Missense_Mutation_p.D7193N|DST_ENST00000370788.2_Missense_Mutation_p.D5107N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D7304N|DST_ENST00000244364.6_Missense_Mutation_p.D4890N			Q03001	DYST_HUMAN	dystonin	7302					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTTATTATCACCAATCTGC	0.328000													15	44					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33997443	33997443	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:33997443C>T	ENST00000382068.3	-	4	767	c.759G>A	c.(757-759)atG>atA	p.M253I	RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382085.3_Intron|AMACR_ENST00000426255.2_3'UTR|AMACR_ENST00000502637.1_Intron|AMACR_ENST00000335606.6_Intron|AMACR_ENST00000512079.1_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382072.2_Intron			Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AATTTTTAATCATCATTGGCT	0.448000											OREG0016555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	91					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149498955	149498955	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:149498955G>A	ENST00000378016.2	+	0	7407							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)			CGAGCCAGCTGAGCTGTGGCA	0.657000													14	29					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201752843	201752843	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:201752843G>A	ENST00000367296.4	+	7	3087	c.2667G>A	c.(2665-2667)caG>caA	p.Q889Q	NAV1_ENST00000367297.4_Silent_p.Q889Q|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Silent_p.Q902Q|NAV1_ENST00000367300.3_Silent_p.Q889Q|NAV1_ENST00000295624.6_Silent_p.Q889Q|NAV1_ENST00000367295.1_Silent_p.Q498Q|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	889					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCTCCAGATGCCAATGA	0.602000													21	57					0	0	1	0	0
NDUFA13	51079	broad.mit.edu	37	19	19626987	19626987	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:19626987C>T	ENST00000252576.5	+	1	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L	NDUFA13_ENST00000507754.4_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCGCCACACTCATCATGGCGG	0.632000													18	34					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183206524	183206524	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:183206524C>T	ENST00000264144.4	+	18	2704	c.2639C>T	c.(2638-2640)tCa>tTa	p.S880L	LAMC2_ENST00000493293.1_Missense_Mutation_p.S880L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	880	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAGCGGATTCACTCTCAAGC	0.463000													10	32					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584544	189584544	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:189584544C>T	ENST00000264731.3	+	6	929	c.840C>T	c.(838-840)atC>atT	p.I280I	TP63_ENST00000392461.3_Silent_p.I186I|TP63_ENST00000456148.1_Silent_p.I186I|TP63_ENST00000392463.2_Silent_p.I186I|TP63_ENST00000320472.5_Silent_p.I280I|TP63_ENST00000354600.5_Silent_p.I186I|TP63_ENST00000392460.3_Silent_p.I280I|TP63_ENST00000418709.2_Silent_p.I280I|TP63_ENST00000382063.4_Silent_p.I195I|TP63_ENST00000449992.1_Silent_p.I101I|TP63_ENST00000440651.2_Silent_p.I280I|TP63_ENST00000437221.1_Silent_p.I186I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	280					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			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)		AAGATCCCATCACAGGAAGAC	0.453000										HNSCC(45;0.13)			15	54					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619567	8619567	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:8619567C>T	ENST00000338257.8	-	3	469	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	68	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCTCACGGTCGGTGAAGTAG	0.617000													24	79					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68506253	68506253	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:68506253C>G	ENST00000443940.2	-	5	841	c.755G>C	c.(754-756)tGa>tCa	p.*252S	MTL5_ENST00000255087.5_Missense_Mutation_p.E278Q|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.E278Q			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	0					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			AAGGCTCCCTCAAGCTGTTCA	0.438000													13	37					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196276	42196276	+	Missense_Mutation	SNP	C	C	T	rs139388497		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:42196276C>T	ENST00000541110.1	-	18	4038	c.3470G>A	c.(3469-3471)gGg>gAg	p.G1157E	TRERF1_ENST00000354325.2_Missense_Mutation_p.G1054E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G1066E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G1066E|TRERF1_ENST00000372922.4_Missense_Mutation_p.G1137E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1137	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCACGGGCCCCGTAGTCCT	0.597000													101	299					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127999230	127999230	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:127999230C>T	ENST00000324460.6	-	8	1809	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	536					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCGATTTCTTCAGGTGTCAGG	0.418000										Prostate(1;0.17)			40	111					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128392778	128392778	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:128392778G>C	ENST00000389524.4	+	42	5775	c.5722G>C	c.(5722-5724)Gac>Cac	p.D1908H	MYO7B_ENST00000428314.1_Missense_Mutation_p.D1907H|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1907H|MYO7B_ENST00000409090.1_Missense_Mutation_p.D760H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1907	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		TGTGAATGCAGACACCATACT	0.607000													7	22					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123301432	123301432	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:123301432C>T	ENST00000349780.4	-	6	573	c.394G>A	c.(394-396)Gag>Aag	p.E132K	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E132K|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E132K|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E132K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	132					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			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						GCTAAGCTCTCAACTGCTTTG	0.463000													24	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			15	51					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59999837	59999837	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:59999837C>T	ENST00000468189.1	-	6	515	c.145G>A	c.(145-147)Gac>Aac	p.D49N	FHIT_ENST00000466788.1_Intron|FHIT_ENST00000476844.1_Missense_Mutation_p.D49N|FHIT_ENST00000341848.4_Missense_Mutation_p.D49N|FHIT_ENST00000492590.1_Missense_Mutation_p.D49N			P49789	FHIT_HUMAN	fragile histidine triad	49	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GGACGCAGGTCATGGAAGCGC	0.537000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				21	58					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872496	36872496	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:36872496C>T	ENST00000301807.6	-	21	8693	c.6796G>A	c.(6796-6798)Gag>Aag	p.E2266K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E2266K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E2816K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2816					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACACTTTGCTCGATGTCCTGC	0.542000													55	160					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9546908	9546908	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:9546908C>T	ENST00000396602.2	+	15	1927	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	ZNF143_ENST00000530463.1_Missense_Mutation_p.S602F|ZNF143_ENST00000396597.3_Missense_Mutation_p.S572F|ZNF143_ENST00000396604.1_Missense_Mutation_p.S602F|ZNF143_ENST00000299606.2_Missense_Mutation_p.S575F	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	603					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GTAGCAACATCCAATGGCACC	0.493000													18	64					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406649	138406649	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:138406649C>T	ENST00000310018.2	-	19	2414	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G711E|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G711E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	711					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.G711A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TACCTCTTCTCCATGGTCGTC	0.552000													16	30					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56657184	56657184	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:56657184G>C	ENST00000431842.2	-	17	4507	c.3583C>G	c.(3583-3585)Caa>Gaa	p.Q1195E	FAM208A_ENST00000355628.5_Missense_Mutation_p.Q1571E|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000485156.1_5'UTR	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1632										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						TCATTTTCTTGAGACTGACTT	0.378000													20	48					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152470907	152470907	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:152470907C>T	ENST00000427231.2	-	77	11686	c.11484G>A	c.(11482-11484)aaG>aaA	p.K3828K	NEB_ENST00000409198.1_Silent_p.K3585K|NEB_ENST00000603639.1_Silent_p.K3828K|NEB_ENST00000172853.10_Silent_p.K3585K|NEB_ENST00000397345.3_Silent_p.K3828K|NEB_ENST00000604864.1_Silent_p.K3828K	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3828					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			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)		TCTGACACTTCTTGGCCAGCA	0.532000													80	182					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172643277	172643277	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:172643277G>C	ENST00000351008.3	-	7	1270	c.1087C>G	c.(1087-1089)Caa>Gaa	p.Q363E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	363					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			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)			TGGAGTGCTTGAAGATCTGAA	0.378000													17	43					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8637884	8637884	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:8637884C>T	ENST00000378641.3	+	8	1123	c.648C>T	c.(646-648)ctC>ctT	p.L216L	PLCB1_ENST00000338037.6_Silent_p.L216L|PLCB1_ENST00000378637.2_Silent_p.L216L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	216				L -> F (in Ref. 2; AAF86613).	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			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						GAGTTTTCCTCAACAACCTTT	0.383000													23	74					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916433	86916433	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:86916433G>A	ENST00000395184.1	+	9	2092	c.1626G>A	c.(1624-1626)atG>atA	p.M542I	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.M449I|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.M447I	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	542					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TCTCCATGATGAACCTTGATG	0.488000													15	56					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269598	65269598	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:65269598G>C	ENST00000534336.1	+	0	4366					NR_002819.2																						GTCATAATTTGATACTGTATC	0.418000													7	38					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3039437	3039437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:3039437G>C	ENST00000448120.2	+	5	469	c.418G>C	c.(418-420)Gat>Cat	p.D140H	TULP3_ENST00000397132.2_Missense_Mutation_p.D140H	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	140					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGAACTTCGATGAGGAGAC	0.373000													4	12					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18021897	18021897	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:18021897G>A	ENST00000400573.5	+	16	2006	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	CECR2_ENST00000400585.2_Missense_Mutation_p.E526K|CECR2_ENST00000262608.8_Missense_Mutation_p.E668K			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACACCAGAGGAGAAGCAAAT	0.552000													5	18					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91252589	91252589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:91252589G>A	ENST00000357056.2	-	2	326	c.205C>T	c.(205-207)Cga>Tga	p.R69*	TTC7B_ENST00000328459.6_Nonsense_Mutation_p.R69*			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	69							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TTGGGGCCTCGGGGACTGGCC	0.617000													6	83					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227504817	227504817	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:227504817C>A	ENST00000366769.3	-	1	1358	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.G23W|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.G23W|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.G23W|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.G23W|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.G23W|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.G23W	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	23					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAGCACTGCCCATTGGTCTGA	0.428000													23	44					4.26978e-12	4.49678e-12	1	1	0
RAB30	27314	broad.mit.edu	37	11	82693412	82693412	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:82693412C>T	ENST00000533486.1	-	6	691	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	RAB30_ENST00000534141.1_Missense_Mutation_p.E135K|RAB30_ENST00000260056.2_Missense_Mutation_p.R136Q|RAB30_ENST00000527633.1_Missense_Mutation_p.R136Q|RP11-659G9.3_ENST00000527550.1_RNA	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	136					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTTCAGCTCGCTGCTGGGA	0.428000													16	28					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133430034	133430034	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:133430034G>A	ENST00000266880.7	-	12	1454	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.S464F|CHFR_ENST00000537522.1_Missense_Mutation_p.S86F|CHFR_ENST00000315585.7_Missense_Mutation_p.S423F|CHFR_ENST00000450056.2_Missense_Mutation_p.S452F|CHFR_ENST00000443047.2_Missense_Mutation_p.S372F			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	464					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CAGGCTGACGGACGTGGAGGG	0.706000													4	12					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51981539	51981539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:51981539C>T	ENST00000220478.3	+	6	1067	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	222					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GACTGAGAATCAGGCTGGAAA	0.413000													7	22					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149238751	149238751	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:149238751C>T	ENST00000465804.1	-	8	1300	c.1044G>A	c.(1042-1044)atG>atA	p.M348I	WWTR1_ENST00000467467.1_Missense_Mutation_p.M348I|WWTR1_ENST00000360632.3_Missense_Mutation_p.M348I	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	348					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GATTGATGTTCATGGGTGTTT	0.413000			T	CAMTA1	epitheliod hemangioendothelioma								43	92					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70263227	70263227	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:70263227G>A	ENST00000346329.3	+	8	874	c.566G>A	c.(565-567)aGa>aAa	p.R189K	CTTN_ENST00000376561.3_Missense_Mutation_p.R189K|CTTN_ENST00000301843.8_Missense_Mutation_p.R189K	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	189						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GAGTCACAGAGAGGTGGGGCG	0.557000													32	52					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884718	28884718	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:28884718C>G	ENST00000375664.4	+	7	1141	c.532C>G	c.(532-534)Caa>Gaa	p.Q178E	WAC_ENST00000375646.1_Intron|WAC_ENST00000428935.1_Missense_Mutation_p.Q178E|WAC_ENST00000354911.4_Missense_Mutation_p.Q223E|WAC_ENST00000347934.4_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						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			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TATTTTGTCTCAAACAAGCAG	0.448000													21	50					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047336	156047336	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156047336C>T	ENST00000532414.2	-	2	591	c.592G>A	c.(592-594)Gag>Aag	p.E198K	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	198						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GAGAAGTGCTCCGCTGCTGAG	0.647000													6	16					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83984258	83984258	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:83984258C>G	ENST00000509093.1	+	7	1523	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	COPS4_ENST00000503682.1_Missense_Mutation_p.L249V|COPS4_ENST00000511653.1_Missense_Mutation_p.L249V|COPS4_ENST00000264389.2_Missense_Mutation_p.L249V	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	249	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GCTAGCTACTCTTTTTAAGGA	0.378000													12	30					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304375	47304375	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:47304375C>T	ENST00000342922.4	+	10	2074	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	MADD_ENST00000395344.3_Missense_Mutation_p.P573S|MADD_ENST00000402799.1_Missense_Mutation_p.P573S|MADD_ENST00000406482.1_Missense_Mutation_p.P573S|MADD_ENST00000402192.2_Missense_Mutation_p.P573S|MADD_ENST00000407859.3_Missense_Mutation_p.P573S|MADD_ENST00000349238.3_Missense_Mutation_p.P573S|MADD_ENST00000395336.3_Missense_Mutation_p.P573S|MADD_ENST00000311027.5_Missense_Mutation_p.P573S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	573					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			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)		TATGTTTGATCCAGCCCTGAT	0.488000													21	65					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120396	47120396	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:47120396C>G	ENST00000298283.3	-	1	632	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	182					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ACCATGTCTTCAAATTCGTCA	0.517000													36	71					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223116204	223116204	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:223116204G>A	ENST00000284476.6	+	2	203	c.39G>A	c.(37-39)ctG>ctA	p.L13L	DISP1_ENST00000360254.2_Silent_p.L13L|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	13					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGTGGTTCTGAGCAACAGCA	0.493000													17	46					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222203	42222203	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:42222203C>G	ENST00000221992.6	+	6	1508	c.1394C>G	c.(1393-1395)tCc>tGc	p.S465C	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S464C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S465C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	465	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCTTTATCTCCAACATCACT	0.507000													21	52					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44219565	44219565	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:44219565G>A	ENST00000395673.3	+	9	1647	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EXT2_ENST00000533608.1_Missense_Mutation_p.E498K|EXT2_ENST00000343631.3_Missense_Mutation_p.E498K|EXT2_ENST00000358681.4_Missense_Mutation_p.E508K	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	498					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAACCCTCCAGAAGGTAAGAA	0.423000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				9	48					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20918864	20918864	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:20918864G>T	ENST00000263205.7	+	6	648	c.579G>T	c.(577-579)caG>caT	p.Q193H	MED15_ENST00000541476.1_Missense_Mutation_p.Q167H|MED15_ENST00000406969.1_Missense_Mutation_p.Q167H|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.Q193H|MED15_ENST00000425759.2_Missense_Mutation_p.Q82H|MED15_ENST00000382974.2_Missense_Mutation_p.Q122H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	193	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209)			aggctcagcagagtgccatgc	0.577000											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	12					1.61879e-10	1.68776e-10	1	1	0
MZF1	7593	broad.mit.edu	37	19	59073864	59073864	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:59073864C>T	ENST00000215057.2	-	6	2340	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	MZF1_ENST00000599369.1_Missense_Mutation_p.E594K|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	594					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AAGGGTTTCTCGCCCGTGTGT	0.672000													12	29					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386725	89386725	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:89386725C>T	ENST00000439576.2	+	6	1271	c.897C>T	c.(895-897)gcC>gcT	p.A299A	ACAN_ENST00000561243.1_Silent_p.A299A|ACAN_ENST00000558207.1_Silent_p.A299A|ACAN_ENST00000352105.7_Silent_p.A299A|ACAN_ENST00000559004.1_Silent_p.A299A	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	299					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGCAGCGCCGGCTGGCTGG	0.701000													12	26					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901455	160901455	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:160901455G>C	ENST00000283243.7	-	2	529	c.323C>G	c.(322-324)tCc>tGc	p.S108C	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S108C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	108	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AACGAGGGTGGAGTCACATTC	0.537000													17	35					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221053721	221053721	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:221053721C>T	ENST00000366903.6	+	1	2023	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	174					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAAAGACCTCAAATTTGGAA	0.627000													24	47					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96421237	96421237	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:96421237G>A	ENST00000228740.2	-	3	537	c.396C>T	c.(394-396)ctC>ctT	p.L132L	LTA4H_ENST00000413268.2_Silent_p.L108L|RP11-256L6.2_ENST00000547346.1_RNA|LTA4H_ENST00000552789.1_Silent_p.L108L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	132					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						ACTGACTAAAGAGATATGGGT	0.393000													9	32					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108725917	108725917	+	Missense_Mutation	SNP	C	C	T	rs138435095		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:108725917C>T	ENST00000232603.5	-	18	1808	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	576					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E576K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGTGATTTCGTCCACTGGT	0.363000													15	35					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47811696	47811696	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47811696G>A	ENST00000285106.6	-	6	1379	c.665C>T	c.(664-666)tCg>tTg	p.S222L	CXXC1_ENST00000589940.1_Splice_Site_p.S222L|CXXC1_ENST00000412036.2_Splice_Site_p.S222L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	222					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGGACTCACCGAGGAAGGGAA	0.672000													22	56					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193056	42193056	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:42193056C>T	ENST00000220325.4	-	6	1496	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	471	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCATCTCCTTCTTGGCGTTGA	0.577000													21	58					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	313399	313399	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:313399G>C	ENST00000399932.3	+	9	1561	c.1110G>C	c.(1108-1110)ctG>ctC	p.L370L	ITFG3_ENST00000301679.2_Silent_p.L370L|ITFG3_ENST00000442458.2_Silent_p.L370L|ITFG3_ENST00000301678.3_Silent_p.L370L|ITFG3_ENST00000450082.2_Silent_p.L370L|ITFG3_ENST00000600536.1_Silent_p.L370L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	370						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCCATGTCCTGAGGTACAGGG	0.677000													16	24					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42213644	42213644	+	Silent	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:42213644C>A	ENST00000373100.1	+	14	1552	c.1092C>A	c.(1090-1092)atC>atA	p.I364I	SGK2_ENST00000373077.1_Silent_p.I363I|SGK2_ENST00000341458.4_Silent_p.I424I|SGK2_ENST00000423407.3_Silent_p.I364I|SGK2_ENST00000373092.3_Silent_p.I364I|SGK2_ENST00000426287.1_Silent_p.I390I			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	424	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGATGACATCTTGGATTGCT	0.493000													29	47					2.20262e-25	2.3841e-25	1	1	0
MOCOS	55034	broad.mit.edu	37	18	33767631	33767631	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:33767631C>T	ENST00000261326.5	+	1	150	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	43					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CGCGCGAGTTCAGCCGCCTGG	0.711000													6	11					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52529474	52529474	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:52529474C>T	ENST00000321725.6	+	1	121	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	15					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGGCCTTCTGCCTGGCAG	0.692000													9	15					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128001074	128001074	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:128001074C>G	ENST00000324460.6	-	6	1232	c.1029G>C	c.(1027-1029)caG>caC	p.Q343H		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	343					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.Q343H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCAACACTTTCTGGACGGGCT	0.393000										Prostate(1;0.17)			25	42					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353579	165353579	+	Missense_Mutation	SNP	G	G	A	rs66485140		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:165353579G>A	ENST00000263915.3	-	12	1859	c.1321C>T	c.(1321-1323)Cac>Tac	p.H441Y	GRB14_ENST00000543549.1_Missense_Mutation_p.H354Y	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	441	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTTTGTGGTGAAACCATGGC	0.388000													15	34					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11060123	11060123	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:11060123G>A	ENST00000450189.1	+	1	231	c.71G>A	c.(70-72)aGa>aAa	p.R24K	CELF2_ENST00000416382.2_Intron|CELF2_ENST00000542579.1_Missense_Mutation_p.R24K|CELF2_ENST00000379261.4_Intron|CELF2_ENST00000417956.2_5'UTR|CELF2_ENST00000399850.3_5'UTR	NM_006561.3	NP_006552.3	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	0	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTTCCTGACAGAATGTGAGTG	0.726000													22	97					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29691953	29691953	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:29691953C>G	ENST00000376861.1	+	4	722	c.338C>G	c.(337-339)tCt>tGt	p.S113C	HLA-F_ENST00000259951.7_Missense_Mutation_p.S113C|HLA-F_ENST00000434407.2_Missense_Mutation_p.S113C|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000334668.4_Missense_Mutation_p.S113C			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	113	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CGGCTAGGGTCTCACACCCTC	0.652000													22	58					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67040706	67040706	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:67040706C>T	ENST00000340001.4	-	5	716	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	ABCA9_ENST00000495634.1_Missense_Mutation_p.E169K|ABCA9_ENST00000370732.2_Missense_Mutation_p.E169K|ABCA9_ENST00000453985.2_Missense_Mutation_p.E169K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	169					transport	integral to membrane	ATP binding|ATPase activity			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)					TCTGAACCTTCACACTTCATT	0.358000													5	25					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29937285	29937285	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:29937285G>A	ENST00000568000.1	-	1	1071	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	KCTD13_ENST00000561540.1_Missense_Mutation_p.L24F|KCTD13_ENST00000568721.1_5'UTR	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	24					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CCAGGCTCGAGACCCGAGGGC	0.721000													3	19					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33295665	33295665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:33295665C>T	ENST00000373475.5	+	5	1275	c.1021C>T	c.(1021-1023)Caa>Taa	p.Q341*	S100PBP_ENST00000398243.3_Nonsense_Mutation_p.Q340*|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.Q341*	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	341						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGACACTAACCAAGGTAACAT	0.403000													11	50					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954977	141954977	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:141954977C>T	ENST00000552471.1	-	3	653	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PRSS58_ENST00000547058.2_Missense_Mutation_p.E112K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	112	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TCATTGAGTTCAGCCTCTGTT	0.408000													33	80					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242726	4242726	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:4242726C>G	ENST00000399609.3	-	6	862	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	SRL_ENST00000537996.1_Missense_Mutation_p.E242Q	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	743	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CTTGGGGGCTCTGTGACATTG	0.537000													30	58					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18064645	18064645	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:18064645G>A	ENST00000205890.5	+	57	9739	c.9401G>A	c.(9400-9402)cGa>cAa	p.R3134Q	MYO15A_ENST00000418233.3_Missense_Mutation_p.R398Q|MYO15A_ENST00000451725.2_Missense_Mutation_p.R26Q	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3134	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGCCAGCGAGGCTGGAGG	0.607000													28	49					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54041916	54041916	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:54041916G>T	ENST00000373980.4	+	14	1966	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	PRKG1_ENST00000373985.1_Missense_Mutation_p.D490Y|PRKG1_ENST00000401604.2_Missense_Mutation_p.D502Y|PRKG1_ENST00000373975.2_Missense_Mutation_p.D220Y|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	502	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGTAAGGTTGATTTTGGCTT	0.333000													6	16					0.27861	0.279282	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113378828	113378828	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:113378828C>T	ENST00000316407.4	-	7	2111	c.1701G>A	c.(1699-1701)atG>atA	p.M567I	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.M567I	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	567					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTCTGCCCTCATCACTGTTG	0.473000													23	78					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815446	46815446	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:46815446G>A	ENST00000339613.2	+	7	886	c.631G>A	c.(631-633)Gat>Aat	p.D211N	HIF3A_ENST00000300862.3_Missense_Mutation_p.D265N|HIF3A_ENST00000472815.1_Missense_Mutation_p.D198N|HIF3A_ENST00000420102.2_Missense_Mutation_p.D216N|HIF3A_ENST00000600383.1_Missense_Mutation_p.D198N|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000377670.4_Missense_Mutation_p.D267N|HIF3A_ENST00000244303.6_Missense_Mutation_p.D198N			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTATAGTCCCGATGACCTGAT	0.592000													80	174					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934959	30934959	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:30934959G>T	ENST00000355537.3	+	2	637	c.490G>T	c.(490-492)Gac>Tac	p.D164Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					CCCGTACTGCGACCACAGGGC	0.662000													20	39					9.95505e-16	1.0646e-15	1	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132446	59132446	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:59132446C>T	ENST00000313940.2	+	1	562	c.515C>T	c.(514-516)tCt>tTt	p.S172F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTCTGTGGGTCTAATGTCATC	0.448000													38	66					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743320	16743320	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:16743320C>G	ENST00000381323.3	-	6	608	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	FAM49A_ENST00000406434.1_Missense_Mutation_p.E130Q|FAM49A_ENST00000355549.2_Missense_Mutation_p.E130Q	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	130						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCGGCAAACTCCTTTGCCAGG	0.418000													30	48					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144680316	144680316	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:144680316C>T	ENST00000321385.3	+	1	243	c.96C>T	c.(94-96)ttC>ttT	p.F32F	TIGD5_ENST00000504548.2_Silent_p.F81F			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	81					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCGCGACTTCGGCGTGCCGG	0.682000													6	24					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228403280	228403280	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:228403280G>A	ENST00000570156.2	+	6	1919	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	OBSCN_ENST00000284548.11_Silent_p.V615V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V615V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	615					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			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)				AGCTGGCCGTGAGGACACCGC	0.662000													4	5					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109459792	109459792	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:109459792G>A	ENST00000262844.5	-	3	820	c.653C>T	c.(652-654)tCt>tTt	p.S218F	AMMECR1_ENST00000372059.2_Missense_Mutation_p.S181F|AMMECR1_ENST00000372057.1_Missense_Mutation_p.S95F	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	218	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						AGTGAGCAGAGACACTGAGCA	0.383000													24	20					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42909686	42909686	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:42909686G>C	ENST00000244289.4	-	8	2669	c.2393C>G	c.(2392-2394)tCa>tGa	p.S798*	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	798					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTCTGGTCTGAGTTGGAGTG	0.582000													24	57					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124401033	124401033	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:124401033C>T	ENST00000409039.3	+	62	10423	c.10398C>T	c.(10396-10398)ctC>ctT	p.L3466L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3466	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		CTGACTTCCTCAAGCAGCTAG	0.463000													33	108					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71779077	71779077	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:71779077G>A	ENST00000299980.4	-	19	2410	c.1969C>T	c.(1969-1971)Ctt>Ttt	p.L657F	AP1G1_ENST00000433195.2_Missense_Mutation_p.L680F|AP1G1_ENST00000564155.1_Missense_Mutation_p.L82F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L660F|AP1G1_ENST00000569748.1_Missense_Mutation_p.L657F|AP1G1_ENST00000393512.3_Missense_Mutation_p.L660F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	657					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCAAATCAAGAAGTTCTCCA	0.438000													23	56					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27294537	27294537	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:27294537C>T	ENST00000376087.4	-	34	5280	c.5115G>A	c.(5113-5115)aaG>aaA	p.K1705K	ANKRD26_ENST00000376070.3_Silent_p.K1262K|ANKRD26_ENST00000436985.2_Silent_p.K1721K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1704						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATAATTTTTCTTTAAAACCT	0.284000													12	61					0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12848430	12848430	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:12848430G>A	ENST00000591090.1	+	2	213	c.111G>A	c.(109-111)ctG>ctA	p.L37L	ASNA1_ENST00000357332.3_Silent_p.L37L			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	37					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	AGCGCAGCCTGAAGTGGATCT	0.632000													11	40					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748005	151748005	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:151748005C>G	ENST00000368822.1	-	10	1930	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	TDRKH_ENST00000458431.2_Missense_Mutation_p.E433Q|TDRKH_ENST00000440583.2_Missense_Mutation_p.E209Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E433Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E429Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E388Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E433Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	433							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGCTTCCTCTTCCCACTGG	0.493000													32	66					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995397	120995397	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:120995397G>A	ENST00000325954.4	+	6	1340	c.879G>A	c.(877-879)acG>acA	p.T293T	RNF10_ENST00000413266.2_Silent_p.T293T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	293					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATACCATTACGATGCAGCTGA	0.453000													34	88					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85598547	85598547	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:85598547C>G	ENST00000294664.6	+	23	2722	c.2542C>G	c.(2542-2544)Cag>Gag	p.Q848E	WDR63_ENST00000370596.1_Missense_Mutation_p.Q809E|WDR63_ENST00000326813.8_Missense_Mutation_p.Q809E	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	848										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GAAAACATATCAGAAGTCAAA	0.373000													13	17					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99705605	99705605	+	Missense_Mutation	SNP	G	G	A	rs148566323		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:99705605G>A	ENST00000344095.4	-	14	2125	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	TAF6_ENST00000437822.2_Missense_Mutation_p.P571S|TAF6_ENST00000453269.2_Missense_Mutation_p.P534S|TAF6_ENST00000418432.2_Missense_Mutation_p.P458S|TAF6_ENST00000472509.1_Missense_Mutation_p.P591S|TAF6_ENST00000452041.1_Missense_Mutation_p.P534S|AP4M1_ENST00000421755.1_Intron	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	534					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGTTGGAGGAGGGGAAGGC	0.612000													24	28					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122660558	122660558	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:122660558G>A	ENST00000263461.6	+	21	2881	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	879						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGACTATCCAGAAAATGAAGA	0.299000													9	11					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31854508	31854508	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:31854508C>T	ENST00000397525.1	-	7	1139	c.916G>A	c.(916-918)Gac>Aac	p.D306N	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.D306N|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.D143N|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.D306N|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	306						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCATTAAAGTCAAAGTCTCCT	0.478000													17	38					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164724689	164724689	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:164724689C>T	ENST00000264382.3	-	37	4383	c.4321G>A	c.(4321-4323)Gag>Aag	p.E1441K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1441	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGAATCTGCTCAGCTTCCATG	0.348000										HNSCC(35;0.089)			10	11					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48818331	48818331	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:48818331G>A	ENST00000316623.5	-	9	1439	c.984C>T	c.(982-984)tgC>tgT	p.C328C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	328	EGF-like 5; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTACCTATGCATCTGGTAC	0.398000													17	49					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720733	146720733	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:146720733C>G	ENST00000392299.2	+	8	3028	c.2558C>G	c.(2557-2559)tCt>tGt	p.S853C	GRM1_ENST00000361719.2_Missense_Mutation_p.S853C|GRM1_ENST00000355289.4_Missense_Mutation_p.S853C|GRM1_ENST00000492807.2_Missense_Mutation_p.S853C|GRM1_ENST00000282753.1_Missense_Mutation_p.S853C|GRM1_ENST00000507907.1_Missense_Mutation_p.S853C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	853					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTCACCACCTCTGATGTTGTC	0.537000													14	30					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99993064	99993064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:99993064G>T	ENST00000289371.6	+	10	2009	c.1807G>T	c.(1807-1809)Gaa>Taa	p.E603*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GACTAAAGAAGAAAGGGCTTA	0.378000													29	80					1.22384e-17	1.31215e-17	1	1	0
ARNTL	406	broad.mit.edu	37	11	13398097	13398097	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:13398097G>C	ENST00000389708.3	+	16	1686	c.1331G>C	c.(1330-1332)aGa>aCa	p.R444T	ARNTL_ENST00000403482.3_Intron|ARNTL_ENST00000389707.4_Intron|ARNTL_ENST00000396441.3_Intron|ARNTL_ENST00000401424.1_Intron|ARNTL_ENST00000403510.3_Intron|ARNTL_ENST00000403290.1_Intron|ARNTL_ENST00000361003.4_Intron			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	444	PAC.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCCAGGTCCAGAGTGGACACC	0.512000													27	55					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113831924	113831924	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:113831924G>A	ENST00000393197.2	+	2	472	c.51G>A	c.(49-51)caG>caA	p.Q17Q	IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Silent_p.Q17Q	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	17						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						ATGCAGACCAGAAGGCTCTAT	0.527000													7	22					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962677	41962677	+	RNA	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:41962677G>C	ENST00000454645.1	-	0	827					NR_003670.1																						TGTCCATTTAGCTGCTGCATA	0.358000													10	15					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5994902	5994902	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:5994902C>T	ENST00000303657.5	-	18	2265	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	RFX2_ENST00000359161.3_Missense_Mutation_p.E706K|RFX2_ENST00000592546.1_Missense_Mutation_p.E681K|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACCAGGGGCTCACCCAGGCTG	0.677000													24	39					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469714	56469714	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:56469714G>A	ENST00000370754.5	-	39	9612	c.9613C>T	c.(9613-9615)Ctt>Ttt	p.L3205F	DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.L2701F|DST_ENST00000361203.3_Missense_Mutation_p.L3027F|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L3027F|DST_ENST00000370769.4_Missense_Mutation_p.L3027F|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	3027					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGTCATTAAGAGGTGAGTCT	0.373000													14	35					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385098	108385098	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:108385098G>C	ENST00000265843.4	-	6	1246	c.1136C>G	c.(1135-1137)tCt>tGt	p.S379C	EXPH5_ENST00000525344.1_Missense_Mutation_p.S372C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S303C|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.S191C	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	379					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTGTCTCTAGAGGAATCTGA	0.478000													38	115					0	0	1	0	0
C20orf166	128826	broad.mit.edu	37	20	61167741	61167741	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:61167741C>G	ENST00000370527.3	+	4	990	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	C20orf166_ENST00000370524.2_Missense_Mutation_p.Q53E|C20orf166_ENST00000370523.1_Missense_Mutation_p.Q53E	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	71										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			GGCATTCTCTCAGCCCCAGCC	0.507000													13	38					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050150	120050150	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:120050150G>C	ENST00000235547.6	+	2	196	c.57G>C	c.(55-57)caG>caC	p.Q19H	HSD3B1_ENST00000528909.1_Missense_Mutation_p.Q17H|HSD3B1_ENST00000369413.3_Missense_Mutation_p.Q17H	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	17					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTCTGGGACAGAGGATCATCC	0.527000													23	53					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111982701	111982701	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:111982701G>C	ENST00000361822.3	+	12	1399	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	424						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAACAAAATGAAAATGTTCC	0.363000													11	33					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13247726	13247726	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:13247726C>G	ENST00000319217.7	-	3	338	c.91G>C	c.(91-93)Gac>Cac	p.D31H	MPDZ_ENST00000381015.4_Missense_Mutation_p.D31H|MPDZ_ENST00000536827.1_Missense_Mutation_p.D31H|MPDZ_ENST00000541718.1_Missense_Mutation_p.D31H|MPDZ_ENST00000381022.2_Missense_Mutation_p.D31H|MPDZ_ENST00000447879.1_Missense_Mutation_p.D31H|MPDZ_ENST00000546205.1_Missense_Mutation_p.D31H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	31	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCAGTTTGTCTTCATTTGCT	0.498000													56	127					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142119370	142119370	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:142119370G>C	ENST00000264951.4	-	19	2240	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.S708*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	708					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AAGCACTGATGAAGCTACATT	0.363000													19	47					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098572	38098572	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:38098572C>G	ENST00000290399.6	+	6	1309	c.696C>G	c.(694-696)ttC>ttG	p.F232L	SIM2_ENST00000430056.3_Missense_Mutation_p.F232L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	232	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTAACATGTTCATGTTCAGGG	0.582000													20	33					0	0	1	0	0
COMMD9	29099	broad.mit.edu	37	11	36297690	36297690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:36297690C>A	ENST00000532705.1	-	4	429	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	COMMD9_ENST00000452374.2_Missense_Mutation_p.M109I|COMMD9_ENST00000263401.5_Missense_Mutation_p.M151I			Q9P000	COMD9_HUMAN	COMM domain containing 9	0	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AATGTACCTTCATCTGGAGCA	0.512000													19	25					1.33834e-09	1.39187e-09	1	1	0
DBF4	10926	broad.mit.edu	37	7	87530130	87530130	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:87530130G>A	ENST00000265728.1	+	10	1365	c.861G>A	c.(859-861)ttG>ttA	p.L287L		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	287					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.L287L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AACTCCAGTTGAAAGAGAAGA	0.353000													33	69					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226175824	226175824	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:226175824C>T	ENST00000272091.7	-	6	925	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCTTTGGACTCCCCCAGCTCA	0.498000													43	92					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111638003	111638003	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:111638003G>A	ENST00000431670.2	+	4	2215	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	PHLDB2_ENST00000481953.1_Missense_Mutation_p.E602K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E602K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E629K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E602K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E188K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	602						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAACAACCTCGAGGAACTTAA	0.403000													33	70					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156228889	156228889	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156228889G>T	ENST00000361813.5	-	16	2493	c.2349C>A	c.(2347-2349)atC>atA	p.I783I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	783					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGAACTGCAGGATGCTGCCTT	0.602000													17	62					2.35188e-11	2.46444e-11	1	1	0
RNF216	54476	broad.mit.edu	37	7	5769199	5769199	+	Missense_Mutation	SNP	G	G	C	rs144615363		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:5769199G>C	ENST00000425013.2	-	7	1306	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	RNF216_ENST00000389902.3_Missense_Mutation_p.S418C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	361					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGTCAATTTAGAATAGTCAAA	0.453000													19	38					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20909268	20909268	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:20909268G>A	ENST00000263205.7	+	5	353	c.284G>A	c.(283-285)gGa>gAa	p.G95E	MED15_ENST00000541476.1_Missense_Mutation_p.G69E|MED15_ENST00000406969.1_Missense_Mutation_p.G69E|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.G95E|MED15_ENST00000425759.2_Intron|MED15_ENST00000382974.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	95					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209)			CCTGCTGCGGGAGCCGCTGGA	0.617000													30	70					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262881	34262881	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:34262881C>T	ENST00000262622.4	+	4	946	c.188C>T	c.(187-189)tCc>tTc	p.S63F	CHST8_ENST00000434302.1_Missense_Mutation_p.S63F|CHST8_ENST00000438847.3_Missense_Mutation_p.S63F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGGCGGCTCCCAGGATGGT	0.627000													26	75					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87643506	87643506	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:87643506C>G	ENST00000436978.1	+	10	2007	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	PTPN13_ENST00000427191.2_Missense_Mutation_p.I509M|PTPN13_ENST00000511467.1_Missense_Mutation_p.I509M|PTPN13_ENST00000316707.6_Missense_Mutation_p.I509M|PTPN13_ENST00000411767.2_Missense_Mutation_p.I509M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	509						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGACACAATCAAAGCGTCCA	0.453000													15	122					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065107	15065107	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:15065107C>T	ENST00000430939.2	-	7	1141	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	SLC1A6_ENST00000600144.1_Missense_Mutation_p.E324K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E402K			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	402					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			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)	AGGCCCTCCTCCAGGCAGCGG	0.697000													34	80					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011453	40011453	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40011453C>T	ENST00000319121.3	-	2	726	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	222	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CAGCAGCCTTCAGAGCAAGTT	0.378000													25	46					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891376	6891376	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:6891376C>G	ENST00000307322.4	+	1	453	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L131M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCGTGCCAAACTGGCTGCTGC	0.527000													45	131					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740595	141740595	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:141740595G>A	ENST00000475668.2	+	21	2501	c.2447G>A	c.(2446-2448)cGa>cAa	p.R816Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R816Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	816	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R816P(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTCACCTTCGAGGAGGCTAC	0.473000													21	37					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822554	19822554	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:19822554G>A	ENST00000344099.3	-	4	1674	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTGAAAAACTGAAGGTTTTAC	0.398000													25	66					0	0	1	0	0
PDHB	5162	broad.mit.edu	37	3	58413871	58413871	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:58413871G>A	ENST00000302746.6	-	10	1012	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	PDHB_ENST00000485460.1_Missense_Mutation_p.R306C|PDHB_ENST00000474765.1_Missense_Mutation_p.S346L	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	324					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	CCAGTGACACGAACAGCAGGA	0.468000													18	36					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110889358	110889358	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:110889358C>T	ENST00000316534.4	-	17	1781	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	NPHP1_ENST00000417665.1_Missense_Mutation_p.E513K|NPHP1_ENST00000393272.3_Missense_Mutation_p.E569K|NPHP1_ENST00000445609.2_Missense_Mutation_p.E514K|NPHP1_ENST00000355301.4_Missense_Mutation_p.E451K			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	569					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATTAATGTTTCTGGCAGTAGA	0.313000													6	13					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34936330	34936330	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:34936330G>A	ENST00000382021.2	+	4	624	c.397G>A	c.(397-399)Gat>Aat	p.D133N	DNAJC21_ENST00000342382.4_Missense_Mutation_p.D133N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D133N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	133					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGAGGTTGATGATTTCCCAAC	0.318000													16	45					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033228	117033228	+	Silent	SNP	G	G	C	rs149902444	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:117033228G>C	ENST00000371876.1	-	6	3879	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	KLHL13_ENST00000545703.1_Silent_p.L495L|KLHL13_ENST00000540167.1_Silent_p.L521L|KLHL13_ENST00000371878.1_Silent_p.L486L|KLHL13_ENST00000262820.3_Silent_p.L537L|KLHL13_ENST00000469946.1_Silent_p.L486L|KLHL13_ENST00000371882.1_Silent_p.L486L|KLHL13_ENST00000541812.1_Silent_p.L521L|KLHL13_ENST00000539496.1_Silent_p.L540L			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	537					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				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						CAATGACATAGAGCCTTTCTC	0.463000													99	96					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083184	152083184	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:152083184C>T	ENST00000368804.1	-	2	2508	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	837					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTCCTCTTCCTCCAGG	0.677000													18	60					0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20716932	20716932	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:20716932C>T	ENST00000241125.3	-	2	672	c.496G>A	c.(496-498)Ggc>Agc	p.G166S		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	166					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AAGTACTGGCCGGCGATGAAG	0.652000													16	64					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195610085	195610085	+	Silent	SNP	G	G	A	rs56289265		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:195610085G>A	ENST00000333602.6	-	5	1169	c.552C>T	c.(550-552)ctC>ctT	p.L184L	TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.L247L|TNK2_ENST00000428187.1_Silent_p.L216L|TNK2_ENST00000316664.3_Silent_p.L184L|TNK2_ENST00000392400.1_Silent_p.L184L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	184	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TTCGGTGGTCGAGCGAGTGCA	0.647000													27	72					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975168	20975168	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:20975168G>A	ENST00000261383.3	-	53	10037	c.10038C>T	c.(10036-10038)atC>atT	p.I3346I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3346					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATGTACTTGATGCGCAGAT	0.483000													6	104					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18197303	18197303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:18197303C>T	ENST00000388870.2	+	11	1226	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Nonsense_Mutation_p.Q197*|KDM1B_ENST00000297792.5_Nonsense_Mutation_p.Q197*			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	329	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCTTACTCCTCAGAAATGTAT	0.383000													30	100					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574076	41574076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:41574076C>T	ENST00000263253.7	+	31	7580	c.6361C>T	c.(6361-6363)Cag>Tag	p.Q2121*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2121	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATGCCAGGTCAGCAGGGGGT	0.627000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				29	69					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48817687	48817687	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:48817687G>C	ENST00000505658.1	+	3	376	c.187G>C	c.(187-189)Gat>Cat	p.D63H	LUC7L3_ENST00000544170.1_5'UTR|LUC7L3_ENST00000393227.2_Missense_Mutation_p.D63H|LUC7L3_ENST00000240304.1_Missense_Mutation_p.D63H			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	63					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAATTCATGATGAAAATCT	0.328000													10	17					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941839	153941839	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:153941839G>A	ENST00000368607.3	+	4	717	c.451G>A	c.(451-453)Gat>Aat	p.D151N	CREB3L4_ENST00000405694.3_Missense_Mutation_p.D4N|CREB3L4_ENST00000368601.1_Missense_Mutation_p.D151N|CREB3L4_ENST00000368600.3_Missense_Mutation_p.D131N|CREB3L4_ENST00000271889.4_Missense_Mutation_p.D151N|CREB3L4_ENST00000368603.1_Missense_Mutation_p.D151N	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	151					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATGGTGCCTGATTCCTGCAT	0.572000													40	97					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121726296	121726296	+	Missense_Mutation	SNP	G	G	A	rs145779352		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:121726296G>A	ENST00000452319.1	+	6	710	c.650G>A	c.(649-651)cGt>cAt	p.R217H	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R217H|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	217					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACAGTGTCCCGTTTCTCCAGC	0.647000													35	95					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971177	21971177	+	Missense_Mutation	SNP	C	C	T	rs121913382		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:21971177C>T	ENST00000579755.1	-	2	516	c.224G>A	c.(223-225)gGa>gAa	p.G75E	CDKN2A_ENST00000497750.1_Missense_Mutation_p.E10K|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E61K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E61K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E10K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G116E|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E10K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E61K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G75E|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E10K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E61K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E10K			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	51					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.E61*(10)|p.E61fs*80(2)|p.E61fs*49(2)|p.V59fs*82(2)|p.E61fs*54(1)|p.0(1)|p.V28_V51del(1)|p.V59fs*45(1)|p.G116fs*>53(1)|p.V59_G67del(1)|p.A57fs*85(1)|p.E61fs*55(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCAGCAGCTCCGCCACTCGG	0.672000	E61*(A375_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	18					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20852018	20852018	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:20852018G>A	ENST00000262715.5	-	25	3634	c.3594C>T	c.(3592-3594)ttC>ttT	p.F1198F	TEP1_ENST00000556935.1_Silent_p.F1090F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1198	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAAAGTGGAAGAAGACTAATG	0.542000													8	13					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133257723	133257723	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:133257723C>T	ENST00000320574.5	-	2	248		c.e2+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTAGTGCTTACAGGATGCATG	0.517000								DNA polymerases (catalytic subunits)					26	52					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82267559	82267559	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:82267559C>G	ENST00000376520.4	+	7	1270	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V	TLE4_ENST00000376552.2_Missense_Mutation_p.L148V|TLE4_ENST00000265284.6_Missense_Mutation_p.L123V|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.L148V|TLE4_ENST00000376537.4_Missense_Mutation_p.L148V|TLE4_ENST00000376534.4_5'UTR	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	28										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCCCGTACCTCTGACTCCACA	0.547000													37	104					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360362	71360362	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:71360362G>T	ENST00000373677.1	+	2	3128	c.1866G>T	c.(1864-1866)caG>caT	p.Q622H	NHSL2_ENST00000540800.1_Missense_Mutation_p.Q988H|NHSL2_ENST00000535692.1_Missense_Mutation_p.Q622H|NHSL2_ENST00000510661.1_Missense_Mutation_p.Q757H			F5H593	F5H593_HUMAN	NHS-like 2	988										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TTAGCCTCCAGAGCCAGGAAG	0.532000													13	7					5.50884e-06	5.64452e-06	1	1	0
SP110	3431	broad.mit.edu	37	2	231079726	231079726	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:231079726G>A	ENST00000258381.6	-	3	332	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SP110_ENST00000540870.1_Silent_p.F91F|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000358662.4_Silent_p.F85F|SP110_ENST00000258382.5_Silent_p.F85F|SP110_ENST00000392048.3_Silent_p.F85F	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	85	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TAATTTGACTGAACAATGTCA	0.408000													21	29					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50396016	50396016	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:50396016C>T	ENST00000266025.3	-	1	1025	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	160					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGGCACTCGCAGGACCAC	0.662000													12	25					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80704433	80704433	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:80704433C>G	ENST00000458043.2	+	29	3355	c.3349C>G	c.(3349-3351)Caa>Gaa	p.Q1117E	OTOGL_ENST00000547103.1_Missense_Mutation_p.Q1117E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAGGCACATCAAAACAAATT	0.333000													14	41					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164728	15164728	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:15164728G>A	ENST00000427043.3	+	4	670	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CASP14_ENST00000221740.1_Missense_Mutation_p.R121Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	121					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CAGGCCCTGCGAGCTAAGCCC	0.527000													30	79					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375700	113375700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:113375700C>T	ENST00000316407.4	-	7	5239	c.4829G>A	c.(4828-4830)aGa>aAa	p.R1610K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1610K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1610					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACCTTGCTGTCTGCTTCCAAC	0.453000													24	45					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025414	16025414	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:16025414C>T	ENST00000402119.4	-	10	1738	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	CYP4F11_ENST00000591841.1_Missense_Mutation_p.E113K|CYP4F11_ENST00000248041.8_Missense_Mutation_p.E438K|CYP4F11_ENST00000326742.8_Intron	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGCACTACCTCAGGGTCTGGC	0.537000													36	96					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868471	58868471	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:58868471G>A	ENST00000311044.3	-	3	719	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Silent_p.L177L	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GGTGGTGGATGAGCTGCGAGT	0.677000													6	24					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270990	65270990	+	RNA	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:65270990G>T	ENST00000534336.1	+	0	5758					NR_002819.2																						GGAATAGCATGATGTGCTGTT	0.299000													10	56					9.31168e-06	9.5332e-06	1	1	0
NBEAL1	65065	broad.mit.edu	37	2	204055101	204055101	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:204055101C>G	ENST00000449802.1	+	45	7156	c.6823C>G	c.(6823-6825)Caa>Gaa	p.Q2275E		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2275	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACACCCTGTCAATTATTAAA	0.333000													13	27					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974125	64974125	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:64974125G>A	ENST00000399262.2	-	8	2020	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S382F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S419F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S382F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	601					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			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)					ACTTAAAGGAGAAATGTAAGA	0.363000													14	17					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295616	62295616	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62295616C>G	ENST00000378024.4	-	5	6547	c.6273G>C	c.(6271-6273)gtG>gtC	p.V2091V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2091					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCAAGGCTCACATCTGGGA	0.537000													84	179					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38102911	38102911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:38102911G>T	ENST00000592533.1	+	5	1062	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF540_ENST00000343599.5_Nonsense_Mutation_p.E244*|ZNF540_ENST00000316433.4_Nonsense_Mutation_p.E244*|ZNF540_ENST00000589117.1_Nonsense_Mutation_p.E212*	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAACCCTATGAATGTCAAGA	0.358000													7	24					0.0293803	0.0295699	1	1	0
NUP153	9972	broad.mit.edu	37	6	17629227	17629227	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:17629227G>A	ENST00000262077.2	-	18	3202	c.3203C>T	c.(3202-3204)tCa>tTa	p.S1068L	NUP153_ENST00000537253.1_Missense_Mutation_p.S1099L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1068					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTAGCTTCTGATGTCTTACA	0.473000													14	87					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	984734	984734	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:984734G>A	ENST00000379370.2	+	25	4467	c.4417G>A	c.(4417-4419)Gag>Aag	p.E1473K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1473	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGTGGATGGTGAGACCCCTGT	0.706000													13	31					0	0	1	0	0
RPRM	56475	broad.mit.edu	37	2	154335019	154335019	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:154335019C>T	ENST00000325926.3	-	1	303	c.61G>A	c.(61-63)Gag>Aag	p.E21K	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	21					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						TCCAGCGCCTCGCTGCTGTTG	0.711000													12	25					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195954608	195954608	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:195954608C>T	ENST00000296327.5	+	4	571	c.362C>T	c.(361-363)tCg>tTg	p.S121L		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACCATCACCTCGTGAGTGCCC	0.622000													14	47					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063541	247063541	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:247063541C>T	ENST00000366508.1	-	10	1499	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	AHCTF1_ENST00000326225.3_Missense_Mutation_p.E429K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E420K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	420	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-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)			TGTAGATATTCTCCTGACCTA	0.338000													15	42					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129725644	129725644	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:129725644G>C	ENST00000281441.3	+	4	515	c.427G>C	c.(427-429)Gac>Cac	p.D143H	TMEM45B_ENST00000524567.1_Missense_Mutation_p.D143H	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	143						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCCTCCGCTGGACCAGCACAT	0.542000													58	119					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123641434	123641434	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:123641434C>G	ENST00000606320.1	-	24	3678	c.3472G>C	c.(3472-3474)Gaa>Caa	p.E1158Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E1006Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1128Q|MPHOSPH9_ENST00000302349.5_Intron			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1006					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTAATCCTTTCCAAACGATCT	0.368000													18	18					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128587910	128587910	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:128587910C>T	ENST00000402030.2	+	7	939	c.867C>T	c.(865-867)ttC>ttT	p.F289F	IRF5_ENST00000477535.1_Silent_p.F203F|IRF5_ENST00000473745.1_Silent_p.F289F|IRF5_ENST00000249375.4_Silent_p.F289F|IRF5_ENST00000357234.5_Silent_p.F305F	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	289					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGAACTCTTCGGCCCCATAA	0.657000													20	52					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31336683	31336683	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:31336683C>T	ENST00000544665.3	+	20	2537	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	ITGAM_ENST00000287497.8_Silent_p.F821F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	821					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCACCTTCTTCTTCCCGCTTG	0.587000													14	32					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033251	41033251	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:41033251C>G	ENST00000380620.4	+	5	1357	c.765C>G	c.(763-765)atC>atG	p.I255M	B3GALT5_ENST00000398714.2_Missense_Mutation_p.I255M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.I255M|B3GALT5_ENST00000380618.1_Missense_Mutation_p.I255M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GGCTGAACATCAGATTGGAGG	0.552000													44	93					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589633	108589633	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:108589633C>T	ENST00000332082.4	+	3	842	c.24C>T	c.(22-24)ttC>ttT	p.F8F	WSCD2_ENST00000549903.1_Silent_p.F8F|WSCD2_ENST00000547525.1_Silent_p.F8F|WSCD2_ENST00000261400.3_Silent_p.F8F			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	8						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGTTCAAATTCCAGCGGTACT	0.577000													25	69					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12463854	12463854	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:12463854C>G	ENST00000242804.4	-	4	735	c.153G>C	c.(151-153)aaG>aaC	p.K51N	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGTACAGACTCTTCTGTGATG	0.433000													25	97					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924890	34924890	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:34924890A>T	ENST00000356577.4	+	3	3828	c.3353A>T	c.(3352-3354)tAt>tTt	p.Y1118F	SON_ENST00000381679.4_Missense_Mutation_p.Y1118F|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.Y1118F|SON_ENST00000300278.4_Missense_Mutation_p.Y1118F	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1118	14 X 6 AA repeats of [ED]-R-S-M-M-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGTCATCTTATACTGCTGAT	0.468000													30	71					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21960318	21960318	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:21960318T>A	ENST00000261200.4	-	36	4410	c.4411A>T	c.(4411-4413)Att>Ttt	p.I1471F	ABCC9_ENST00000261201.4_Missense_Mutation_p.I1471F|ABCC9_ENST00000345162.2_Missense_Mutation_p.I1435F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1471	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATCCATAATAAGAATGCTG	0.423000													30	91					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068471	89068471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:89068471G>A	ENST00000286614.6	-	8	1539	c.1258C>T	c.(1258-1260)Caa>Taa	p.Q420*		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	420	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TAACCAGGTTGAAGAGTTGTA	0.358000													16	33					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105912462	105912462	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:105912462C>T	ENST00000372548.4	+	13	2448	c.2339C>T	c.(2338-2340)tCt>tTt	p.S780F	CXorf57_ENST00000372544.2_Missense_Mutation_p.S683F	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	780										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTCGAACATCTCAAATAGAC	0.423000													66	53					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650997	232650997	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:232650997G>C	ENST00000366630.1	-	2	447	c.89C>G	c.(88-90)tCa>tGa	p.S30*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.S30*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	30					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATAATCATCTGACTGCATGAT	0.463000													16	49					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15513614	15513614	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:15513614G>A	ENST00000341776.2	+	16	3655	c.3411G>A	c.(3409-3411)agG>agA	p.R1137R	JARID2_ENST00000397311.3_Silent_p.R965R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1137					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGTCAGAGAGGAGGTGTCAGA	0.642000													37	32					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85693023	85693023	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:85693023G>A	ENST00000526033.1	-	15	1835	c.1519C>T	c.(1519-1521)Ctc>Ttc	p.L507F	PICALM_ENST00000356360.5_Missense_Mutation_p.L514F|PICALM_ENST00000532317.1_Missense_Mutation_p.L464F|PICALM_ENST00000393346.3_Missense_Mutation_p.L514F|PICALM_ENST00000528398.1_Missense_Mutation_p.L413F	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	514					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTTGGTTTGAGAAGTCCACCT	0.418000			T	"""MLLT10, MLL"""	"""TALL, AML, """								13	42					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060224	68060224	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:68060224C>T	ENST00000204961.4	+	5	1548	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	256					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TCATCATCATCTTCCTGACGG	0.622000													3	21					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66488626	66488626	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:66488626G>A	ENST00000533211.1	-	3	417	c.86C>T	c.(85-87)cCt>cTt	p.P29L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P29L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P29L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	29	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCGAGTCAGGAAGGTCCCA	0.592000													37	84					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659623	24659623	+	RNA	SNP	C	C	T	rs114457979	by1000genomes	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:24659623C>T	ENST00000414583.2	+	0	3148					NR_003714.1																						TGGATGTCTGCGGCCACACCG	0.637000													7	38					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572352	47572352	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:47572352C>T	ENST00000253048.5	-	14	2432	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	799							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CACGTGCCTTCCTCATTCTCC	0.672000													75	170					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55214800	55214800	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:55214800C>G	ENST00000337526.6	-	4	3291	c.3048G>C	c.(3046-3048)aaG>aaC	p.K1016N	RTN4_ENST00000394611.2_Missense_Mutation_p.K810N|RTN4_ENST00000394609.2_Missense_Mutation_p.K23N|RTN4_ENST00000357376.3_Missense_Mutation_p.K810N|RTN4_ENST00000405240.1_Missense_Mutation_p.K810N|RTN4_ENST00000357732.4_Missense_Mutation_p.K216N|RTN4_ENST00000404909.1_Missense_Mutation_p.K810N|RTN4_ENST00000317610.7_Missense_Mutation_p.K197N|RTN4_ENST00000354474.6_Missense_Mutation_p.K784N|RTN4_ENST00000402434.2_Missense_Mutation_p.K169N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1016	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCACTCCAGTCTTCTTAATGT	0.403000													14	19					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	629861	629861	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:629861C>G	ENST00000588649.2	-	3	585	c.501G>C	c.(499-501)ctG>ctC	p.L167L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	167					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTTGCTCAGGAGCCGGG	0.692000													12	23					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134334714	134334714	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:134334714C>T	ENST00000357304.4	+	10	1430	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	PRRC2B_ENST00000458550.1_Missense_Mutation_p.H459Y|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.H459Y	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	459							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGAAGCTTCATGGCTGGGC	0.597000													11	31					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32672326	32672326	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:32672326G>C	ENST00000537469.1	+	3	690	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.E135Q	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	135										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCAGCCAAGAGAAGACCAG	0.537000													31	66					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124011850	124011850	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:124011850G>C	ENST00000274008.4	+	14	2399	c.2330G>C	c.(2329-2331)aGg>aCg	p.R777T	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CGTCCAGATAGGATAGACAAG	0.373000													21	50					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211320015	211320015	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:211320015G>C	ENST00000443314.1	-	3	565	c.223C>G	c.(223-225)Ctt>Gtt	p.L75V	LANCL1_ENST00000441020.3_Missense_Mutation_p.L75V|LANCL1_ENST00000450366.2_Missense_Mutation_p.L75V|AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.L75V|LANCL1_ENST00000431941.2_Missense_Mutation_p.L75V			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	75						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACATCATAAAGATGTAAGTAA	0.383000													15	16					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206649690	206649690	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:206649690G>A	ENST00000367120.3	+	6	898	c.525G>A	c.(523-525)ggG>ggA	p.G175G	IKBKE_ENST00000537984.1_Silent_p.G90G	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	175	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CGGTCTATGGGACTGAGGAGT	0.632000													28	99					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52535546	52535546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:52535546G>T	ENST00000216286.5	-	1	166	c.167C>A	c.(166-168)tCa>tAa	p.S56*	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	56						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACCACGGCTGAGCTTTCGTC	0.622000													26	89					1.39806e-14	1.49126e-14	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40011329	40011329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40011329C>A	ENST00000319121.3	-	2	850	c.790G>T	c.(790-792)Gag>Tag	p.E264*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	264	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AAGAGAACCTCTTCAGAATCA	0.358000													10	33					2.17888e-05	2.22524e-05	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27094386	27094386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:27094386G>T	ENST00000324856.7	+	11	3465	c.3094G>T	c.(3094-3096)Gag>Tag	p.E1032*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1032*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E649*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1032	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCTTCACTGAGGAGAAGGC	0.507000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								37	127					1.08052e-11	1.13605e-11	1	1	0
CES5A	221223	broad.mit.edu	37	16	55880715	55880715	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:55880715C>T	ENST00000521992.1	-	13	1693	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	CES5A_ENST00000518005.1_Silent_p.K381K|CES5A_ENST00000290567.9_Silent_p.K487K|CES5A_ENST00000520435.1_Silent_p.K457K|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.K437K	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	487						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATTTCATCATCTTCCGGCTCA	0.562000													71	180					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27375555	27375555	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:27375555G>A	ENST00000296096.5	+	3	595		c.e3-1			NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23						cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTCTTGCAGAAGTGGCCGA	0.562000													10	33					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61443994	61443994	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:61443994G>A	ENST00000370461.1	+	5	3148	c.871G>A	c.(871-873)Gag>Aag	p.E291K	OGFR_ENST00000290291.6_Missense_Mutation_p.E343K			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	343					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CAGGGTGGACGAGGGGCCCCA	0.726000													5	4					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156096651	156096651	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156096651C>T	ENST00000368297.1	+	2	160	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	LMNA_ENST00000347559.2_Intron|LMNA_ENST00000473598.2_Intron|LMNA_ENST00000368299.3_Intron|LMNA_ENST00000368301.2_Intron|LMNA_ENST00000368300.4_Intron|LMNA_ENST00000392353.3_Silent_p.L20L|LMNA_ENST00000448611.2_Intron|LMNA_ENST00000361308.4_Intron	NM_001282624.1	NP_001269553.1	P02545	LMNA_HUMAN	lamin A/C	0	Head.|Interaction with MLIP.				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			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GACTGGCACTCTGCTGGCACA	0.637000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				13	15					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925509	133925509	+	Splice_Site	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:133925509C>T	ENST00000220616.4	+	20	4417	c.4377C>T	c.(4375-4377)tgC>tgT	p.C1459C	TG_ENST00000377869.1_Splice_Site_p.C1459C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1459					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTGGGATGCGGTAGGTCCA	0.567000													19	33					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935926	82935926	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:82935926C>T	ENST00000260047.6	+	6	1408	c.613C>T	c.(613-615)Cac>Tac	p.H205Y	ANKRD42_ENST00000533342.1_Missense_Mutation_p.H206Y|ANKRD42_ENST00000393392.2_Missense_Mutation_p.H178Y|ANKRD42_ENST00000531895.1_Missense_Mutation_p.H206Y			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	178										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGCCACCTTCACTGTTTCAA	0.323000													17	60					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575078	4575078	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:4575078C>G	ENST00000301396.4	-	16	3865	c.3640G>C	c.(3640-3642)Gag>Cag	p.E1214Q	PELP1_ENST00000269230.7_Missense_Mutation_p.E980Q|PELP1_ENST00000572293.1_Missense_Mutation_p.E1120Q|PELP1_ENST00000574876.1_Missense_Mutation_p.E1070Q|PELP1_ENST00000436683.2_Missense_Mutation_p.E846Q			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1070					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCCATCCTCAGTCTCCTCT	0.607000													10	23					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40010531	40010531	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40010531C>T	ENST00000319121.3	-	2	1648	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	530						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TGTCGAGTCTCTGTATCATAG	0.433000													23	50					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79791990	79791990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:79791990C>T	ENST00000335016.5	+	11	1451	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q429*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	429	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GGGACCTCCTCAGCAGCCGCC	0.468000													20	29					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818727	99818727	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:99818727C>T	ENST00000317271.2	+	6	1197	c.834C>T	c.(832-834)ccC>ccT	p.P278P	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	278						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCACACCCATCCCTGCAC	0.672000													15	39					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41601388	41601388	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:41601388G>A	ENST00000216237.5	+	1	180	c.22G>A	c.(22-24)Gag>Aag	p.E8K	L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	8					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			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						CCGGAGTATTGAGGTGAGAAG	0.607000													36	85					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24518661	24518661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:24518661G>A	ENST00000355123.4	-	14	1950	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q503*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q503*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	503					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATCTGCTGATGTTTGCCA	0.328000													15	31					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602449	5602449	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:5602449G>C	ENST00000345043.2	+	1	343	c.343G>C	c.(343-345)Gat>Cat	p.D115H	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTCCTTTGATGGCTGCCT	0.512000													18	54					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30681765	30681765	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:30681765G>C	ENST00000534862.1	+	12	1495	c.1132G>C	c.(1132-1134)Gct>Cct	p.A378P	HCK_ENST00000518730.1_Missense_Mutation_p.A376P|HCK_ENST00000538448.1_Missense_Mutation_p.A377P|HCK_ENST00000375852.2_Missense_Mutation_p.A398P|HCK_ENST00000375862.2_Missense_Mutation_p.A397P|HCK_ENST00000520553.1_Missense_Mutation_p.A377P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	398	Protein kinase.			I -> T (in Ref. 6; AAI13855).	interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGTAAGATTGCTGACTTTGG	0.567000													18	68					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427284	104427284	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:104427284G>A	ENST00000297579.5	+	1	343	c.66G>A	c.(64-66)acG>acA	p.T22T	SLC25A32_ENST00000543107.1_5'UTR|SLC25A32_ENST00000297578.4_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGGGACCAACGAGAGGACTCT	0.687000													16	33					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35707202	35707202	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:35707202C>T	ENST00000314888.9	-	37	5175	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.E1608K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1608	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCACTCTCTAACATTGTC	0.642000													42	76					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69746301	69746301	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:69746301G>C	ENST00000409085.4	-	12	1658	c.1282C>G	c.(1282-1284)Ctg>Gtg	p.L428V	AAK1_ENST00000409068.1_Missense_Mutation_p.L428V|AAK1_ENST00000406297.3_Missense_Mutation_p.L428V	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	428	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GTTTGCGGCAGAGGCTGGCTG	0.607000													3	5					0	0	1	0	0
SCIMP	388325	broad.mit.edu	37	17	5118222	5118222	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:5118222G>C	ENST00000574081.1	-	4	385	c.281C>G	c.(280-282)tCt>tGt	p.S94C	SCIMP_ENST00000574297.1_Missense_Mutation_p.S94C|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Missense_Mutation_p.S87C|SCIMP_ENST00000399600.4_Missense_Mutation_p.S87C|RP11-333E1.1_ENST00000571689.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	94						integral to membrane											ATACTTACAAGAGTCTTCTAG	0.363000													15	35					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15729981	15729981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:15729981G>A	ENST00000378076.3	-	3	753	c.400C>T	c.(400-402)Cag>Tag	p.Q134*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	134					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCAAACCACTGATTGGATTTG	0.418000													21	91					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118869200	118869200	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:118869200G>A	ENST00000334418.1	+	2	237	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	61										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GCCCGAACACGAGCGATGCTG	0.682000													7	22					0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900715	28900715	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:28900715G>A	ENST00000528584.1	+	0	162					NR_036443.1																						ACTGGTGGAGGAGGTGGTGGC	0.612000													26	51					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139279208	139279208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:139279208C>A	ENST00000298532.2	-	13	1752	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	462	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ATTAACTGTTCCTCTTCTTTT	0.338000													8	37					5.4927e-09	5.69817e-09	1	1	0
BEGAIN	57596	broad.mit.edu	37	14	101004312	101004312	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:101004312G>T	ENST00000556751.1	-	5	4988	c.1584C>A	c.(1582-1584)ctC>ctA	p.L528L	BEGAIN_ENST00000355173.2_Silent_p.L592L|BEGAIN_ENST00000443071.2_Silent_p.L592L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	592						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCGCTCAGTTGAGCAAGGTTC	0.721000													9	17					0.000442599	0.000449442	1	1	0
CPEB4	80315	broad.mit.edu	37	5	173317475	173317475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:173317475C>T	ENST00000265085.5	+	1	2193	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	CPEB4_ENST00000519835.1_Nonsense_Mutation_p.Q247*|CPEB4_ENST00000520867.1_Nonsense_Mutation_p.Q247*|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.Q247*	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	247							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCCAGCATCAGCAGCAAAG	0.532000													27	51					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934477	68934477	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:68934477C>G	ENST00000356291.2	-	7	673	c.614G>C	c.(613-615)aGa>aCa	p.R205T	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	205					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTGGACAATTCTTTGAGTAGA	0.478000													15	56					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924697	150924697	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:150924697C>G	ENST00000261800.5	-	9	6003	c.5991G>C	c.(5989-5991)ttG>ttC	p.L1997F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1997	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGTCATTCAAATGATTGC	0.488000													30	27					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461957	5461957	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:5461957C>T	ENST00000345221.3	-	4	2613	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	NLRP1_ENST00000262467.5_Missense_Mutation_p.E687K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E687K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.E687K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E687K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E687K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	687					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAGATGTTCTCCATCTCTCTC	0.552000													38	93					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40044127	40044127	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:40044127C>G	ENST00000373233.3	-	34	6815	c.6638G>C	c.(6637-6639)gGg>gCg	p.G2213A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2213					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			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)				AGCTGACTCCCCATGCCAGCC	0.602000													7	16					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35513813	35513813	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:35513813G>T	ENST00000317991.5	+	17	2043	c.1851G>T	c.(1849-1851)gtG>gtT	p.V617V	GRAMD1A_ENST00000411896.2_Intron|GRAMD1A_ENST00000504615.2_Intron|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Intron	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	617						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATCTGTGTGAGGTAGGGTC	0.706000													3	11					0.004672	0.00472118	1	1	0
PEX14	5195	broad.mit.edu	37	1	10689948	10689948	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:10689948G>A	ENST00000356607.4	+	9	1118	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	PEX14_ENST00000538836.1_Silent_p.Q282Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	346					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGTGCAGAGGGAGGACC	0.657000													17	55					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72606943	72606943	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:72606943C>G	ENST00000272427.6	-	19	2167	c.2037G>C	c.(2035-2037)ttG>ttC	p.L679F		NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	679					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AAAGTTGCATCAAGGATGTGG	0.453000													12	24					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449797	91449797	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:91449797C>T	ENST00000266719.3	-	2	509	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	88					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AATGGCTTTTCAGGAATGGTT	0.358000													14	30					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60795042	60795042	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:60795042C>G	ENST00000335670.6	-	8	1200	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	RORA_ENST00000449337.2_Missense_Mutation_p.R312T|RORA_ENST00000261523.5_Missense_Mutation_p.R400T|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.R392T|RP11-219B17.1_ENST00000558140.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	400	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|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|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCACATTCTGATAAACAC	0.458000													95	167					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	174077	174077	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:174077G>C	ENST00000283426.6	+	16	3248	c.3198G>C	c.(3196-3198)ttG>ttC	p.L1066F		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1066	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ACAGTGGCTTGAGGTTTGAGA	0.537000													18	17					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57193662	57193662	+	Translation_Start_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:57193662G>C	ENST00000395123.2	-	0	288				SLC43A3_ENST00000533524.1_De_novo_Start_OutOfFrame|SLC43A3_ENST00000352187.1_De_novo_Start_OutOfFrame|SLC43A3_ENST00000529554.1_De_novo_Start_OutOfFrame|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_De_novo_Start_OutOfFrame	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3						transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AAGTGGAGTGGATCTTCAAAT	0.592000													17	40					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226555921	226555921	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:226555921C>T	ENST00000366794.5	-	16	2399	c.2256G>A	c.(2254-2256)ctG>ctA	p.L752L	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	752	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTGCATTGTTCAGGAGCGGAG	0.577000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					27	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433944	179433944	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:179433944C>G	ENST00000589042.1	-	326	77139	c.76915G>C	c.(76915-76917)Gag>Cag	p.E25639Q	TTN_ENST00000342175.6_Missense_Mutation_p.E16766Q|TTN_ENST00000591111.1_Missense_Mutation_p.E23998Q|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16574Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16699Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23071Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23998	Ig-like 125.						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)			TCACGTTTCTCAACAATGTAA	0.373000													46	152					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210948797	210948797	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:210948797G>A	ENST00000367007.4	-	10	2093	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	KCNH1_ENST00000271751.4_Silent_p.L669L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	669					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATCACATGCAGATCACAGTAG	0.517000													27	62					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8062158	8062158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:8062158C>T	ENST00000223145.5	+	3	1212	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	219										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGGTCACATCAGCGTTCTGC	0.368000													21	38					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563608	55563608	+	Missense_Mutation	SNP	G	G	A	rs144571267	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:55563608G>A	ENST00000335605.1	+	1	577	c.577G>A	c.(577-579)Gat>Aat	p.D193N		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D193N(1)|p.D193Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCTGGCTCTGATATACTCAT	0.433000													47	131					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137222919	137222919	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:137222919C>G	ENST00000239926.4	+	10	1716	c.1342C>G	c.(1342-1344)Ctt>Gtt	p.L448V	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.L264V|MYOT_ENST00000515645.1_Missense_Mutation_p.L333V|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	448	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAACCAAACTCTTCCAGCTCC	0.378000													25	29					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92357586	92357586	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:92357586C>T	ENST00000267620.10	-	7	890	c.721G>A	c.(721-723)Gag>Aag	p.E241K	FBLN5_ENST00000342058.4_Missense_Mutation_p.E200K|FBLN5_ENST00000556154.1_Missense_Mutation_p.E205K			Q9UBX5	FBLN5_HUMAN	fibulin 5	200	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTTCCATCCTCATTGAGGGTA	0.473000													16	41					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605872	101605872	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:101605872G>C	ENST00000284395.5	+	33	5621	c.5221G>C	c.(5221-5223)Gag>Cag	p.E1741Q	LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1744Q|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1744					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCAGCTCTGAGGGCAGAGG	0.622000													21	56					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31939164	31939164	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:31939164C>T	ENST00000375349.3	-	2	700	c.289G>A	c.(289-291)Gag>Aag	p.E97K	DXO_ENST00000337523.5_Missense_Mutation_p.E97K|DXO_ENST00000478221.1_Intron|DXO_ENST00000375356.3_Missense_Mutation_p.E97K					decapping exoribonuclease	97																	TGGACCTCCTCGTCCCGGGGC	0.627000													30	54					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136045663	136045663	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:136045663C>T	ENST00000471595.1	+	11	1127	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	PCCB_ENST00000251654.4_Missense_Mutation_p.S370L|PCCB_ENST00000468777.1_Missense_Mutation_p.S401L|PCCB_ENST00000483687.1_Missense_Mutation_p.S351L|PCCB_ENST00000466072.1_Missense_Mutation_p.S390L|PCCB_ENST00000482086.1_Missense_Mutation_p.S254L|PCCB_ENST00000469217.1_Missense_Mutation_p.S390L|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000462637.1_Missense_Mutation_p.S347L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000490504.1_Missense_Mutation_p.S313L			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	370	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GATATTAATTCATCTGTGAAA	0.418000													24	79					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45844773	45844773	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:45844773G>A	ENST00000397928.1	+	24	4033	c.3588G>A	c.(3586-3588)agG>agA	p.R1196R	AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Silent_p.R1196R|TRPM2_ENST00000397932.2_Silent_p.R1246R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.R1176R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1196						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGATCGTGAGGACGCTGCGGG	0.662000													9	15					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98307646	98307646	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:98307646C>A	ENST00000264193.2	-	4	1082	c.864G>T	c.(862-864)ttG>ttT	p.L288F		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	288						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTCTTGATTCAAGTATGTTG	0.438000													17	27					2.35188e-11	2.46444e-11	1	1	0
PKD1	5310	broad.mit.edu	37	16	2167660	2167660	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:2167660G>T	ENST00000262304.4	-	6	1423	c.1215C>A	c.(1213-1215)ctC>ctA	p.L405L	PKD1_ENST00000423118.1_Silent_p.L405L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	405					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGAGGGGCAGAGCGGGTGCA	0.682000													7	14					0.0381472	0.0383624	1	1	0
MUC16	94025	broad.mit.edu	37	19	9000463	9000463	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:9000463C>T	ENST00000397910.4	-	54	40724	c.40521G>A	c.(40519-40521)acG>acA	p.T13507T	MUC16_ENST00000380951.5_Silent_p.T148T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13509	SEA 10.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T13507T(1)|p.T192T(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						GGACTCTCTCCGTGGTGTTAA	0.507000													37	84					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40010049	40010049	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40010049C>G	ENST00000319121.3	-	2	2130	c.2070G>C	c.(2068-2070)gaG>gaC	p.E690D		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	690						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GACGATGTATCTCTTGCATCT	0.507000													48	98					0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7910977	7910977	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:7910977G>T	ENST00000377516.2	-	3	429	c.109C>A	c.(109-111)Cat>Aat	p.H37N	UTS2_ENST00000054668.5_Missense_Mutation_p.H52N|UTS2_ENST00000361696.5_Missense_Mutation_p.H37N			O95399	UTS2_HUMAN	urotensin 2	37					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTCTTCATGAGGTGCTACA	0.463000													14	52					1.36491e-13	1.45218e-13	1	1	0
ACSS2	55902	broad.mit.edu	37	20	33508913	33508913	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:33508913C>G	ENST00000360596.2	+	10	1459	c.1248C>G	c.(1246-1248)ctC>ctG	p.L416L	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.L429L|ACSS2_ENST00000336325.4_Silent_p.L366L	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	416					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCGTCTGCTCATGAAGTTTG	0.542000													72	161					0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667687	82667687	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:82667687C>G	ENST00000297265.4	+	3	644	c.451C>G	c.(451-453)Caa>Gaa	p.Q151E		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	151	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGCATTTTCTCAACGGGTTGG	0.403000													19	49					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156843618	156843618	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156843618C>G	ENST00000368196.3	+	8	1164	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L	NTRK1_ENST00000358660.3_Silent_p.L348L|NTRK1_ENST00000524377.1_Silent_p.L348L|NTRK1_ENST00000392302.2_Silent_p.L318L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	348	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTCTGCGCCTCAACCAGCCCA	0.617000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			6	14					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53133432	53133432	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:53133432G>A	ENST00000607203.1	-	1	37	c.38C>T	c.(37-39)tCa>tTa	p.S13L	RFT1_ENST00000296292.3_Silent_p.F391F|RFT1_ENST00000394738.3_Silent_p.F352F																							CAGCAAATGTGAAACACTCTG	0.468000													17	53					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899385	133899385	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:133899385G>A	ENST00000220616.4	+	9	1808	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	TG_ENST00000377869.1_Missense_Mutation_p.D590N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	590					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGTGCCAGAAGATGTGGCAAG	0.468000													32	71					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85435720	85435720	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:85435720C>G	ENST00000359152.5	-	1	3351	c.3352G>C	c.(3352-3354)Gag>Cag	p.E1118Q	SYTL2_ENST00000354566.3_Missense_Mutation_p.E594Q|SYTL2_ENST00000525423.1_Missense_Mutation_p.E594Q|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AAAGCACTCTCAGTTATTAAC	0.443000													8	36					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63810739	63810739	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:63810739G>A	ENST00000279873.7	+	5	1236	c.826G>A	c.(826-828)Gat>Aat	p.D276N	ARID5B_ENST00000309334.5_Missense_Mutation_p.D33N	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	276					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAACAATTCCGATGGCAAAGC	0.423000													23	21					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66599265	66599265	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:66599265G>C	ENST00000319194.5	+	3	409	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	DIS3L_ENST00000441424.2_5'UTR|DIS3L_ENST00000319212.4_Missense_Mutation_p.E133Q	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	133					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGAAAGAGGAGAGTCCATGGA	0.478000													6	43					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763168	92763168	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:92763168G>C	ENST00000318238.4	-	5	3333	c.2117C>G	c.(2116-2118)tCt>tGt	p.S706C	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706C|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706C	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	706										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCTGAAGAATAGTTTTC	0.323000													13	32					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300263	101300263	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:101300263G>A	ENST00000519449.1	-	3	456	c.140C>T	c.(139-141)tCt>tTt	p.S47F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S47F	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	47					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGATGAAGCAGAGGACTGAAG	0.413000													13	26					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43310609	43310609	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:43310609G>C	ENST00000331495.3	+	4	682	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	FMNL1_ENST00000328118.3_Missense_Mutation_p.E116Q|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	116	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGAGTTCAGGAGTCCACGCA	0.627000													5	3					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48780691	48780691	+	Splice_Site	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:48780691C>A	ENST00000316623.5	-	26	3538		c.e26-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATTGATATCTTCAAGAATA	0.448000													20	60					1.1804e-14	1.26017e-14	1	1	0
ZBTB4	57659	broad.mit.edu	37	17	7366829	7366829	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:7366829C>G	ENST00000311403.4	-	4	1811	c.1472G>C	c.(1471-1473)gGa>gCa	p.G491A	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G491A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	491	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACTCCCCCCTCCACCACTGCT	0.637000													3	12					0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47841418	47841418	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:47841418C>T	ENST00000240364.2	-	1	111	c.32G>A	c.(31-33)gGa>gAa	p.G11E	FAM117A_ENST00000513602.1_Intron|FAM117A_ENST00000514018.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	11										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ccaggcacctccgcctctgcc	0.816000													4	8					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48866199	48866199	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:48866199G>T	ENST00000314191.2	-	7	758	c.702C>A	c.(700-702)ttC>ttA	p.F234L	PRKDC_ENST00000338368.3_Missense_Mutation_p.F234L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	234					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			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)				TGGACTTAGTGAAGTTGCACA	0.393000								Non-homologous end-joining					6	10					3.59834e-05	3.66889e-05	1	1	0
RFX5	5993	broad.mit.edu	37	1	151314685	151314685	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:151314685C>T	ENST00000290524.4	-	11	2006	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	RFX5_ENST00000452513.2_Missense_Mutation_p.D570N|RFX5_ENST00000368870.2_Missense_Mutation_p.D610N|RFX5_ENST00000452671.2_Missense_Mutation_p.D610N	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	610						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D610N(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTTTTGGGTCTTTATGCTCC	0.463000													21	53					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203668709	203668709	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:203668709G>C	ENST00000357681.5	+	4	1636	c.513G>C	c.(511-513)tgG>tgC	p.W171C	ATP2B4_ENST00000391954.2_Missense_Mutation_p.W171C|ATP2B4_ENST00000367218.3_Missense_Mutation_p.W171C|ATP2B4_ENST00000367219.3_Missense_Mutation_p.W171C|ATP2B4_ENST00000341360.2_Missense_Mutation_p.W171C	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	171					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTAATGATTGGAGCAAAGAGA	0.517000													49	95					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	19004313	19004313	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:19004313G>C	ENST00000427170.2	-	2	392	c.321C>G	c.(319-321)ctC>ctG	p.L107L	CERS1_ENST00000429504.2_Silent_p.L107L|CERS1_ENST00000542296.2_Silent_p.L9L|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	107	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						CCAGGTAGAAGAGAAACTTCC	0.617000													8	16					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90124773	90124773	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:90124773G>A	ENST00000405460.2	+	77	16477	c.16381G>A	c.(16381-16383)Gaa>Aaa	p.E5461K	GPR98_ENST00000425867.2_Missense_Mutation_p.E1122K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5461	Calx-beta 35.				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)		ACCACAGGTTGAAGTGTATTT	0.308000													8	14					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868208	73868208	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:73868208G>A	ENST00000272425.3	-	2	697	c.548C>T	c.(547-549)tCt>tTt	p.S183F		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	183	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGCCATAGCAGAGAGCTGGAT	0.562000													18	58					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035763	86035763	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:86035763G>A	ENST00000414626.2	+	6	1875	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R349Q			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	349					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGTTCCTCGAAGATCAAAA	0.333000													16	39					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21875391	21875391	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:21875391G>C	ENST00000429584.2	+	1	1287	c.789G>C	c.(787-789)aaG>aaC	p.K263N	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	263	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	p.K263K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GCTGCGAAAAGATGTTCCGGG	0.488000													196	67					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910743	14910743	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:14910743G>T	ENST00000248073.2	-	1	280	c.206C>A	c.(205-207)gCt>gAt	p.A69D	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	69					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ACAGAGGTCAGCAAAAGACAG	0.463000													25	61					9.04412e-07	9.30508e-07	1	1	0
SLC9B2	133308	broad.mit.edu	37	4	103964585	103964585	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:103964585C>G	ENST00000394785.3	-	9	1645	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N	SLC9B2_ENST00000362026.3_Missense_Mutation_p.K338N|SLC9B2_ENST00000339611.4_Missense_Mutation_p.K338N|SLC9B2_ENST00000503230.1_Missense_Mutation_p.K281N|SLC9B2_ENST00000503103.1_Missense_Mutation_p.K281N	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	338					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GGAATGTTCTCTTACACACAA	0.388000													10	28					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25019798	25019798	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:25019798C>T	ENST00000400382.1	+	11	1690	c.935C>T	c.(934-936)aCg>aTg	p.T312M	GGT1_ENST00000400380.1_Missense_Mutation_p.T312M|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.T312M|GGT1_ENST00000248923.4_Missense_Mutation_p.T312M|GGT1_ENST00000406383.2_Missense_Mutation_p.T312M			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	312					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AAGGGCCTGACGTACCACCGC	0.612000													22	37					0	0	1	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24506961	24506961	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:24506961C>T	ENST00000558293.1	+	0	176					NR_102693.1																						GGATCGGCTTCGCCGTCGCCC	0.612000													22	41					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	882848	882848	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:882848G>C	ENST00000456758.2	+	7	631	c.631G>C	c.(631-633)Gat>Cat	p.D211H	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000457378.2_Missense_Mutation_p.D174H|SUN1_ENST00000425407.2_Missense_Mutation_p.D103H|SUN1_ENST00000401592.1_Missense_Mutation_p.D153H|SUN1_ENST00000389574.3_Missense_Mutation_p.D103H|SUN1_ENST00000403868.1_Missense_Mutation_p.D153H|SUN1_ENST00000405266.1_Missense_Mutation_p.D153H			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	153	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAGGTCTTGATGATGATGG	0.284000													10	33					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3659117	3659117	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:3659117G>A	ENST00000382622.3	+	3	667	c.277G>A	c.(277-279)Gag>Aag	p.E93K	PRMT8_ENST00000452611.2_Missense_Mutation_p.E84K|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	93					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAAGGATGAGGTGCGGAC	0.512000													55	128					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150907010	150907010	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:150907010C>T	ENST00000329903.4	+	1	88	c.55C>T	c.(55-57)Cat>Tat	p.H19Y		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	19					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAACCATCATGCACCTCC	0.512000													66	32					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33886999	33886999	+	Silent	SNP	C	C	T	rs142166776		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:33886999C>T	ENST00000307296.3	+	12	1937	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	PDCD6IP_ENST00000457054.2_Silent_p.I525I			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	520	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GTGACACCATCGTGCTTTTGT	0.468000													23	51					0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35684256	35684256	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:35684256G>A	ENST00000378292.3	-	8	1961	c.759C>T	c.(757-759)atC>atT	p.I253I	TPM2_ENST00000360958.2_Silent_p.I253I|TPM2_ENST00000329305.2_Silent_p.I253I|TPM2_ENST00000378300.5_Silent_p.I253I	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	253					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTAGGTCATCGATGGTTTTCT	0.483000													15	38					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6535141	6535141	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:6535141C>G	ENST00000377748.1	-	6	996	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E167Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E169Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E127Q|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E146Q|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E90Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E159Q|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E90Q	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	146					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACGATCTCTGTCTCAATG	0.572000													55	153					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891480	6891480	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:6891480C>A	ENST00000307322.4	+	1	557	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCACTTCTTCTGTGACAGCC	0.542000													44	101					2.68985e-26	2.91654e-26	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													10	57					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832752	49832752	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:49832752C>T	ENST00000396822.1	-	3	685	c.328G>A	c.(328-330)Gag>Aag	p.E110K	SNAI2_ENST00000020945.1_Missense_Mutation_p.E110K			O43623	SNAI2_HUMAN	snail family zinc finger 2	110					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGTCTTTCCTCTTCATCACTA	0.483000													53	111					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56257915	56257915	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:56257915G>A	ENST00000327216.2	-	1	956	c.932C>T	c.(931-933)tCt>tTt	p.S311F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGATTTTTAAGAAAAGTATAT	0.303000													4	15					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915676	136915676	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:136915676G>A	ENST00000303407.7	-	5	719	c.534C>T	c.(532-534)tcC>tcT	p.S178S	BRD3_ENST00000371834.2_Silent_p.S178S|BRD3_ENST00000357885.2_Silent_p.S178S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	178						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGTCGCTGGGGAGACAGAGG	0.597000			T	C15orf55	lethal midline carcinoma of young people								18	92					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680479	18680479	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:18680479G>C	ENST00000380548.4	+	11	1645	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D419H|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D436H|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D436H	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	436	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAACATTTTTGACTGCCCTAA	0.512000													42	91					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30834721	30834721	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:30834721G>A	ENST00000256079.4	-	4	692	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	118					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATGTTTTATGATGGCACGGA	0.383000													8	25					0	0	1	0	0
TEX29	121793	broad.mit.edu	37	13	111992271	111992271	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:111992271C>G	ENST00000283547.1	+	4	360	c.231C>G	c.(229-231)atC>atG	p.I77M		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	77						integral to membrane											TCATCACCATCATCTACAGGT	0.547000													74	119					0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72533553	72533553	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:72533553G>T	ENST00000321297.5	+	6	813	c.675G>T	c.(673-675)ctG>ctT	p.L225L	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	225					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCCAGGAGCTGAAGAAGGCTG	0.687000													19	40					5.26018e-13	5.57275e-13	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4793481	4793481	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:4793481C>T	ENST00000269856.3	+	1	1754	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	539					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTTCACCCCTCTGCACATGGC	0.642000													40	97					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297076	62297076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62297076C>A	ENST00000378024.4	-	5	5087	c.4813G>T	c.(4813-4815)Gaa>Taa	p.E1605*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1605					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTCTCCTTCCACTTTGGGA	0.413000													23	56					3.08376e-08	3.19116e-08	1	1	0
RBP3	5949	broad.mit.edu	37	10	48390440	48390440	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:48390440C>T	ENST00000224600.4	-	1	551	c.438G>A	c.(436-438)atG>atA	p.M146I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	146	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTCCCCCATCATGCTCAGCA	0.647000													35	41					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109356991	109356991	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:109356991G>C	ENST00000283195.6	+	7	955	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	277					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGAAATGATGAACTGTCAGC	0.363000													58	177					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508425	123508425	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:123508425C>G	ENST00000223026.4	+	3	736	c.98C>G	c.(97-99)tCt>tGt	p.S33C	HYAL4_ENST00000476325.1_Missense_Mutation_p.S33C	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	33					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGTCTATCTCTTGTCTAAAA	0.333000													17	42					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993266	140993266	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:140993266C>T	ENST00000285879.4	+	4	362	c.76C>T	c.(76-78)Cct>Tct	p.P26S	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	26							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTTGTCCTGAGGGGGA	0.562000										HNSCC(15;0.026)			6	79					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100806449	100806449	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:100806449G>A	ENST00000249330.2	-	2	1915	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	VGF_ENST00000445482.2_Missense_Mutation_p.S559L	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	559					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCAAGGCCGAGGGCGGCTG	0.746000													19	34					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610332	78610332	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:78610332C>T	ENST00000396137.4	+	9	2779	c.2317C>T	c.(2317-2319)Ctc>Ttc	p.L773F	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	773					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTCATTACCTCTCAGTGGTGT	0.463000													44	61					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31971229	31971229	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:31971229G>A	ENST00000432498.1	+	10	1328	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	SFI1_ENST00000443326.1_Missense_Mutation_p.R230Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R288Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R312Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R230Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R159Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R159Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	312					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ATGGCTGAGCGATTCCATCAT	0.507000													18	54					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638760	2638760	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:2638760G>A	ENST00000329276.5	+	12	2121	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	535	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCAAGAGGAAGAAGTCTACAC	0.478000													15	28					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475048	7475048	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:7475048G>A	ENST00000399422.4	+	7	1084	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	346					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTGCTTGACCGGAGGGGAGCC	0.498000													22	41					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19492955	19492955	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:19492955G>A	ENST00000407835.1	+	11	1031	c.775G>A	c.(775-777)Gag>Aag	p.E259K	CDC45_ENST00000263201.1_Missense_Mutation_p.E259K|CDC45_ENST00000404724.3_Missense_Mutation_p.E213K|CDC45_ENST00000437685.2_Missense_Mutation_p.E291K			O75419	CDC45_HUMAN	cell division cycle 45	259					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAACGAGGATGAGGAGAACAC	0.557000													4	40					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156929813	156929813	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:156929813C>G	ENST00000257527.4	-	12	1384	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	ADAM19_ENST00000517905.1_Missense_Mutation_p.E436Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.E438Q|ADAM19_ENST00000430702.2_Missense_Mutation_p.E169Q	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	436	Disintegrin.|Poly-Glu.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCTCACCTCTTCTTCTCCA	0.483000													65	75					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319444	21319444	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:21319444C>T	ENST00000583088.1	+	3	1685	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	KCNJ12_ENST00000331718.5_Silent_p.L264L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											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)		CCGCATCTTTCTGGTGTCGCC	0.612000										Prostate(3;0.18)			23	75					0	0	1	0	0
NADK2	133686	broad.mit.edu	37	5	36219779	36219779	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:36219779G>A	ENST00000397338.1	-	5	295	c.74C>T	c.(73-75)tCt>tTt	p.S25F	NADK2_ENST00000282512.3_Missense_Mutation_p.S25F|NADK2_ENST00000381937.4_Missense_Mutation_p.S188F|NADK2_ENST00000506945.1_Missense_Mutation_p.S25F|NADK2_ENST00000514504.1_Missense_Mutation_p.S188F					NAD kinase 2, mitochondrial																		ATGACCCTCAGACCTATATTT	0.343000													15	25					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116094291	116094291	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:116094291G>A	ENST00000374193.4	-	3	258	c.12C>T	c.(10-12)ctC>ctT	p.L4L	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L4L|WDR31_ENST00000374195.3_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	4										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTTGGCACCTGAGTAGCAGCA	0.403000													10	30					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124618415	124618415	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:124618415C>G	ENST00000403470.1	-	6	777	c.722G>C	c.(721-723)cGa>cCa	p.R241P	VSIG2_ENST00000326621.5_Missense_Mutation_p.R241P			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	241						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCGGCCACTCGGCCTTGGGA	0.607000													12	61					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47322148	47322148	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47322148C>T	ENST00000285093.10	-	4	891	c.416G>A	c.(415-417)gGa>gAa	p.G139E	ACAA2_ENST00000587994.1_Missense_Mutation_p.G136E|ACAA2_ENST00000589432.1_Missense_Mutation_p.G84E	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	139					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						GATATCTGATCCAAGCTTGGT	0.338000													13	29					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38818249	38818249	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:38818249C>G	ENST00000476049.1	-	2	185	c.144G>C	c.(142-144)ttG>ttC	p.L48F	KRT222_ENST00000394052.3_Missense_Mutation_p.L48F			Q8N1A0	KT222_HUMAN	keratin 222	48						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GAGCTGCCTTCAAAGCCTCTT	0.443000													37	115					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362583	105362583	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:105362583C>T	ENST00000369774.4	-	15	2668	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.E770K|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.E665K|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.E633K			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	798					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGAATCCTCACTCTTGGAG	0.637000													107	100					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236737981	236737981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:236737981G>A	ENST00000366582.3	-	23	3421	c.3307C>T	c.(3307-3309)Cag>Tag	p.Q1103*	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1103					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			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)			GCTGTGATCTGAATGGTTGGC	0.383000													20	42					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51690924	51690924	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:51690924G>A	ENST00000267012.4	-	8	688	c.627C>T	c.(625-627)atC>atT	p.I209I	BIN2_ENST00000604560.1_Silent_p.I182I|BIN2_ENST00000452142.2_Silent_p.I177I|BIN2_ENST00000544402.1_Silent_p.I183I	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	209	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGTTTTGGAAGATGGTCACAT	0.423000													18	21					0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165634313	165634313	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:165634313G>T	ENST00000354775.4	-	10	1708	c.1404C>A	c.(1402-1404)ttC>ttA	p.F468L	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.F374L	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	444					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			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)	AGTTGTTAATGAAGCACGTCC	0.463000													20	36					1.1804e-14	1.26017e-14	1	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31854514	31854514	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:31854514C>T	ENST00000397525.1	-	7	1133	c.910G>A	c.(910-912)Gac>Aac	p.D304N	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.D304N|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.D141N|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.D304N|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	304						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGTCAAAGTCTCCTGGGGAC	0.493000													16	38					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76107373	76107373	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:76107373C>G	ENST00000238667.4	+	7	1667	c.1311C>G	c.(1309-1311)atC>atG	p.I437M	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Missense_Mutation_p.I232M|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.I152M	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	437					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGAAGGCATCTCCTCCGGCC	0.502000													20	75					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124232437	124232437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:124232437G>C	ENST00000276704.4	-	6	1100	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	350							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATTCTTCTGAGGATACAGT	0.413000													9	16					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117675	47117675	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:47117675C>G	ENST00000562435.1	-	9	1419	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	NETO2_ENST00000303155.5_Missense_Mutation_p.K338N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	345						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCCATGAGTCTTAGTGATTT	0.328000										HNSCC(25;0.065)			18	39					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107414394	107414394	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:107414394C>G	ENST00000340010.5	-	17	2162	c.1978G>C	c.(1978-1980)Gat>Cat	p.D660H	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	660	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAAGAAACATCAAGAAAGGAC	0.383000													9	28					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993506	52993506	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:52993506C>T	ENST00000259803.7	-	6	1020	c.809G>A	c.(808-810)aGt>aAt	p.S270N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	270						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGTTCTGCTACTGGACAATTT	0.493000													21	46					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561623	127561623	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:127561623C>T	ENST00000373580.3	+	4	522	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	174										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGCGCCACCTCAGTGAGCAGT	0.607000													25	61					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	877552	877552	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:877552G>C	ENST00000342066.3	+	9	989	c.906G>C	c.(904-906)caG>caC	p.Q302H	SAMD11_ENST00000478729.1_3'UTR	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	302						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTCGCCGCAGAATGCCCCTC	0.741000													3	13					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122042677	122042677	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:122042677G>A	ENST00000263707.5	-	1	106	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	3	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCGTGTGCCAGAAGAGCATGG	0.756000													5	5					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676186	11676186	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:11676186G>A	ENST00000423059.4	-	2	844	c.593C>T	c.(592-594)tCt>tTt	p.S198F		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 2.					integral to membrane				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)		AGAAAATTCAGACACGATGCA	0.587000										HNSCC(18;0.044)			11	28					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799226	47799226	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47799226C>T	ENST00000591416.1	-	14	2115	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	MBD1_ENST00000398493.1_Missense_Mutation_p.E506K|MBD1_ENST00000269471.5_Missense_Mutation_p.E493K|MBD1_ENST00000585595.1_Missense_Mutation_p.E587K|MBD1_ENST00000590208.1_Missense_Mutation_p.E562K|MBD1_ENST00000347968.3_Missense_Mutation_p.E506K|MBD1_ENST00000585672.1_Missense_Mutation_p.E512K|MBD1_ENST00000591535.1_Missense_Mutation_p.E493K|MBD1_ENST00000398488.1_Missense_Mutation_p.E460K|MBD1_ENST00000398495.2_Missense_Mutation_p.E531K|MBD1_ENST00000424334.2_Missense_Mutation_p.E613K|MBD1_ENST00000436910.1_Missense_Mutation_p.E493K|MBD1_ENST00000353909.3_Missense_Mutation_p.E513K|MBD1_ENST00000457839.2_Missense_Mutation_p.E587K|MBD1_ENST00000339998.6_Missense_Mutation_p.E516K|MBD1_ENST00000269468.5_Missense_Mutation_p.E562K|MBD1_ENST00000587605.1_Missense_Mutation_p.E460K|MBD1_ENST00000382948.5_Missense_Mutation_p.E562K|MBD1_ENST00000588937.1_Missense_Mutation_p.E493K|MBD1_ENST00000349085.2_Missense_Mutation_p.E460K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	562	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GCCTCTTCCTCTGGGGCCAAT	0.607000													39	98					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018181	61018181	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:61018181G>C	ENST00000406396.3	-	6	940	c.549C>G	c.(547-549)ttC>ttG	p.F183L	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	183					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGTAGGCTGTGAAACCGAATA	0.512000													42	108					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292711	219292711	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:219292711C>T	ENST00000248444.5	+	5	459	c.371C>T	c.(370-372)tCt>tTt	p.S124F	VIL1_ENST00000440053.1_Missense_Mutation_p.S124F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	124	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCGTGGCTTCTGGCATGAAG	0.617000													74	94					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860796	27860796	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:27860796G>A	ENST00000359611.2	-	1	167	c.132C>T	c.(130-132)gtC>gtT	p.V44V	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CGCCGGCCCCGACCCGCTCAG	0.657000													35	71					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104042	168104042	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:168104042C>G	ENST00000409195.1	+	9	6229	c.6140C>G	c.(6139-6141)tCt>tGt	p.S2047C	XIRP2_ENST00000409273.1_Missense_Mutation_p.S1825C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2047C|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1872					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAGACTATCTAATTCACAC	0.393000													11	29					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26091036	26091036	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:26091036C>G	ENST00000313735.6	-	21	2796	c.2563G>C	c.(2563-2565)Gag>Cag	p.E855Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	855	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTCTGTCTCTCAGGCTCTTCT	0.637000													12	29					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794657	30794657	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:30794657G>A	ENST00000262525.4	-	3	1199	c.992C>T	c.(991-993)tCg>tTg	p.S331L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S331*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTCAGCTCCGAGCTCTGGAT	0.627000													26	60					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44254803	44254803	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:44254803G>A	ENST00000601170.1	-	2	405	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	SMG9_ENST00000270066.6_Missense_Mutation_p.L31F			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	31					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GGCCCAGAGAGATTCTGGGGG	0.562000													51	90					0	0	1	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881473	111881473	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:111881473G>A	ENST00000393256.3	+	2	424	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000357757.2_Missense_Mutation_p.E51K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	51					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TCACGGAGGTGAAGGGGACAG	0.627000													31	43					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094809	9094809	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:9094809C>G	ENST00000383836.3	-	9	1652	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.E409Q	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	409					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTGACGGACTCTGTCGATCGA	0.488000			T	RAF1	pilocytic astrocytoma								21	58					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58204310	58204310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:58204310G>A	ENST00000537081.1	-	6	561	c.562C>T	c.(562-564)Cga>Tga	p.R188*	AVIL_ENST00000257861.3_Nonsense_Mutation_p.R195*			O75366	AVIL_HUMAN	advillin	195	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCCTGTCTCGAATATCCTTT	0.567000													34	72					0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46087920	46087920	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:46087920C>G	ENST00000263275.4	-	1	157	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	OPA3_ENST00000323060.3_Missense_Mutation_p.E35Q|OPA3_ENST00000544371.1_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	35					response to stimulus|visual perception	mitochondrion		p.E35*(2)		cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TTGAAGAACTCGCTTCGGCGG	0.587000													46	113					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748661	71748661	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:71748661C>T	ENST00000393524.2	-	1	771	c.38G>A	c.(37-39)aGa>aAa	p.R13K	PHLPP2_ENST00000568954.1_Missense_Mutation_p.R13K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R13K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R48K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R13K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	13						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAACCTACTTCTCCTATTCAA	0.388000													7	8					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562856	95562856	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:95562856G>C	ENST00000526495.1	-	25	4692	c.4401C>G	c.(4399-4401)atC>atG	p.I1467M	DICER1_ENST00000393063.1_Missense_Mutation_p.I1467M|DICER1_ENST00000527414.1_Missense_Mutation_p.I1467M|DICER1_ENST00000343455.3_Missense_Mutation_p.I1467M|DICER1_ENST00000556045.1_Missense_Mutation_p.I365M|DICER1_ENST00000541352.1_Missense_Mutation_p.I1467M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1467					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GAGAAAGAGAGATTTTCTTTA	0.353000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				17	44					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737372	248737372	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:248737372G>A	ENST00000328782.2	-	1	708	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TCCTGTGGATGAGATGCAGGA	0.552000													44	196					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447338	24447338	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:24447338G>C	ENST00000270800.1	-	7	1720	c.1682C>G	c.(1681-1683)tCt>tGt	p.S561C		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	561						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCTGAAAAGAGAATCCAGTTC	0.597000													15	83					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603383	31603383	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:31603383G>A	ENST00000376033.2	+	24	5632	c.5398G>A	c.(5398-5400)Gag>Aag	p.E1800K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1800K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1800	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			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						ACGAGACTGGGAGCTGCTTCC	0.617000													24	64					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47799766C>T	ENST00000591416.1	-	13	1953	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	MBD1_ENST00000398493.1_Missense_Mutation_p.E452K|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.E533K|MBD1_ENST00000590208.1_Missense_Mutation_p.E508K|MBD1_ENST00000347968.3_Missense_Mutation_p.E452K|MBD1_ENST00000585672.1_Missense_Mutation_p.E458K|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Missense_Mutation_p.E477K|MBD1_ENST00000424334.2_Missense_Mutation_p.E559K|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Missense_Mutation_p.E459K|MBD1_ENST00000457839.2_Missense_Mutation_p.E533K|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.E508K|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.E508K|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000349085.2_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	508					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E533*(2)|p.E508*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGTCCACTCGTCCTGGGTA	0.607000													29	58					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791042	8791042	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:8791042C>G	ENST00000405863.1	+	3	1370	c.459C>G	c.(457-459)ttC>ttG	p.F153L	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.F36L	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	153	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GTGTTTATTTCAGGCATAATT	0.413000													13	34					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78285322	78285322	+	Translation_Start_Site	SNP	A	A	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:78285322A>C	ENST00000238561.5	+	2	100	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	ADCK1_ENST00000341211.5_Start_Codon_SNP_p.M1L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	1						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATCTGGCGACATGGCCAGAAA	0.438000													20	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066585	9066585	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:9066585C>T	ENST00000397910.4	-	3	21064	c.20861G>A	c.(20860-20862)aGa>aAa	p.R6954K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6956	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GCTGGTCTCTCTCAGTCCAGG	0.448000													42	81					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18634520	18634520	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:18634520G>T	ENST00000449552.2	+	5	1823	c.339G>T	c.(337-339)aaG>aaT	p.K113N	TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395672.2_Missense_Mutation_p.K113N|TRIM16L_ENST00000571708.1_Missense_Mutation_p.K113N|TRIM16L_ENST00000395902.3_Missense_Mutation_p.K167N|TRIM16L_ENST00000572555.1_Missense_Mutation_p.K113N|TRIM16L_ENST00000395671.4_Missense_Mutation_p.K113N			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	113						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AGAACTATAAGAAAAAGCTCC	0.453000													29	57					1.62565e-12	1.71787e-12	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85707275	85707275	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:85707275C>T	ENST00000322366.6	-	24	4326	c.3919G>A	c.(3919-3921)Gaa>Aaa	p.E1307K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E1307K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1307						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			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)		ACCACCCCTTCGGATTTTGCA	0.378000													16	29					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096490	107096490	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:107096490C>T	ENST00000261058.1	+	1	303	c.56C>T	c.(55-57)tCa>tTa	p.S19L		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	19										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGTGGACTTCAAATCTCTCC	0.418000													41	67					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804375	21804375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:21804375G>A	ENST00000449193.2	-	4	4629	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.Q714*	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		GGAGGTGTCTGAAGGACAGGT	0.428000													31	88					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279706	32279706	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:32279706G>A	ENST00000360482.2	-	2	1358	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	SPOCD1_ENST00000533231.1_Missense_Mutation_p.S410L|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S410L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	410					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAATGGGCCTGAGCAGGCCCT	0.627000													6	26					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456783	25456783	+	RNA	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:25456783G>T	ENST00000424208.1	+	0	2414				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						ACTTGCATCAGGACCAATGGA	0.592000													7	12					0.00198382	0.00201121	1	1	0
FBF1	85302	broad.mit.edu	37	17	73909839	73909839	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:73909839G>A	ENST00000586717.1	-	27	3419	c.3146C>T	c.(3145-3147)tCt>tTt	p.S1049F	FBF1_ENST00000319129.5_Missense_Mutation_p.S1049F|FBF1_ENST00000389570.4_Missense_Mutation_p.S1050F			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	1049										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CACGAGGCTAGAGGGCAGGTC	0.662000													10	29					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46872020	46872020	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:46872020C>T	ENST00000243167.8	+	7	1015	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	311					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CACTGTGCCTCCCTTGCCCTT	0.657000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540252	113540252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:113540252G>A	ENST00000505019.1	-	6	1071	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	C4orf21_ENST00000445203.2_Nonsense_Mutation_p.Q285*|C4orf21_ENST00000309071.5_Nonsense_Mutation_p.Q316*	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	316										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTTCTGATTGATGCTGGTAG	0.373000													15	62					0	0	1	0	0
CCNYL1	151195	broad.mit.edu	37	2	208606962	208606962	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:208606962G>C	ENST00000295414.3	+	7	746	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	CCNYL1_ENST00000392209.3_Missense_Mutation_p.E109Q|CCNYL1_ENST00000339882.5_Missense_Mutation_p.E128Q			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	179	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AAAAGTTCCAGAGGAATACTT	0.323000													12	10					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	428428	428428	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:428428C>T	ENST00000432829.2	+	35	4517	c.4201C>T	c.(4201-4203)Ctg>Ttg	p.L1401L	DOCK8_ENST00000382329.1_Silent_p.L936L|DOCK8_ENST00000453981.1_Silent_p.L1469L|DOCK8_ENST00000469391.1_Silent_p.L1369L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1469	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGTGAATTCTCTGAACTGTGA	0.512000													13	37					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789738	96789738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:96789738G>A	ENST00000342380.2	-	9	1146	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	383					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GACTGCTCCTGAGCAACACCG	0.627000													33	80					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21459805	21459805	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:21459805C>T	ENST00000607545.1	+	0	48					NR_027026.1																						TCAGACGCATCGGGACCGGAC	0.642000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	58					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629053	187629053	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:187629053C>T	ENST00000441802.2	-	2	2138	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	643	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTGATTCTCAGACTGTGGA	0.423000										HNSCC(5;0.00058)			7	33					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736677	12736677	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:12736677G>A	ENST00000380682.1	+	16	4238	c.3732G>A	c.(3730-3732)ggG>ggA	p.G1244G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1244					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTCCCTGGGGAAGCACTTGA	0.602000													93	43					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134146946	134146946	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:134146946G>C	ENST00000220616.4	+	48	8255	c.8215G>C	c.(8215-8217)Gag>Cag	p.E2739Q	TG_ENST00000542445.1_Missense_Mutation_p.E1109Q|TG_ENST00000377869.1_Missense_Mutation_p.E2682Q|TG_ENST00000519543.1_Missense_Mutation_p.E872Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2739					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGTCAGCAGAGAGTGAAGA	0.547000													19	56					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845742	49845742	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:49845742C>G	ENST00000377214.4	-	10	1554	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	TEAD2_ENST00000593945.1_Missense_Mutation_p.E399Q|TEAD2_ENST00000311227.2_Missense_Mutation_p.E395Q|TEAD2_ENST00000539846.1_Missense_Mutation_p.E267Q|TEAD2_ENST00000598810.1_Missense_Mutation_p.E399Q|TEAD2_ENST00000601519.1_Missense_Mutation_p.E398Q			Q15562	TEAD2_HUMAN	TEA domain family member 2	395	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATGTATCGCTCAGGCAGCTGC	0.607000													24	65					0	0	1	0	0
TMA7	51372	broad.mit.edu	37	3	48482013	48482013	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:48482013G>T	ENST00000438607.2	+	3	175	c.135G>T	c.(133-135)gcG>gcT	p.A45A	RP11-24C3.2_ENST00000438872.1_RNA	NM_015933.3	NP_057017.1			translation machinery associated 7 homolog (S. cerevisiae)											lung(1)	1						AGCTAAAAGCGAAGGCCGCGG	0.567000													4	19					2.56e-06	2.62953e-06	1	1	0
SLC5A2	6524	broad.mit.edu	37	16	31497544	31497544	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:31497544C>G	ENST00000330498.3	+	5	541	c.522C>G	c.(520-522)atC>atG	p.I174M		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	174					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTGGAACATCTATGCCTCCG	0.602000													29	81					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31358871	31358871	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:31358871G>C	ENST00000460581.2	+	10	1737	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000475087.1_Intron|COCH_ENST00000382493.4_Silent_p.L360L|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Silent_p.L509L|COCH_ENST00000216361.4_Silent_p.L509L			O43405	COCH_HUMAN	cochlin	509	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TGGATGACCTGAAAGATATGG	0.388000													10	29					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123920070	123920070	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:123920070G>C	ENST00000373855.1	+	29	4809	c.4549G>C	c.(4549-4551)Gaa>Caa	p.E1517Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.E965Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E965Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1517Q|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1517					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CAAGCAAGAAGAAATCTTGAA	0.408000													20	47					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654559	150654559	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:150654559G>C	ENST00000392968.2	-	3	1780	c.660C>G	c.(658-660)ctC>ctG	p.L220L	KCNH2_ENST00000262186.5_Silent_p.L316L|KCNH2_ENST00000430723.3_Silent_p.L316L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	316					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGGTGGAGTTGAGCAAGCCGC	0.637000													10	39					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91647672	91647672	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:91647672C>T	ENST00000518868.1	+	11	1563	c.873C>T	c.(871-873)atC>atT	p.I291I	C14orf159_ENST00000256324.10_Silent_p.I291I|C14orf159_ENST00000525393.2_Silent_p.I162I|C14orf159_ENST00000522322.1_Silent_p.I286I|C14orf159_ENST00000523816.1_Silent_p.I286I|C14orf159_ENST00000412671.2_Silent_p.I291I|C14orf159_ENST00000521077.2_Silent_p.I291I|C14orf159_ENST00000428926.2_Silent_p.I286I|C14orf159_ENST00000520328.1_Silent_p.I274I|C14orf159_ENST00000523771.1_Silent_p.I286I			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	286						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ACTACAGCATCGCGTCAGTCT	0.493000													28	42					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747216	62747216	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62747216C>T	ENST00000377871.3	-	7	1508	c.1242G>A	c.(1240-1242)gtG>gtA	p.V414V	SLC22A6_ENST00000458333.2_Silent_p.V414V|SLC22A6_ENST00000360421.4_Silent_p.V414V|SLC22A6_ENST00000421062.2_Silent_p.V414V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	414					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTGGGGTATCACCCCATTGA	0.612000													25	49					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68334824	68334824	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:68334824G>C	ENST00000297770.4	-	11	1444	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	CPA6_ENST00000297769.4_Missense_Mutation_p.P166R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	410					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GAGCATCTCTGGGAGTAAAAA	0.438000													35	72					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26890912	26890912	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:26890912G>C	ENST00000308360.7	-	4	675	c.300C>G	c.(298-300)atC>atG	p.I100M	PIGS_ENST00000395346.2_Missense_Mutation_p.I92M|PIGS_ENST00000543734.1_Missense_Mutation_p.I39M	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	100					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AACGGCATTTGATTTTCATTT	0.522000													45	89					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382149	68382149	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:68382149C>T	ENST00000361478.1	-	2	1310	c.933G>A	c.(931-933)gaG>gaA	p.E311E	PJA1_ENST00000374584.3_Silent_p.E123E|PJA1_ENST00000374583.1_Silent_p.E311E|PJA1_ENST00000374571.4_Silent_p.E256E	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	311							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CACTTGAACTCTCGCCTCTCC	0.547000													12	4					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155596208	155596208	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:155596208C>T	ENST00000297261.2	-	3	925	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	259					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCGCGGCTCCCGCGTCTCG	0.711000													3	9					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973721	44973721	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:44973721C>T	ENST00000340446.4	-	1	2761	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	824						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTACAGTTCAGGAGGACGT	0.393000													6	25					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8217903	8217903	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:8217903G>A	ENST00000539824.1	+	6	693	c.319G>A	c.(319-321)Gag>Aag	p.E107K	SH3TC1_ENST00000245105.3_Missense_Mutation_p.E183K			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	183							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTTGCCCAGTGAGGAGGAGGA	0.607000													17	17					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25203475	25203475	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:25203475G>A	ENST00000360031.2	+	12	1226	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	ENTPD6_ENST00000376652.4_Splice_Site_p.A349A|ENTPD6_ENST00000354989.5_Splice_Site_p.A332A|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Splice_Site_p.A315A	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	349						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TGTCCCCAGCGGCAAGCCTGC	0.592000													41	94					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430566	57430566	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:57430566C>G	ENST00000442789.2	-	22	2551	c.2264G>C	c.(2263-2265)aGa>aCa	p.R755T	MYO1A_ENST00000300119.3_Missense_Mutation_p.R755T|MYO1A_ENST00000544473.1_Missense_Mutation_p.R593T	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	755	IQ 3.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTTCCACCCTCTCACAAAAGC	0.463000													55	130					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46404863	46404863	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:46404863C>T	ENST00000322217.5	-	2	255	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	57	Myb-like.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GCGATGCCGTCCCACACGCGC	0.667000											OREG0032108	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	8	29					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353621	133353621	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:133353621C>T	ENST00000204726.3	-	20	4336	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	GOLGA3_ENST00000450791.2_Missense_Mutation_p.E1260K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1260K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1260	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCGGGCCTCGGCCAGCTCT	0.587000													12	49					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300208	99300208	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:99300208G>T	ENST00000408927.3	+	5	515	c.402G>T	c.(400-402)caG>caT	p.Q134H	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q135H|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q135H	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	134							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTGGTGCACAGATTGTAATTG	0.378000			T	NUP98	T-ALL								19	63					1.50039e-11	1.57484e-11	1	1	0
SOX2	6657	broad.mit.edu	37	3	181430441	181430441	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:181430441G>A	ENST00000325404.1	+	1	720	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	SOX2_ENST00000431565.2_Missense_Mutation_p.R98Q	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	98					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			AAGCGGCTGCGAGCGCTGCAC	0.592000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						18	50					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2110177	2110177	+	Silent	SNP	G	G	T	rs11558401		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:2110177G>T	ENST00000355272.6	-	28	3428	c.3222C>A	c.(3220-3222)gtC>gtA	p.V1074V	AP3D1_ENST00000350812.6_Silent_p.V843V|AP3D1_ENST00000356926.4_Silent_p.V971V|AP3D1_ENST00000345016.5_Silent_p.V1012V	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1012					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCGCCATGACGATGCTCT	0.637000													33	72					4.0492e-12	4.26807e-12	1	1	0
AZI2	64343	broad.mit.edu	37	3	28378243	28378243	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:28378243C>T	ENST00000479665.1	-	5	1104	c.573G>A	c.(571-573)caG>caA	p.Q191Q	AZI2_ENST00000457172.1_Silent_p.Q191Q|AZI2_ENST00000334100.6_Silent_p.Q191Q|AZI2_ENST00000420543.2_Silent_p.Q191Q|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	191	Interaction with TBK1.					mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GTTTGGCTTTCTGTAGTTCTA	0.343000													17	15					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124799530	124799530	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:124799530C>T	ENST00000334705.7	+	13	1354	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	FAM91A1_ENST00000521166.1_Silent_p.L370L	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	370										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGCCTGAGTCTGTCTACAGG	0.403000													13	34					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175996740	175996740	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:175996740G>A	ENST00000367669.3	-	15	2211	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	RFWD2_ENST00000308769.8_Missense_Mutation_p.S542F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	566					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTATCTGGAAGAGGGGCTGAA	0.438000													15	37					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7559504	7559504	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:7559504C>G	ENST00000379802.3	+	4	809	c.468C>G	c.(466-468)atC>atG	p.I156M	DSP_ENST00000418664.2_Missense_Mutation_p.I156M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	156	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATAAAGCCATCAGTGTCCCTC	0.512000													36	205					0	0	1	0	0
PRR3	80742	broad.mit.edu	37	6	30529832	30529832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:30529832C>T	ENST00000376560.3	+	3	850	c.391C>T	c.(391-393)Cga>Tga	p.R131*	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Nonsense_Mutation_p.R110*	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	131							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						GAGAAACCCTCGAAGGCTCAA	0.547000													18	62					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2276671	2276671	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:2276671G>T	ENST00000268989.3	+	17	2141	c.1964G>T	c.(1963-1965)tGg>tTg	p.W655L	SGSM2_ENST00000426855.2_Missense_Mutation_p.W610L|SGSM2_ENST00000574563.1_Missense_Mutation_p.W610L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	610	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TTGGCAGAGTGGAAGGCCTGC	0.657000													17	55					5.01169e-05	5.10163e-05	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63058251	63058251	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:63058251G>A	ENST00000263991.5	+	7	1074	c.592G>A	c.(592-594)Gag>Aag	p.E198K	EHBP1_ENST00000405289.1_Missense_Mutation_p.E198K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E198K|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000354487.3_Missense_Mutation_p.E198K|EHBP1_ENST00000431489.1_Missense_Mutation_p.E198K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	198						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATGATGATGAGAACAGAGT	0.348000													10	29					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678769	149678769	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:149678769G>C	ENST00000344229.3	+	11	1726	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	RNF13_ENST00000361785.6_Missense_Mutation_p.E223Q|RNF13_ENST00000392894.3_Missense_Mutation_p.E342Q	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	342					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCAGACTATGAGGAAGACGA	0.438000													14	30					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14943536	14943536	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:14943536G>A	ENST00000261167.2	-	10	1396	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	388					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTGCTGCTGTGAAGAAGCAGT	0.507000													18	49					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011119	40011119	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40011119C>G	ENST00000319121.3	-	2	1060	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	334						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TGTATATTCTCAGCTCTCAGA	0.473000													19	47					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049726	63049726	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:63049726C>T	ENST00000439174.2	-	2	649	c.404G>A	c.(403-405)gGa>gAa	p.G135E	GNA13_ENST00000541118.1_Missense_Mutation_p.G40E	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	135					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TTCCACCATTCCTTGGGCTGC	0.483000													29	60					0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80911320	80911320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:80911320G>T	ENST00000320672.4	-	4	464	c.254C>A	c.(253-255)tCa>tAa	p.S85*	SSBP2_ENST00000514493.1_Nonsense_Mutation_p.S85*|SSBP2_ENST00000509053.1_Nonsense_Mutation_p.S85*|SSBP2_ENST00000515395.1_Nonsense_Mutation_p.S85*|SSBP2_ENST00000505980.1_Nonsense_Mutation_p.S85*	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	85					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TGCTTCACTTGAGTGTTCACA	0.343000													8	10					0.0581538	0.0583877	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26313003	26313003	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:26313003G>A	ENST00000265944.5	+	9	950	c.784G>A	c.(784-786)Gac>Aac	p.D262N	MYO3A_ENST00000543632.1_Missense_Mutation_p.D262N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	262	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAATTCAATGACTTCATAAG	0.358000													26	98					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078593	10078593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:10078593G>C	ENST00000264828.3	-	61	4476	c.4391C>G	c.(4390-4392)tCa>tGa	p.S1464*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1464	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGACCCTTTTGAGCCTTTCTG	0.587000													40	107					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46783615	46783615	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:46783615C>T	ENST00000529230.1	-	32	4202	c.4156G>A	c.(4156-4158)Gca>Aca	p.A1386T	CKAP5_ENST00000312055.5_Missense_Mutation_p.A1386T|CKAP5_ENST00000415402.1_Missense_Mutation_p.A1386T|CKAP5_ENST00000354558.3_Missense_Mutation_p.A1386T			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1386					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTGTTGAGTGCAGCATTGCGT	0.453000													18	53					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161507449	161507449	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:161507449T>A	ENST00000392142.4	+	8	2559	c.2411T>A	c.(2410-2412)cTc>cAc	p.L804H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.L804H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L804H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L804H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	804					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTGAAGGAGCTCTTCCATGAA	0.438000													11	15					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32651297	32651297	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:32651297G>T	ENST00000266086.4	-	1	31	c.20C>A	c.(19-21)cCc>cAc	p.P7H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	7					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TATGGTGCTGGGGCTAACCGT	0.507000											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	71	241					3.71514e-35	4.03876e-35	1	1	0
SCEL	8796	broad.mit.edu	37	13	78187050	78187050	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:78187050C>G	ENST00000535157.1	+	21	1406	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	SCEL_ENST00000349847.3_Missense_Mutation_p.I454M|SCEL_ENST00000377246.3_Missense_Mutation_p.I434M|SCEL_ENST00000469982.1_3'UTR	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	454	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAATCTTATCAAAGTGATCC	0.264000													13	18					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257008	69257008	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:69257008G>C	ENST00000439696.2	-	2	560	c.259C>G	c.(259-261)Cga>Gga	p.R87G	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R87G	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	87					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGCGGTCTCGGAAGCGGCTG	0.677000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	39					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140166601	140166601	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:140166601C>T	ENST00000343053.4	+	11	1751	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		CCTTGCGCTGCTGGCCGACGA	0.612000													31	52					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94461693	94461693	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:94461693C>T	ENST00000370225.3	-	49	6874	c.6788G>A	c.(6787-6789)cGa>cAa	p.R2263Q	ABCA4_ENST00000536513.1_Missense_Mutation_p.R533Q|ABCA4_ENST00000535881.1_Missense_Mutation_p.R382Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2263			R -> L (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R2263P(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCAGCAGCTCGAGGGTGCAG	0.527000													13	22					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387200	44387200	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:44387200C>T	ENST00000371477.3	+	9	1406	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	369	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAGAACCTCATGGCCCTCA	0.438000													13	34					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793746	52793746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:52793746G>A	ENST00000439461.1	+	4	745	c.702G>A	c.(700-702)tgG>tgA	p.W234*	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Nonsense_Mutation_p.W249*|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Nonsense_Mutation_p.W249*	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CAGAACATTGGAGAATTCGTA	0.443000													18	42					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298907	65298907	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:65298907C>A	ENST00000377990.2	+	3	880	c.677C>A	c.(676-678)tCc>tAc	p.S226Y	CEP68_ENST00000546106.1_Missense_Mutation_p.S226Y|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.S226Y|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	226					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGGTCTCCTCCTCCCTGGAG	0.647000													20	59					1.96292e-10	2.04485e-10	1	1	0
MED12	9968	broad.mit.edu	37	X	70357410	70357410	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:70357410G>A	ENST00000374102.1	+	40	5808		c.e40-1		MED12_ENST00000374080.3_Silent_p.Q1917Q|MED12_ENST00000333646.6_Silent_p.Q1920Q			Q93074	MED12_HUMAN	mediator complex subunit 12						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			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)					CCCTTTAGCAGAGTCAGGGCA	0.498000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						5	4					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84367990	84367990	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:84367990C>T	ENST00000295488.3	-	4	1552	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	464	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAACCAACCTCGTCTACAACA	0.328000								Other identified genes with known or suspected DNA repair function					32	67					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122966529	122966529	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:122966529C>T	ENST00000543897.1	-	7	2479	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E42K|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E280K			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	280						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AATCTTTCTTCTACTTCTTCT	0.388000													10	19					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12302025	12302025	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:12302025G>C	ENST00000261349.4	-	14	3133	c.3057C>G	c.(3055-3057)ctC>ctG	p.L1019L	LRP6_ENST00000543091.1_Silent_p.L1019L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1019	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATCAATGCTGAGGTCATAGG	0.423000													82	187					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13059191	13059191	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:13059191C>T	ENST00000506447.1	+	21	4448	c.4368C>T	c.(4366-4368)ttC>ttT	p.F1456F	CEP192_ENST00000325971.8_Silent_p.F860F|CEP192_ENST00000430049.2_Silent_p.F981F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1051										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGGGGTTTTCAGATGCACAT	0.448000													36	36					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7319382	7319382	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:7319382C>G	ENST00000302926.2	+	6	1663	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	NLGN2_ENST00000575301.1_Silent_p.L530L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	530					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGTCATGCTCAGTGCCGTGG	0.632000													25	39					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156228931	156228931	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156228931G>A	ENST00000361813.5	-	16	2451	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	769					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAAAGCTGCGGATGCAGCAGA	0.612000													14	53					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934718	56934718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:56934718C>T	ENST00000333201.9	+	5	901	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	ZNF583_ENST00000291598.7_Nonsense_Mutation_p.Q231*|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TACTCTTCATCAGAGAATTCA	0.383000													16	39					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50330208	50330208	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:50330208G>A	ENST00000336089.4	-	2	96	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	245							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGTCTGGGGACCATGGGAA	0.562000													25	80					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402682	38402682	+	RNA	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:38402682C>A	ENST00000426402.2	-	0	326																											GCCGTTACTTCCTTCAGCAAG	0.493000													35	60					6.97489e-18	7.49755e-18	1	1	0
SUN2	25777	broad.mit.edu	37	22	39144722	39144722	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:39144722C>T	ENST00000405510.1	-	8	1039	c.681G>A	c.(679-681)acG>acA	p.T227T	SUN2_ENST00000216064.4_Silent_p.T227T|SUN2_ENST00000406622.1_Silent_p.T227T|SUN2_ENST00000405018.1_Silent_p.T248T|SUN2_ENST00000411587.2_Silent_p.T216T|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	227					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCTCACCATACGTCAGGCACG	0.647000													59	125					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115268894	115268894	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:115268894C>T	ENST00000438362.2	-	14	2094	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L	CSDE1_ENST00000261443.5_Silent_p.L495L|CSDE1_ENST00000358528.4_Silent_p.L526L|CSDE1_ENST00000339438.6_Silent_p.L495L|CSDE1_ENST00000530886.1_Silent_p.L396L|CSDE1_ENST00000534699.1_Silent_p.L526L|CSDE1_ENST00000369530.1_Silent_p.L541L	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	526	CSD 7.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTATCCTTCAGAGTTGCCA	0.408000													9	29					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14288452	14288452	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:14288452C>G	ENST00000340736.6	-	3	472	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	LPHN1_ENST00000361434.3_Missense_Mutation_p.E59Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	59	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCATTCTCCACCATGATG	0.632000													63	129					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86371723	86371723	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:86371723C>G	ENST00000410111.3	-	15	2332	c.1945G>C	c.(1945-1947)Gat>Cat	p.D649H	IMMT_ENST00000442664.2_Missense_Mutation_p.D648H|IMMT_ENST00000409051.2_Missense_Mutation_p.D602H|IMMT_ENST00000449247.2_Missense_Mutation_p.D638H|IMMT_ENST00000254636.5_Missense_Mutation_p.D550H	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	649						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTTTCATCAATCATTGCT	0.532000													32	60					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114290071	114290071	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:114290071G>C	ENST00000309235.5	+	2	554	c.396G>C	c.(394-396)caG>caC	p.Q132H	ZNF483_ENST00000358151.4_Missense_Mutation_p.Q132H|ZNF483_ENST00000355824.3_Missense_Mutation_p.Q132H|ZNF483_ENST00000374374.3_Missense_Mutation_p.Q132H	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	132	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTTGACCCAGATGCTTGAAG	0.438000													17	32					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555306	44555306	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:44555306G>A	ENST00000330682.2	-	1	1143	c.908C>T	c.(907-909)cCa>cTa	p.P303L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.P303Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGGAGCGCTGGCGCGGAGAG	0.637000													56	846					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464574	25464574	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:25464574C>T	ENST00000376351.3	+	1	584	c.225C>T	c.(223-225)gcC>gcT	p.A75A	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	75						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAAACTCGCCGAGGAGGTGC	0.687000													19	67					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33454098	33454098	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:33454098G>C	ENST00000158009.5	+	2	362	c.247G>C	c.(247-249)Gat>Cat	p.D83H		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	83										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CTGCAGCTCTGATGAGACCAG	0.562000													49	102					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18054746	18054746	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:18054746C>G	ENST00000205890.5	+	40	8030	c.7692C>G	c.(7690-7692)ctC>ctG	p.L2564L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2564	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACTCTACGCTCAACTCTGAGC	0.632000													29	83					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40085528	40085528	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:40085528C>T	ENST00000181839.4	+	6	3052	c.2447C>T	c.(2446-2448)tCa>tTa	p.S816L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.S816L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	816	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACATAAAGTCATTTATGAGA	0.333000													28	70					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109325	101109325	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:101109325C>G	ENST00000273990.2	-	3	306		c.e3-1		RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like						negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TAGTCAAAATCTGTAAGAAAT	0.343000													8	23					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2591227	2591227	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:2591227G>A	ENST00000358864.1	+	12	1591	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	526						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCCCTGATGGATGACGTCCA	0.468000													3	19					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142720498	142720498	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:142720498C>G	ENST00000473835.2	+	1	118	c.28C>G	c.(28-30)Cag>Gag	p.Q10E	U2SURP_ENST00000493598.2_Missense_Mutation_p.Q10E|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	10					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGGCGGATCTCAGAAGGCCAG	0.577000													12	35					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880952	71880952	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:71880952G>A	ENST00000307864.1	-	4	523	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	AIFM2_ENST00000373248.1_Missense_Mutation_p.H104Y	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	104					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						AGGATAAGATGAGAGAAGGGC	0.527000													33	18					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754575	110754575	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:110754575C>T	ENST00000369787.3	+	1	481	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	KCNC4_ENST00000438661.2_Missense_Mutation_p.R152C|KCNC4_ENST00000413138.3_Missense_Mutation_p.R152C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	152					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGGCAGCACCGCGACGCCGA	0.716000													93	28					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141259401	141259401	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:141259401G>C	ENST00000286364.3	+	5	512	c.477G>C	c.(475-477)ctG>ctC	p.L159L	RASA2_ENST00000452898.1_Silent_p.L159L			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	159	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AATTAAAACTGAATGAACTGA	0.308000													11	23					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662186	24662186	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:24662186G>A	ENST00000556387.1	-	7	1295	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	TM9SF1_ENST00000524835.1_Missense_Mutation_p.S125L|TM9SF1_ENST00000261789.4_Missense_Mutation_p.S212L|TM9SF1_ENST00000396854.4_Missense_Mutation_p.S212L|TM9SF1_ENST00000530611.1_Missense_Mutation_p.S421L|TM9SF1_ENST00000528669.1_Missense_Mutation_p.S212L			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	212					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ACGCTCCACTGAAGTCTCAGA	0.547000													13	31					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									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)		ATCGCTGAAAGGGGTAAAGGA	0.378000													10	131					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138966756	138966756	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:138966756G>C	ENST00000473989.3	+	14	2073	c.2073G>C	c.(2071-2073)gtG>gtC	p.V691V	UBN2_ENST00000288561.8_Silent_p.V608V	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTTAGGAGGTGATGGTAAAGA	0.353000													16	51					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750868	50750868	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:50750868G>A	ENST00000300589.2	+	6	2718	c.2613G>A	c.(2611-2613)caG>caA	p.Q871Q		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	871					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CATGCAGGCAGAACTTCTTGG	0.488000													43	100					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205819036	205819036	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:205819036C>T	ENST00000367136.4	-	1	209	c.165G>A	c.(163-165)ctG>ctA	p.L55L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	55						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTTCACCTTTCAGCGCCTCTT	0.612000													19	55					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79724924	79724924	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:79724924C>G	ENST00000275034.4	-	15	1566	c.1399G>C	c.(1399-1401)Gat>Cat	p.D467H		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	467					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AATACCTCATCTTCATGACCC	0.363000													12	23					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719073	155719073	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:155719073T>C	ENST00000510397.1	+	3	441	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	RBM46_ENST00000514866.1_Missense_Mutation_p.Y88H|RBM46_ENST00000281722.3_Missense_Mutation_p.Y88H	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	88	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGGAAGATATATGAATTTCG	0.373000													10	43					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22837883	22837883	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:22837883G>C	ENST00000266517.4	+	8	1443	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	452					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAAGTGCCTGAGTAAAGAAG	0.318000													9	20					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744740	37744740	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:37744740T>G	ENST00000539465.1	+	16	3304	c.2711T>G	c.(2710-2712)cTg>cGg	p.L904R	FRMPD1_ENST00000377765.3_Missense_Mutation_p.L904R|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	904						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCCTTGGGGCTGCTGGCTCCT	0.607000													21	42					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696153	60696153	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:60696153C>T	ENST00000005286.4	+	4	740	c.587C>T	c.(586-588)tCa>tTa	p.S196L	TMEM132A_ENST00000453848.2_Missense_Mutation_p.S196L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	196						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGGTTCTCACAGGCCTCC	0.677000													41	65					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423352	26423352	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:26423352C>G	ENST00000335473.7	+	43	7662	c.7412C>G	c.(7411-7413)tCa>tGa	p.S2471*	MYO18B_ENST00000407587.2_Nonsense_Mutation_p.S2472*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.S2471*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2471						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCACAGCGTTCAAGCATCCAC	0.547000													32	71					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242202139	242202139	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:242202139C>G	ENST00000391975.1	-	5	664	c.437G>C	c.(436-438)aGa>aCa	p.R146T	HDLBP_ENST00000391976.2_Missense_Mutation_p.R146T|HDLBP_ENST00000310931.4_Missense_Mutation_p.R146T|HDLBP_ENST00000427183.2_Missense_Mutation_p.R182T	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	146					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGTCTGCAGTCTAGCAACAAT	0.547000													20	21					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46023127	46023127	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:46023127C>T	ENST00000296137.2	-	3	302	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E33K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	33					transport	integral to membrane	metal ion binding|protein binding	p.E33*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGATGGGTTCCCCTGCTTCC	0.398000													9	37					0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28113131	28113131	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:28113131G>A	ENST00000302188.3	-	1	834	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	RBKS_ENST00000444339.2_Silent_p.L28L	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	28					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AACCTGACCAGGTCGGTCATG	0.667000													15	53					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990828	47990828	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:47990828C>T	ENST00000371741.4	-	2	1435	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	423					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTGTCTCTTCTGCTCCTTAT	0.498000													25	64					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700974	44700974	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:44700974G>T	ENST00000396056.2	+	4	1354	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.Q213H	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	373					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCTTTACCCAGAGTGCAAATC	0.453000													17	31					1.5739e-10	1.64233e-10	1	1	0
DST	667	broad.mit.edu	37	6	56357048	56357048	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:56357048C>T	ENST00000370754.5	-	85	20640	c.20641G>A	c.(20641-20643)Gat>Aat	p.D6881N	DST_ENST00000421834.2_Missense_Mutation_p.D4615N|DST_ENST00000446842.2_Missense_Mutation_p.D6377N|DST_ENST00000361203.3_Missense_Mutation_p.D6592N|DST_ENST00000370788.2_Missense_Mutation_p.D4506N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D6703N|DST_ENST00000244364.6_Missense_Mutation_p.D4289N			Q03001	DYST_HUMAN	dystonin	6701					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCTTGCATCATCCAAAGAT	0.368000													12	26					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17435670	17435670	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:17435670C>T	ENST00000159087.4	-	17	3345	c.3187G>A	c.(3187-3189)Gag>Aag	p.E1063K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1063						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GACCCAGGCTCAGCCCGGGTG	0.706000													48	97					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47796389	47796389	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47796389C>G	ENST00000339998.6	-	14	1783	c.1645G>C	c.(1645-1647)Gac>Cac	p.D549H	MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000349085.2_Intron	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	0	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTCTAAATGTCAATCAAATAA	0.358000													18	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629518	179629518	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:179629518G>C	ENST00000589042.1	-	42	9948	c.9724C>G	c.(9724-9726)Ctg>Gtg	p.L3242V	TTN_ENST00000342175.6_Missense_Mutation_p.L3196V|TTN_ENST00000591111.1_Missense_Mutation_p.L3242V|TTN_ENST00000460472.2_Missense_Mutation_p.L3196V|TTN_ENST00000359218.5_Missense_Mutation_p.L3196V|TTN_ENST00000342992.6_Missense_Mutation_p.L3242V|TTN_ENST00000360870.5_Missense_Mutation_p.L3242V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2972	Ig-like 19.						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)			AGCTCCTGCAGAACTTGGGGC	0.478000													16	84					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214585	156214585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156214585C>A	ENST00000335852.1	-	6	1024	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Nonsense_Mutation_p.E240*|PAQR6_ENST00000356983.2_Nonsense_Mutation_p.E137*|PAQR6_ENST00000368270.1_Nonsense_Mutation_p.E219*|PAQR6_ENST00000292291.5_Nonsense_Mutation_p.E243*	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	243						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCCAGCCTTTCAGGCAGGTGG	0.647000													20	46					2.37509e-13	2.51836e-13	1	1	0
MYL6	4637	broad.mit.edu	37	12	56552240	56552240	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:56552240G>A	ENST00000536128.1	+	1	95	c.55G>A	c.(55-57)Gag>Aag	p.E19K	MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.E19K|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGGCAGGAAGAGACGGGTGG	0.632000													11	18					0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41245949	41245949	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:41245949C>T	ENST00000446533.3	+	1	603	c.294C>T	c.(292-294)ttC>ttT	p.F98F	CHAC1_ENST00000444189.2_Silent_p.F98F	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	98					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTGTGGGCTTCGTGCGCGGCT	0.652000													13	46					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43388991	43388991	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:43388991G>C	ENST00000296088.7	+	7	1544	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	SNRK_ENST00000454177.1_Missense_Mutation_p.D414H|SNRK_ENST00000429705.2_Missense_Mutation_p.D414H|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000437827.1_Missense_Mutation_p.D208H	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	414					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AGCTAAGAAAGATGACCTCCC	0.577000													10	15					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841717	157841717	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:157841717G>A	ENST00000464171.1	+	3	382	c.257G>A	c.(256-258)cGt>cAt	p.R86H	RSRC1_ENST00000475278.2_Missense_Mutation_p.R86H|RSRC1_ENST00000312179.6_Missense_Mutation_p.R86H|RSRC1_ENST00000480820.1_Missense_Mutation_p.R86H|RSRC1_ENST00000295930.3_Missense_Mutation_p.R86H	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	86	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGTCGAAGTCGTTCAAGGGGT	0.383000													23	59					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454538	114454538	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:114454538G>C	ENST00000394779.3	-	23	3654	c.3410C>G	c.(3409-3411)tCa>tGa	p.S1137*	C9orf84_ENST00000374287.3_Nonsense_Mutation_p.S1176*|C9orf84_ENST00000394777.4_Nonsense_Mutation_p.S1102*|C9orf84_ENST00000318737.4_Nonsense_Mutation_p.S1176*	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1176										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAAAAAACTTGAGATTTCTTT	0.348000													9	29					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730097	140730097	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:140730097G>A	ENST00000523390.1	+	1	270	c.270G>A	c.(268-270)gaG>gaA	p.E90E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGATCGAGAGAAGATTTGCG	0.438000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	26					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34839145	34839145	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:34839145G>A	ENST00000420428.2	-	11	1727	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	CELF4_ENST00000412753.1_Splice_Site_p.F443F|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000361795.5_Splice_Site_p.F442F|CELF4_ENST00000591287.1_Splice_Site_p.F442F|CELF4_ENST00000591282.1_Splice_Site_p.F444F|CELF4_ENST00000603232.1_Splice_Site_p.F443F|CELF4_ENST00000588597.1_Silent_p.F432F|CELF4_ENST00000601019.1_Splice_Site_p.F442F	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	444	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGACATTACCGAAAGGGAGGA	0.522000													16	45					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786118	19786118	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:19786118C>G	ENST00000341998.2	-	1	808	c.747G>C	c.(745-747)ttG>ttC	p.L249F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L249F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	249					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCAGCATGATCAAGTCAACAA	0.383000													23	53					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880800	12880800	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:12880800C>T	ENST00000155926.4	+	3	2331	c.912C>T	c.(910-912)gaC>gaT	p.D304D	TRIB2_ENST00000381465.2_Silent_p.D168D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	304	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAATTCTGGACCATCCTTGGT	0.527000													8	35					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40486045	40486045	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40486045G>C	ENST00000264657.5	-	9	1132	c.820C>G	c.(820-822)Caa>Gaa	p.Q274E	STAT3_ENST00000588969.1_Missense_Mutation_p.Q274E|STAT3_ENST00000404395.3_Missense_Mutation_p.Q274E|STAT3_ENST00000585517.1_Missense_Mutation_p.Q274E|STAT3_ENST00000389272.3_Missense_Mutation_p.Q176E	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)	274					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			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)		GTCTGAAGTTGAGATTCTGCT	0.433000									Hyperimmunoglobulin E Recurrent Infection Syndrome				13	27					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903453	6903453	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:6903453C>T	ENST00000486284.1	+	1	652	c.378C>T	c.(376-378)ctC>ctT	p.L126L	GRM7_ENST00000402647.2_Silent_p.L126L|GRM7_ENST00000389336.4_Silent_p.L126L|GRM7_ENST00000357716.4_Silent_p.L126L|GRM7_ENST00000403881.1_Silent_p.L126L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	126					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCAGGCGCTCATCCAGAAGG	0.602000													27	64					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131865300	131865300	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:131865300C>G	ENST00000318080.2	-	4	750	c.456G>C	c.(454-456)atG>atC	p.M152I	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	152					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACTTGTCAATCATGACCTTGA	0.572000													63	148					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127223117	127223117	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:127223117G>A	ENST00000321407.2	-	2	1703	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	427						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGACATCCAGACTGGACTCC	0.557000													36	92					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106808218	106808218	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:106808218C>A	ENST00000276185.4	+	13	1317	c.1317C>A	c.(1315-1317)ttC>ttA	p.F439L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	439	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGTCCGAGTTCAGCAAGATCA	0.582000													48	38					4.18559e-23	4.5187e-23	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37183356	37183356	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:37183356C>G	ENST00000274258.7	-	26	5157	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	C5orf42_ENST00000508244.1_Missense_Mutation_p.E1643Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1643Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1643										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTGGTTTTCTAAATGCATG	0.358000													7	30					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458000													12	44					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35507497	35507497	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:35507497C>G	ENST00000217320.3	+	3	287	c.243C>G	c.(241-243)ttC>ttG	p.F81L	TLDC2_ENST00000602922.1_Missense_Mutation_p.F81L	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GTCTGGTCTTCTGCACGTCAA	0.642000													43	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629377	179629377	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:179629377G>A	ENST00000589042.1	-	42	10089	c.9865C>T	c.(9865-9867)Cat>Tat	p.H3289Y	TTN_ENST00000342175.6_Missense_Mutation_p.H3243Y|TTN_ENST00000591111.1_Missense_Mutation_p.H3289Y|TTN_ENST00000460472.2_Missense_Mutation_p.H3243Y|TTN_ENST00000359218.5_Missense_Mutation_p.H3243Y|TTN_ENST00000342992.6_Missense_Mutation_p.H3289Y|TTN_ENST00000360870.5_Missense_Mutation_p.H3289Y|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3018	Ig-like 19.						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)			TGCCCATCATGAAGAAATTTG	0.488000													42	101					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40513302	40513302	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:40513302C>T	ENST00000347077.4	+	5	509	c.293C>T	c.(292-294)tCa>tTa	p.S98L	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.S72L	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AACCTGGTCTCACTGGGTAAG	0.468000													23	48					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6694615	6694615	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:6694615G>A	ENST00000349363.6	-	8	969	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	DNAJC11_ENST00000377577.5_3'UTR|THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000465508.1_5'UTR			Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	234					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTTGCTCCGAGGGGTCAGC	0.677000													6	17					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31917265	31917265	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:31917265G>C	ENST00000556679.1	+	22	2900	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.D798H|CFB_ENST00000425368.2_Missense_Mutation_p.D447H|CFB_ENST00000456570.1_Missense_Mutation_p.D949H			P00751	CFAB_HUMAN	complement factor B	447					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTCCAAGAAAGACAATGAGCA	0.423000													15	37					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4458575	4458575	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:4458575C>G	ENST00000254718.4	-	1	351	c.45G>C	c.(43-45)gcG>gcC	p.A15A	MYBBP1A_ENST00000381556.2_Silent_p.A15A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	15	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACTCTGCGTCGCTTCTCCAG	0.632000													9	12					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332090	144332090	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:144332090G>T	ENST00000330701.4	+	2	446	c.77G>T	c.(76-78)aGa>aTa	p.R26I	ZFP41_ENST00000520584.1_Missense_Mutation_p.R26I|ZFP41_ENST00000522452.1_Missense_Mutation_p.R26I	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	26					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			AGTGCGCTCAGAGAGGAGAAG	0.597000													12	30					2.27111e-07	2.34437e-07	1	1	0
TLN2	83660	broad.mit.edu	37	15	63014626	63014626	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:63014626G>T	ENST00000561311.1	+	25	3296	c.3066G>T	c.(3064-3066)ctG>ctT	p.L1022L	TLN2_ENST00000306829.6_Silent_p.L1022L			Q9Y4G6	TLN2_HUMAN	talin 2	1022	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCATGCAGCTGAGCCAGTGTG	0.577000													13	27					5.50884e-06	5.64452e-06	1	1	0
ZNF91	7644	broad.mit.edu	37	19	23557536	23557536	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:23557536C>T	ENST00000300619.7	-	2	266	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	ZNF91_ENST00000599743.1_Missense_Mutation_p.E21K|ZNF91_ENST00000397082.2_Missense_Mutation_p.E21K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	21	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGAGAGAATTCTATGGCCACA	0.423000													32	97					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824697	54824697	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:54824697C>G	ENST00000243911.2	+	1	910	c.798C>G	c.(796-798)atC>atG	p.I266M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	303					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTCATCATCACCTGCCCCA	0.562000													37	120					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19492957	19492957	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:19492957G>A	ENST00000407835.1	+	11	1033	c.777G>A	c.(775-777)gaG>gaA	p.E259E	CDC45_ENST00000263201.1_Silent_p.E259E|CDC45_ENST00000404724.3_Silent_p.E213E|CDC45_ENST00000437685.2_Silent_p.E291E			O75419	CDC45_HUMAN	cell division cycle 45	259					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ACGAGGATGAGGAGAACACAC	0.562000													6	39					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53125964	53125964	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:53125964G>A	ENST00000296292.3	-	13	1642	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	RFT1_ENST00000394738.3_Silent_p.L488L|RP11-894J14.5_ENST00000607203.1_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	527					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ACTGAGTCCTGAGGAAATGGA	0.567000													13	44					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52437315	52437315	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:52437315C>G	ENST00000460680.1	-	14	2201		c.e14-1		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TTCCCACCCTCTGGGAAGAGA	0.597000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							17	36					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74277002	74277002	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:74277002G>A	ENST00000262765.5	-	9	3977	c.3798C>T	c.(3796-3798)gcC>gcT	p.A1266A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1266							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTGCAGGATGGCACTCTGCA	0.622000													22	39					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19440422	19440422	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:19440422G>C	ENST00000538714.1	+	12	1781	c.1777G>C	c.(1777-1779)Gac>Cac	p.D593H	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.D593H|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D599H|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D485H|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D593H|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D593H|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D593H|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D485H|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.D593H|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D351H	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	593							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTATGTGCCTGACAGAAGGTC	0.398000													25	68					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379929	10379929	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:10379929G>A	ENST00000397077.1	-	21	3791	c.3216C>T	c.(3214-3216)gaC>gaT	p.D1072D	ATP2B2_ENST00000383800.4_Silent_p.D1072D|ATP2B2_ENST00000360273.2_Silent_p.D1117D|ATP2B2_ENST00000352432.4_Silent_p.D1117D|ATP2B2_ENST00000343816.4_Silent_p.D1103D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1117					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCTCCGCGTGGTCGATCTCCT	0.647000													32	70					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656455	12656455	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:12656455C>A	ENST00000425538.1	+	10	2050	c.1850C>A	c.(1849-1851)tCc>tAc	p.S617Y	MYOCD_ENST00000343344.4_Missense_Mutation_p.S617Y|AC005358.1_ENST00000609971.1_Missense_Mutation_p.S521Y|MYOCD_ENST00000395988.1_3'UTR	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	617					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTGTGGAGTCCTCAGATCAA	0.517000													47	148					1.91693e-13	2.03602e-13	1	1	0
CREB3L4	148327	broad.mit.edu	37	1	153941041	153941041	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:153941041G>C	ENST00000368607.3	+	2	306	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.E14Q|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E14Q|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E14Q|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E14Q	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	14					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCGTGGCTGGAGCCCCCAGA	0.592000													20	48					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187081	27187081	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:27187081C>G	ENST00000222728.3	-	1	312	c.288G>C	c.(286-288)caG>caC	p.Q96H	HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_5'UTR|RP1-170O19.23_ENST00000498652.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGGGCCCCTCTGCTTGCCAC	0.647000													28	59					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968284	18968284	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:18968284C>G	ENST00000262803.5	+	15	2396	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	UPF1_ENST00000599848.1_Silent_p.L719L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	719					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACCCTGCACTCAGCGCCTTCC	0.647000													13	43					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432117	67432117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:67432117G>A	ENST00000348579.2	-	8	1266	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	309						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CTCTATACCTGAATGGGCCGC	0.632000													29	96					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577863	2577863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:2577863C>T	ENST00000302956.4	+	5	599	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Nonsense_Mutation_p.Q169*|AMDHD2_ENST00000293971.6_Nonsense_Mutation_p.Q169*|AMDHD2_ENST00000565570.1_Intron|ATP6C_ENST00000569317.1_Nonsense_Mutation_p.Q122*			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	169					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CGATGCCTTCCAGGACTTGCT	0.701000													4	10					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492827	230492827	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:230492827C>T	ENST00000321327.2	-	4	661	c.662G>A	c.(661-663)gGa>gAa	p.G221E	PGBD5_ENST00000391860.1_Missense_Mutation_p.G76E|PGBD5_ENST00000525115.1_Missense_Mutation_p.G122E			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	122						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GTAGAAGCCTCCGCTCCAGAT	0.622000													19	49					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33558604	33558604	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:33558604C>G	ENST00000399362.4	-	35	4224	c.3871G>C	c.(3871-3873)Gag>Cag	p.E1291Q	CLASP2_ENST00000468888.2_Missense_Mutation_p.E1292Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1283Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1071Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1051Q|CLASP2_ENST00000539981.1_Missense_Mutation_p.E1061Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E773Q	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1293										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						TCTACACGCTCATTATGGTTA	0.358000													16	40					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109505358	109505358	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:109505358G>A	ENST00000257548.5	+	4	499	c.406G>A	c.(406-408)Gag>Aag	p.E136K	USP30_ENST00000392784.2_Missense_Mutation_p.E105K	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	136					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TACTGATGATGAGGTCTTAGA	0.373000													28	46					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352695	44352695	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:44352695C>G	ENST00000324461.7	+	7	2239	c.1942C>G	c.(1942-1944)Cat>Gat	p.H648D	ZNF283_ENST00000588797.1_Missense_Mutation_p.H509D	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAACTCATAGTAATGA	0.363000													20	50					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44072119	44072119	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:44072119G>A	ENST00000378832.1	+	3	638	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	194							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAAGTGACATGAACTGCATTG	0.463000													52	127					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147476	54147476	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:54147476C>T	ENST00000265572.3	-	3	750	c.453G>A	c.(451-453)atG>atA	p.M151I	OPRK1_ENST00000520287.1_Missense_Mutation_p.M151I|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.M62I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	151					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCACGCTCATCATGGTCAAGG	0.483000													16	32					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294313	62294313	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62294313C>T	ENST00000378024.4	-	5	7850	c.7576G>A	c.(7576-7578)Gag>Aag	p.E2526K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2526					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGGCCCTCTGCTTTGAAG	0.502000													51	150					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689102	45689102	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:45689102G>A	ENST00000216211.4	+	5	644	c.612G>A	c.(610-612)cgG>cgA	p.R204R	UPK3A_ENST00000396082.2_Silent_p.R83R	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	204					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGGCCGGCGGAGCGGAGGCA	0.607000													24	54					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177930078	177930078	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:177930078C>G	ENST00000464631.2	-	7	869		c.e7-1		RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000308284.6_Intron			Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAGACATCTTCTGACCAACAG	0.473000													15	42					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11060055	11060055	+	Translation_Start_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:11060055G>A	ENST00000450189.1	+	1	163	c.3G>A	c.(1-3)atG>atA	p.M1I	CELF2_ENST00000416382.2_Intron|CELF2_ENST00000542579.1_Start_Codon_SNP_p.M1I|CELF2_ENST00000379261.4_Intron	NM_006561.3	NP_006552.3	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	0	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ccgcgAACATGACTTCTGCCT	0.741000													27	119					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135438791	135438791	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:135438791G>A	ENST00000443774.1	-	4	701	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	FRG2B_ENST00000425520.1_Silent_p.L217L			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	217						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGGCACACAGAGGCCCCCGG	0.592000													18	16					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169694764	169694764	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:169694764C>G	ENST00000337002.4	+	3	234	c.176C>G	c.(175-177)tCa>tGa	p.S59*	SEC62_ENST00000480708.1_Nonsense_Mutation_p.S59*	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	59					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTTTTGGATTCAAAGTGGGCA	0.343000													9	35					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110828832	110828832	+	Silent	SNP	T	T	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:110828832T>A	ENST00000375820.4	-	36	3118	c.2997A>T	c.(2995-2997)ggA>ggT	p.G999G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	999	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			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)			CACCTGGGGTTCCACTTATAC	0.488000													18	47					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238826	58238826	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:58238826C>T	ENST00000317398.6	-	1	166	c.71G>A	c.(70-72)aGa>aAa	p.R24K	ZNF671_ENST00000596939.1_Missense_Mutation_p.R24K|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		CGGCAGGCGTCTCGATCGGGG	0.687000													20	45					0	0	1	0	0
SNX12	29934	broad.mit.edu	37	X	70288045	70288045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:70288045G>A	ENST00000374274.3	-	1	228	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Nonsense_Mutation_p.Q38*	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	38	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					CCCACCGTCTGAGGATTAAAG	0.637000													12	11					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124441051	124441051	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:124441051C>T	ENST00000408936.3	+	2	401	c.219C>T	c.(217-219)ttC>ttT	p.F73F	DAB2IP_ENST00000259371.2_Silent_p.F45F			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	73					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCACGCCGTTCCGGGTCACGG	0.682000													8	13					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143444	61143444	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:61143444C>T	ENST00000475015.1	-	0	894				C20orf166-AS1_ENST00000412495.1_RNA																							CTGGGACCCTCACCTTGACTG	0.662000													22	89					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28211894	28211894	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:28211894G>A	ENST00000354638.3	-	15	1733	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	OCA2_ENST00000382996.2_Silent_p.L526L|OCA2_ENST00000353809.5_Silent_p.L502L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	526					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTCTGAGGAGCGGAAAGC	0.458000									Oculocutaneous Albinism				9	30					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390684	197390684	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:197390684G>A	ENST00000367400.3	+	6	1861	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	CRB1_ENST00000544212.1_Missense_Mutation_p.E57K|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.E576K|CRB1_ENST00000367399.2_Missense_Mutation_p.E464K|CRB1_ENST00000535699.1_Missense_Mutation_p.E507K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	576	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						AATATTTGCAGAGGCTGTGAC	0.433000													40	70					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122413487	122413487	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:122413487C>G	ENST00000288912.4	+	19	3756	c.2902C>G	c.(2902-2904)Caa>Gaa	p.Q968E		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	968							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCTCCGCAGTCAAGGCATCGA	0.438000													14	38					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890494	43890494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:43890494G>C	ENST00000300283.6	+	8	1372	c.980G>C	c.(979-981)gGa>gCa	p.G327A	CKMT1B_ENST00000441322.1_Missense_Mutation_p.G327A	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	327	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTTCGGGCAGGAGTGCACATC	0.532000													36	86					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045391	35045391	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:35045391C>G	ENST00000312292.5	+	2	2812	c.2765C>G	c.(2764-2766)tCa>tGa	p.S922*	C9orf131_ENST00000354479.5_Nonsense_Mutation_p.S849*|C9orf131_ENST00000421362.2_Nonsense_Mutation_p.S874*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	922										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAGAACCCTCAAACTCTAAG	0.527000													56	151					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365287	30365287	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:30365287C>G	ENST00000305596.3	-	4	485	c.310G>C	c.(310-312)Gat>Cat	p.D104H	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D104H	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	104					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAGTTGCCATCGGCATCAAAG	0.627000													28	80					0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43541315	43541315	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:43541315G>C	ENST00000255136.3	+	2	290	c.208G>C	c.(208-210)Gac>Cac	p.D70H	PABPC1L_ENST00000537323.1_Missense_Mutation_p.D70H|PABPC1L_ENST00000217074.4_Missense_Mutation_p.D70H|PABPC1L_ENST00000217073.2_Missense_Mutation_p.D70H	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	70	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GCGGGCACTGGACACAATGAA	0.512000													17	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639676	179639676	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:179639676G>A	ENST00000589042.1	-	29	6986	c.6762C>T	c.(6760-6762)gtC>gtT	p.V2254V	TTN_ENST00000342175.6_Silent_p.V2208V|TTN_ENST00000591111.1_Silent_p.V2254V|TTN_ENST00000460472.2_Silent_p.V2208V|TTN_ENST00000359218.5_Silent_p.V2208V|TTN_ENST00000342992.6_Silent_p.V2254V|TTN_ENST00000360870.5_Silent_p.V2254V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1977	Ig-like 11.						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)			CAGTCGTTTTGACATTTTCAT	0.393000													15	37					0	0	1	0	0
ICT1	3396	broad.mit.edu	37	17	73016694	73016694	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:73016694G>A	ENST00000301585.5	+	5	491	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	160					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CATGATCACTGAGGCCAGCCA	0.463000													30	64					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300279	35300279	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:35300279G>A	ENST00000254457.5	+	5	2483	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	358					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCCAGCCCCGAGCCCAGCCT	0.736000													9	17					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248533	141248533	+	Silent	SNP	G	G	A	rs145624062		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:141248533G>A	ENST00000287008.3	-	2	651	c.504C>T	c.(502-504)ttC>ttT	p.F168F	PCDH1_ENST00000456271.1_Silent_p.F168F|PCDH1_ENST00000394536.3_Silent_p.F168F|PCDH1_ENST00000536585.1_Silent_p.F146F|PCDH1_ENST00000503492.1_Silent_p.F168F	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	168	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGTGAGGCGAAGTTGGGTG	0.552000													67	105					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10145781	10145781	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:10145781C>G	ENST00000428126.2	-	7	821	c.552G>C	c.(550-552)gaG>gaC	p.E184D	CLEC1B_ENST00000298527.6_Missense_Mutation_p.E217D|CLEC1B_ENST00000348658.4_Missense_Mutation_p.E184D			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	217	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CAGCCTTCCTCTCACACATTA	0.368000													36	126					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708205	43708205	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:43708205C>G	ENST00000405312.3	-	2	500	c.263G>C	c.(262-264)aGa>aCa	p.R88T	PSG4_ENST00000433626.2_Missense_Mutation_p.R88T|PSG4_ENST00000244295.9_Missense_Mutation_p.R88T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	88	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.R88I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATATATAATTCTTTGACCGTC	0.438000													75	199					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48027550	48027550	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:48027550G>A	ENST00000234420.5	+	4	2580	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	MSH6_ENST00000538136.1_Missense_Mutation_p.E508K|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.E680K	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAAGTTGTAGAGCTTCTAAA	0.448000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				27	48					0	0	1	0	0
C11orf31	280636	broad.mit.edu	37	11	57509671	57509671	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:57509671G>C	ENST00000388857.4	+	3	375	c.351G>C	c.(349-351)ttG>ttC	p.L117F	C11orf31_ENST00000534355.1_Missense_Mutation_p.L117F|RP11-691N7.6_ENST00000531074.1_Missense_Mutation_p.E13Q|TMX2-CTNND1_ENST00000528395.1_Intron			Q8IZQ5	SELH_HUMAN	chromosome 11 open reading frame 31	117					cell redox homeostasis		selenium binding										TGGAAGAGTTGAAGAAGTACC	0.537000													5	9					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94100967	94100967	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:94100967C>G	ENST00000553484.1	+	33	6037	c.5883C>G	c.(5881-5883)atC>atG	p.I1961M	UNC79_ENST00000555664.1_Intron|UNC79_ENST00000256339.4_Missense_Mutation_p.I1762M|UNC79_ENST00000393151.2_Missense_Mutation_p.I1939M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1939						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCATAACATCAGCAACTGGG	0.493000													20	79					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47753903	47753903	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:47753903C>G	ENST00000398545.4	-	8	1510	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	465										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTCCTTCTCTGCTTCTTGG	0.498000													56	112					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109524402	109524402	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:109524402C>T	ENST00000409271.1	-	10	1416	c.973G>A	c.(973-975)Gac>Aac	p.D325N	EDAR_ENST00000258443.2_Missense_Mutation_p.D293N|EDAR_ENST00000376651.1_Missense_Mutation_p.D325N			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	293					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCCTGCTTGTCAGGGGCGGGC	0.612000													28	77					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179564	103179564	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:103179564C>T	ENST00000428762.1	-	45	7300	c.7141G>A	c.(7141-7143)Gac>Aac	p.D2381N	RELN_ENST00000424685.2_Missense_Mutation_p.D2381N|RELN_ENST00000343529.5_Missense_Mutation_p.D2381N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2381					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCAGCGAAGTCTATCTGTAGG	0.537000													10	34					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26854482	26854482	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:26854482C>G	ENST00000398145.2	-	12	2391	c.1775G>C	c.(1774-1776)aGg>aCg	p.R592T	HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.R587T|HPS4_ENST00000336873.5_Missense_Mutation_p.R592T|HPS4_ENST00000398141.1_Missense_Mutation_p.R605T	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	592					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGCCTCATCCCTGGGCAGCGT	0.587000									Hermansky-Pudlak syndrome				13	50					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74639705	74639705	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:74639705C>G	ENST00000287936.4	+	3	349	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	HMGCR_ENST00000343975.5_Missense_Mutation_p.L65V|HMGCR_ENST00000511206.1_Missense_Mutation_p.L65V	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	65					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CATTATAATTCTGACAATAAC	0.294000													17	21					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62458267	62458267	+	Nonsense_Mutation	SNP	G	G	A	rs149907021	by1000genomes	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:62458267G>A	ENST00000278893.7	-	8	1028	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Missense_Mutation_p.S382L|BSCL2_ENST00000360796.5_Missense_Mutation_p.S382L|BSCL2_ENST00000407022.3_Missense_Mutation_p.S318L|BSCL2_ENST00000403550.1_Missense_Mutation_p.S318L|BSCL2_ENST00000405837.1_Missense_Mutation_p.S384L|BSCL2_ENST00000421906.1_Missense_Mutation_p.S318L	NM_001130702.2	NP_001124174.2	Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	0					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						ACCTGTCCCTGAGGGATCTTC	0.577000													23	27					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194053	36194053	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:36194053C>G	ENST00000242108.4	+	2	838	c.120C>G	c.(118-120)ctC>ctG	p.L40L	EEPD1_ENST00000534978.1_Silent_p.L40L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	40	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGAGCGGCTCAACATCAACA	0.607000													39	104					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49280072	49280072	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:49280072G>C	ENST00000586178.1	-	10	1396	c.1053C>G	c.(1051-1053)ttC>ttG	p.F351L	MBTD1_ENST00000415868.1_Missense_Mutation_p.F351L|MBTD1_ENST00000376381.2_Missense_Mutation_p.F351L	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	351					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CAGATCTTTTGAATCGATGAC	0.393000													25	68					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43129844	43129844	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:43129844C>T	ENST00000342374.4	-	9	1310	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	SERINC3_ENST00000541235.1_Missense_Mutation_p.E330K|SERINC3_ENST00000255175.1_Missense_Mutation_p.E385K	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	385						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CCATCTTCTTCATCACTGGCA	0.522000													25	86					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693230	55693230	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:55693230G>C	ENST00000376350.3	-	20	3262	c.3240C>G	c.(3238-3240)ctC>ctG	p.L1080L	PTPRH_ENST00000263434.5_Silent_p.L902L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1080					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGACTGTTGGAGGAACCGCA	0.617000													54	88					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73971994	73971994	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:73971994G>A	ENST00000476977.1	+	20	3740	c.2049G>A	c.(2047-2049)cgG>cgA	p.R683R	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.R715R|GTF2IRD1_ENST00000265755.3_Silent_p.R698R|GTF2IRD1_ENST00000424337.2_Silent_p.R683R			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	698						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTCTCACGGATCGACATCG	0.493000													17	46					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30963148	30963148	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:30963148C>G	ENST00000311813.4	+	4	769	c.714C>G	c.(712-714)ctC>ctG	p.L238L	AQP1_ENST00000409899.1_Silent_p.L123L|AQP1_ENST00000441328.2_Silent_p.L155L|AQP1_ENST00000434909.2_Silent_p.L298L|AQP1_ENST00000509504.1_Silent_p.L415L|AQP1_ENST00000409611.1_Silent_p.L187L|AQP1_ENST00000482461.1_3'UTR	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				GCAGTGACCTCACAGACCGCG	0.582000													14	48					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124340581	124340581	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:124340581C>G	ENST00000287394.5	-	25	3824	c.3717G>C	c.(3715-3717)ttG>ttC	p.L1239F	ATAD2_ENST00000521903.1_Missense_Mutation_p.L557F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			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)			AATTATTTCTCAATTCCAGTT	0.373000													10	30					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100678575	100678575	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:100678575G>A	ENST00000375119.3	-	2	198	c.122C>T	c.(121-123)tCg>tTg	p.S41L	C9orf156_ENST00000478126.1_Intron	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	41					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				ATTCTTGGCCGAGAAACAAGA	0.393000													20	20					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420851	54420851	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:54420851G>C	ENST00000296733.1	-	9	1169	c.995C>G	c.(994-996)tCa>tGa	p.S332*	CDC20B_ENST00000381375.2_Nonsense_Mutation_p.S332*|CDC20B_ENST00000334206.5_Missense_Mutation_p.Q361E|CDC20B_ENST00000322374.6_Nonsense_Mutation_p.S332*	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	332										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCCAGTCTTGACCCACTGCG	0.438000													34	32					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677122	48677122	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:48677122G>A	ENST00000352832.5	+	16	3895	c.3523G>A	c.(3523-3525)Gac>Aac	p.D1175N	CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1198N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1175N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1198N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1175N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1198N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1175N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1175N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1198N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1175N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1175N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1198N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1198N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1175N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1198					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGAGCACCAGGACTGCAATGG	0.662000													14	22					0	0	1	0	0
GSK3A	2931	broad.mit.edu	37	19	42736658	42736658	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:42736658G>A	ENST00000398249.4	-	8	2742	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	GSK3A_ENST00000222330.3_Silent_p.F425F			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	425	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CACCAGCACTGAAGTTGAAGA	0.597000													15	42					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717384	47717384	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:47717384G>C	ENST00000360380.3	-	18	3651	c.3288C>G	c.(3286-3288)ctC>ctG	p.L1096L	STIL_ENST00000396221.2_Silent_p.L1079L|STIL_ENST00000337817.5_Silent_p.L1096L|STIL_ENST00000243182.6_Silent_p.L1096L|STIL_ENST00000371877.3_Silent_p.L1097L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1096					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TATTAATATGGAGAAGGCTGA	0.368000													37	102					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052131	132052131	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:132052131C>T	ENST00000286355.5	-	1	2541	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R150Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	150					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 membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R150Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGACCCCTCGGTAGCTATA	0.577000										HNSCC(32;0.087)			19	26					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34219273	34219273	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:34219273C>T	ENST00000317619.3	-	11	1112	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CPNE1_ENST00000397446.1_Missense_Mutation_p.E240K|CPNE1_ENST00000397442.1_Missense_Mutation_p.E240K|CPNE1_ENST00000352393.4_Missense_Mutation_p.E240K|CPNE1_ENST00000397445.1_Missense_Mutation_p.E240K|CPNE1_ENST00000317677.5_Missense_Mutation_p.E245K|CPNE1_ENST00000397443.1_Missense_Mutation_p.E240K			Q99829	CPNE1_HUMAN	copine I	240					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CATTCAAACTCAGCCTGGTGA	0.468000													22	69					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974120	64974120	+	Silent	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:64974120A>G	ENST00000399262.2	-	8	2025	c.1807T>C	c.(1807-1809)Tta>Cta	p.L603L	JMJD1C_ENST00000402544.1_Silent_p.L384L|JMJD1C_ENST00000542921.1_Silent_p.L421L|JMJD1C_ENST00000399251.1_Silent_p.L384L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	603					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			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)					ACTGCACTTAAAGGAGAAATG	0.358000													15	19					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14155855	14155855	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:14155855G>T	ENST00000380959.3	-	4	1127	c.654C>A	c.(652-654)ttC>ttA	p.F218L	NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000397581.2_Missense_Mutation_p.F218L|NFIB_ENST00000380953.1_Missense_Mutation_p.F218L|NFIB_ENST00000397579.2_Missense_Mutation_p.F218L|NFIB_ENST00000397575.3_Missense_Mutation_p.F218L|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000380934.4_Missense_Mutation_p.F244L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	218					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CTGATACATTGAAGACTCCAG	0.259000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								6	19					0.00448238	0.00453323	1	1	0
CCDC180	100499483	broad.mit.edu	37	9	100071779	100071779	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:100071779G>A	ENST00000375202.2	+	17	1637	c.285G>A	c.(283-285)atG>atA	p.M95I	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.M234I|CCDC180_ENST00000411667.2_Missense_Mutation_p.M95I|CCDC180_ENST00000357054.1_Missense_Mutation_p.M234I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.M95I					coiled-coil domain containing 180																		GGATACCCATGATGAAGAAGG	0.592000													26	35					0	0	1	0	0
TMA7	51372	broad.mit.edu	37	3	48482025	48482025	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:48482025G>A	ENST00000438607.2	+	3	187	c.147G>A	c.(145-147)ggG>ggA	p.G49G	RP11-24C3.2_ENST00000438872.1_RNA	NM_015933.3	NP_057017.1			translation machinery associated 7 homolog (S. cerevisiae)											lung(1)	1						AGGCCGCGGGGAAGGGGCCCT	0.557000													4	17					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13625942	13625942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:13625942G>A	ENST00000011619.3	-	13	2060	c.2002C>T	c.(2002-2004)Cag>Tag	p.Q668*	RANBP9_ENST00000539980.1_Nonsense_Mutation_p.Q439*|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	668	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GGGTCAAGCTGATTTCCAACT	0.393000													83	111					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95457395	95457395	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:95457395C>T	ENST00000324972.6	+	5	585	c.392C>T	c.(391-393)tCa>tTa	p.S131L	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S114L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S114L|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000537881.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	131					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACAGACCCCTCAGTGCTCCAG	0.438000													72	199					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462104	5462104	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:5462104C>G	ENST00000345221.3	-	4	2466	c.1912G>C	c.(1912-1914)Gag>Cag	p.E638Q	NLRP1_ENST00000262467.5_Missense_Mutation_p.E638Q|NLRP1_ENST00000354411.3_Missense_Mutation_p.E638Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.E638Q|NLRP1_ENST00000572272.1_Missense_Mutation_p.E638Q|NLRP1_ENST00000577119.1_Missense_Mutation_p.E638Q	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	638					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTCTCATCCTCCAAGACATAG	0.448000													24	50					0	0	1	0	0
RPL28	6158	broad.mit.edu	37	19	55899468	55899468	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:55899468G>A	ENST00000560583.1	+	4	416	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	RPL28_ENST00000559463.1_Intron|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000344063.2_Intron|RPL28_ENST00000458349.2_Intron	NM_001136134.1	NP_001129606.1	P46779	RL28_HUMAN	ribosomal protein L28	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTGCTGTGGGGAAGGGCCTCC	0.597000													13	38					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363094	13363094	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:13363094C>G	ENST00000254508.5	-	36	5239	c.5157G>C	c.(5155-5157)gaG>gaC	p.E1719D		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1719					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCTCCAAGTTCTCCAGAACCT	0.592000													49	83					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191929651	191929651	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:191929651C>G	ENST00000392320.2	-	8	978	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	STAT4_ENST00000358470.4_Missense_Mutation_p.E222Q	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	222					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGTCTGTCTCATGGATGATT	0.448000													39	135					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257246	105257246	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:105257246C>A	ENST00000507740.1	+	18	3115	c.2879C>A	c.(2878-2880)tCt>tAt	p.S960Y	RIMS2_ENST00000406091.3_Missense_Mutation_p.S1146Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.S1164Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.S985Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.S82Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1208					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S960C(2)|p.S1146C(1)|p.S1164C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCGAGAGTCTACAGATGGT	0.507000										HNSCC(12;0.0054)			32	136					3.66082e-28	3.97624e-28	1	1	0
ASGR2	433	broad.mit.edu	37	17	7017662	7017662	+	Translation_Start_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:7017662G>C	ENST00000355035.5	-	0	94				ASGR2_ENST00000380952.2_Intron|ASGR2_ENST00000254850.7_Intron			P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2						cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CGTGGAGGTTGATGGTGGGAT	0.657000													3	7					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38150986	38150986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:38150986G>T	ENST00000406386.3	+	13	5737	c.5482G>T	c.(5482-5484)Gag>Tag	p.E1828*	TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.E115*|TRIOBP_ENST00000407319.2_Nonsense_Mutation_p.E115*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1828	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCACTGCTGAGGAGGTGAG	0.582000													5	14					0.014758	0.0148772	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37183261	37183261	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:37183261C>A	ENST00000274258.7	-	26	5252	c.1665G>T	c.(1663-1665)atG>atT	p.M555I	C5orf42_ENST00000508244.1_Missense_Mutation_p.M1674I|C5orf42_ENST00000425232.2_Missense_Mutation_p.M1674I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1674										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATAATCCACTCATTCCTTCAT	0.313000													10	24					0.0581538	0.0583877	1	1	0
TINAG	27283	broad.mit.edu	37	6	54173504	54173504	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:54173504C>T	ENST00000259782.4	+	1	252	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TINAG_ENST00000370864.3_Silent_p.F34F|TINAG_ENST00000370869.3_Silent_p.F48F|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	52					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.F52F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGCCATTTTCCAAGGGCAAT	0.423000													40	112					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31008057	31008057	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:31008057C>T	ENST00000215095.5	-	7	715	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	STX1B_ENST00000565419.1_Missense_Mutation_p.E162K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	162					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCCAGTTCTTCGTTGGTGGTG	0.632000													29	78					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40804653	40804653	+	Missense_Mutation	SNP	G	G	C	rs148499418		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:40804653G>C	ENST00000248929.9	+	17	1994	c.1805G>C	c.(1804-1806)aGa>aCa	p.R602T	SGSM3_ENST00000454798.2_Missense_Mutation_p.R535T	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	602	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GAGGTCGAGAGAGACTTTGCC	0.632000													21	52					0	0	1	0	0
B9D2	80776	broad.mit.edu	37	19	41863866	41863866	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:41863866C>G	ENST00000243578.3	-	3	369	c.150G>C	c.(148-150)caG>caC	p.Q50H	CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	50	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						TGTCCCCTATCTGCGGGGTGT	0.642000													24	58					0	0	1	0	0
RNF181	51255	broad.mit.edu	37	2	85823747	85823747	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:85823747G>A	ENST00000441634.1	+	2	231	c.192G>A	c.(190-192)agG>agA	p.R64R	RNF181_ENST00000306368.4_Silent_p.R64R			Q9P0P0	RN181_HUMAN	ring finger protein 181	64							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						ACCTCCCCAGGACAGTCATCA	0.542000													14	45					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16864007	16864007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:16864007C>A	ENST00000380087.2	-	11	1513	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*	RBBP7_ENST00000404022.1_Nonsense_Mutation_p.E376*|RBBP7_ENST00000380084.4_Nonsense_Mutation_p.E429*			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	385					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ACCCAAGGCTCATTGGGGTTC	0.373000													37	13					1.15183e-24	1.24566e-24	1	1	0
AEN	64782	broad.mit.edu	37	15	89173319	89173319	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:89173319G>C	ENST00000332810.3	+	4	923	c.772G>C	c.(772-774)Gat>Cat	p.D258H	AEN_ENST00000379231.3_Missense_Mutation_p.D258H	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	258	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATCAGTAGAAGATGCCACGAC	0.617000													21	53					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773884	151773884	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:151773884G>C	ENST00000535741.1	-	23	3451	c.2978C>G	c.(2977-2979)tCa>tGa	p.S993*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.S993*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.S993*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.S993*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	993						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTCTATACTTGAATTTTCATT	0.363000													6	23					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36926998	36926998	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:36926998G>A	ENST00000373674.3	+	2	577	c.249G>A	c.(247-249)ggG>ggA	p.G83G		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	83						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGAGCGCGGGCGCCGCGGCG	0.667000													7	23					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144320338	144320338	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:144320338G>A	ENST00000360057.3	-	6	377	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.S92L|TPK1_ENST00000538212.2_Missense_Mutation_p.S87L|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	92					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCAGGAGTTGAAATGAGCTC	0.308000													39	73					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68960144	68960144	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:68960144C>G	ENST00000456315.2	-	2	397	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	DEPDC1_ENST00000370966.5_Missense_Mutation_p.E95Q	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	95	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCAACATTTTCTGATCCCCAC	0.328000													9	16					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691095	129691095	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:129691095C>T	ENST00000358303.4	-	1	196	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.E38K|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.E38K|ZC3HC1_ENST00000311873.5_Start_Codon_SNP_p.M1I	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	38					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCAATCCCCTCATCTATCAGC	0.587000													29	86					0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75133803	75133803	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:75133803G>T	ENST00000440863.2	-	4	503	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	ULK3_ENST00000568667.1_Missense_Mutation_p.L149M|ULK3_ENST00000569437.1_Missense_Mutation_p.L138M	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	138	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						TGTGGCTTCAGATCCAGGTGA	0.542000													12	38					2.27111e-07	2.34437e-07	1	1	0
IGLV3-32	28787	broad.mit.edu	37	22	22937377	22937377	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:22937377C>T	ENST00000390303.2	+	0	234																											TGCTGGTCATCTATGATAGCA	0.587000											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	63					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653921	159653921	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:159653921G>A	ENST00000297267.9	+	11	2577	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D730N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	793						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGTGACGGCGATAGGGAAGA	0.632000													6	6					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17772668	17772668	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:17772668G>T	ENST00000581396.1	-	7	843	c.747C>A	c.(745-747)ttC>ttA	p.F249L	TOM1L2_ENST00000540946.1_Missense_Mutation_p.F201L|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000478943.1_Missense_Mutation_p.F32L|TOM1L2_ENST00000535933.1_Missense_Mutation_p.F246L|TOM1L2_ENST00000318094.10_Missense_Mutation_p.F254L|TOM1L2_ENST00000542206.1_Missense_Mutation_p.F151L|TOM1L2_ENST00000395739.4_Missense_Mutation_p.F254L|TOM1L2_ENST00000379504.3_Missense_Mutation_p.F299L	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	299	GAT.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CGTATCGAAGGAAGACGTTGT	0.483000													14	42					9.16793e-09	9.50297e-09	1	1	0
TRIM68	55128	broad.mit.edu	37	11	4624510	4624510	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:4624510C>T	ENST00000300747.5	-	3	776	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	163					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACCAACTTCAAGCTTCCAG	0.552000													31	72					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769531	247769531	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:247769531C>T	ENST00000320002.2	+	1	676	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCACTCATCTCCATCTCCTAT	0.478000													8	33					0	0	1	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966385	139966385	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:139966385G>A	ENST00000280614.2	+	3	1246	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	351					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ACAAGCTGCTGAGTGCTGATG	0.522000													8	48					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059619	45059619	+	Silent	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:45059619A>G	ENST00000558173.1	+	5	5285	c.540A>G	c.(538-540)gtA>gtG	p.V180V	TRIM69_ENST00000329464.4_Silent_p.V384V|TRIM69_ENST00000558329.1_Silent_p.V163V|TRIM69_ENST00000560442.1_Silent_p.V180V|TRIM69_ENST00000559390.1_Silent_p.V384V|TRIM69_ENST00000338264.4_Silent_p.V225V|TRIM69_ENST00000561043.1_Silent_p.V147V			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	384					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGTAGAAGTAGCAAAGAAGA	0.468000													25	61					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994929	108994929	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:108994929G>C	ENST00000272452.2	+	1	462	c.136G>C	c.(136-138)Gat>Cat	p.D46H	SULT1C4_ENST00000409309.3_Missense_Mutation_p.D46H	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	46					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGCCAAGCCTGATGACCTGCT	0.473000													40	99					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657633	41657633	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:41657633C>G	ENST00000260359.6	+	7	913	c.649C>G	c.(649-651)Cca>Gca	p.P217A	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Missense_Mutation_p.P231A|NUSAP1_ENST00000560177.1_Missense_Mutation_p.P231A|NUSAP1_ENST00000560747.1_Missense_Mutation_p.P230A|NUSAP1_ENST00000450318.1_Missense_Mutation_p.P232A|NUSAP1_ENST00000450592.2_Missense_Mutation_p.P208A|NUSAP1_ENST00000559596.1_Missense_Mutation_p.P232A	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	232					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GGTCAGGACTCCAGTACCTCC	0.522000													7	16					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122097134	122097134	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:122097134C>G	ENST00000355329.3	-	2	436	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	89										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGAGTAGACTCTCCTGCACTT	0.567000													26	87					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27423510	27423510	+	Splice_Site	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:27423510C>G	ENST00000358918.3	-	5	668		c.e5-1		APP_ENST00000357903.3_Splice_Site|APP_ENST00000440126.3_Splice_Site|APP_ENST00000439274.2_Splice_Site|APP_ENST00000348990.5_Splice_Site|APP_ENST00000346798.3_Splice_Site|APP_ENST00000448388.2_Splice_Site|APP_ENST00000359726.3_Splice_Site|APP_ENST00000354192.3_Splice_Site|APP_ENST00000474136.1_Splice_Site	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein						adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACTGCATGTCTACAAAGTGT	0.433000													4	8					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723580	58723580	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:58723580G>C	ENST00000326804.4	+	9	1489	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.E312Q|ZNF274_ENST00000424679.2_Missense_Mutation_p.E239Q	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	345	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			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)		TGACATTCCTGAGGAAGAACC	0.453000													16	45					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17489571	17489571	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:17489571G>A	ENST00000377873.3	-	5	737	c.698C>T	c.(697-699)tCc>tTc	p.S233F	BFSP1_ENST00000536626.1_Missense_Mutation_p.S94F|BFSP1_ENST00000544874.1_Missense_Mutation_p.S94F|BFSP1_ENST00000377868.2_Missense_Mutation_p.S108F	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	233	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTGCAGGTGGGAGAGCACCTC	0.642000													6	15					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406105	85406105	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:85406105G>C	ENST00000258888.5	+	10	5142	c.4975G>C	c.(4975-4977)Gag>Cag	p.E1659Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1659	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCAGCAGTGAGACTTCTCT	0.557000													11	58					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119059243	119059243	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:119059243C>T	ENST00000371410.3	-	9	1354	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	396	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGGCCAGAATCTTGTTCTCTC	0.408000													23	29					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687608	109687608	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:109687608G>A	ENST00000277225.5	+	3	1704	c.1415G>A	c.(1414-1416)tGt>tAt	p.C472Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.C472Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	472					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTCTACAAATGTGACGAATGT	0.473000													28	27					0	0	1	0	0
IGLON5	402665	broad.mit.edu	37	19	51831953	51831953	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:51831953G>A	ENST00000270642.8	+	8	951	c.951G>A	c.(949-951)ccG>ccA	p.P317P		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	317						extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						ACTCAGCCCCGAGGCCCCCAG	0.687000													5	7					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111095544	111095544	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:111095544C>T	ENST00000262839.2	-	5	2277	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	453					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGGCCACAATCTTCAGGGAAA	0.418000													35	28					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548709	116548709	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:116548709G>A	ENST00000410059.1	+	18	2064	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K	DPP10_ENST00000310323.8_Silent_p.K521K|DPP10_ENST00000393147.2_Silent_p.K532K|DPP10_ENST00000409163.1_Silent_p.K478K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	528					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			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						TCCTGAAGAAGAAGATAGGAA	0.328000													9	28					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46023076	46023076	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:46023076C>G	ENST00000296137.2	-	3	353	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.E50Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	50	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGGAGATACTCAAGTTTATAA	0.408000													8	24					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109481818	109481818	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:109481818C>T	ENST00000407272.1	+	12	1637	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	CEP57L1_ENST00000368970.2_Missense_Mutation_p.H371Y|CEP57L1_ENST00000520883.1_Missense_Mutation_p.H254Y|CEP57L1_ENST00000336977.4_Missense_Mutation_p.H254Y|CEP57L1_ENST00000517392.1_Missense_Mutation_p.H354Y|CEP57L1_ENST00000521522.1_Missense_Mutation_p.H301Y|CEP57L1_ENST00000359793.3_Missense_Mutation_p.H354Y|CEP57L1_ENST00000523787.1_Missense_Mutation_p.H357Y|CEP57L1_ENST00000368968.2_Missense_Mutation_p.H354Y	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	354						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AACTGAAAGTCATTCAGTCTG	0.333000													14	28					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452318	43452318	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:43452318C>T	ENST00000282388.3	-	2	918	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	209	RNA-binding.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CAGCGCGGCCCATAGGGGCAG	0.682000													15	28					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23222908	23222908	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:23222908C>T	ENST00000374632.3	+	9	1718	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000400191.3_Splice_Site_p.R568W|EPHB2_ENST00000374627.1_Splice_Site_p.R563W|EPHB2_ENST00000374630.3_Splice_Site_p.R568W			P29323	EPHB2_HUMAN	EPH receptor B2	568					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.R568W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCCAGAAGACGGGGGTTTGA	0.612000													15	41					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801984	67801984	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:67801984C>G	ENST00000544246.1	-	2	1280	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	PCDH9_ENST00000456367.1_Missense_Mutation_p.E197Q|PCDH9_ENST00000377865.2_Missense_Mutation_p.E197Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.E197Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E197Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	197	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCTCTCCCTCTGGAGTTTCC	0.433000													40	39					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362264	362264	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:362264G>C	ENST00000342640.4	-	8	1118	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	THEG_ENST00000346878.2_Missense_Mutation_p.S335C	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	359					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCTCATAGAGGCGAGGGG	0.602000													58	123					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966697	58966697	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:58966697C>T	ENST00000391696.1	+	3	1288	c.356C>T	c.(355-357)tCc>tTc	p.S119F	ZNF324B_ENST00000336614.4_Missense_Mutation_p.S129F|ZNF324B_ENST00000545523.1_Missense_Mutation_p.S129F			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCGGGTGCCTCCCCATCTCAG	0.607000													34	94					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99053033	99053033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:99053033C>T	ENST00000357310.1	+	5	1199	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q208*|APAF1_ENST00000333991.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000552268.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q197*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q197*	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	208	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ACGGTTGGATCAGGATGAGAG	0.478000													29	76					0	0	1	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357635	63357635	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:63357635C>T	ENST00000323646.5	-	3	678	c.324G>A	c.(322-324)ctG>ctA	p.L108L	PLA2G16_ENST00000415826.1_Silent_p.L108L|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	108					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TCTCACTGGTCAGCTTGTAGA	0.587000													26	103					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64413450	64413450	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:64413450G>C	ENST00000262043.3	+	11	3596	c.3256G>C	c.(3256-3258)Gag>Cag	p.E1086Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E1086Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1086					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCATTGGAGAAGCCAGA	0.348000													11	31					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672487	198672487	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:198672487C>G	ENST00000367376.2	+	7	809	c.638C>G	c.(637-639)tCa>tGa	p.S213*	PTPRC_ENST00000594404.1_Nonsense_Mutation_p.S52*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S215*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.S54*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S165*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	213					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTGTCATTTCAACCACAACA	0.468000													27	84					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418985	135418985	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:135418985G>A	ENST00000338588.3	-	3	525	c.260C>T	c.(259-261)tCa>tTa	p.S87L	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.S87L	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	87						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GCGGAAGTCTGAGGCCTTCCG	0.592000													62	150					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115298	168115298	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:168115298G>A	ENST00000409728.1	+	11	2430	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E748K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E781K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E748K|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.E526K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATGAATATGAAATTGAGAA	0.333000													15	28					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39851199	39851199	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:39851199C>T	ENST00000303538.8	-	27	3699	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1054					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATGTTCTCTGCCATCTTCTTC	0.373000													11	14					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60907461	60907461	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:60907461C>T	ENST00000252999.3	-	28	3585	c.3519G>A	c.(3517-3519)gtG>gtA	p.V1173V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1173	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTGAGCCTCACGCTGGCCT	0.627000													32	109					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198723462	198723462	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:198723462G>C	ENST00000367376.2	+	32	3739	c.3568G>C	c.(3568-3570)Gaa>Caa	p.E1190Q	PTPRC_ENST00000594404.1_Missense_Mutation_p.E1029Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.E1192Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.E1031Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.E1142Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1190	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGCGGAAACAGAAGAGGTAGT	0.373000													22	50					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67687894	67687894	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:67687894G>C	ENST00000255674.6	-	45	6396	c.6110C>G	c.(6109-6111)tCa>tGa	p.S2037*	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2037							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGCCAGGTTTGAAAGAAGCAT	0.453000													39	89					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507207	64507207	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:64507207G>A	ENST00000377494.1	-	6	1519	c.597C>T	c.(595-597)ctC>ctT	p.L199L	RASGRP2_ENST00000354024.3_Silent_p.L199L|RASGRP2_ENST00000377497.3_Silent_p.L199L|RASGRP2_ENST00000394432.3_Silent_p.L199L			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	199	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCTGTTGAAGAGGGAGATGA	0.597000													52	113					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543891	54543891	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:54543891G>A	ENST00000566473.2	+	14	1741	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	ANKFN1_ENST00000318698.2_Missense_Mutation_p.E581K			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	581										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATCAACACCTGAGGAGCCAAC	0.398000													6	18					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67052579	67052579	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:67052579G>A	ENST00000308595.5	+	20	2115	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	609	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GATCCAGTCGGTGGAGGAGAC	0.642000													98	231					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632391	67632391	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:67632391C>T	ENST00000272342.5	+	5	2707	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	859						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGAAAGGTGTCAACCCATTAC	0.333000													13	16					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790103	40790103	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:40790103C>G	ENST00000373198.4	-	18	2863	c.2628G>C	c.(2626-2628)gaG>gaC	p.E876D	PTPRT_ENST00000373184.1_Missense_Mutation_p.E847D|PTPRT_ENST00000373190.1_Missense_Mutation_p.E856D|PTPRT_ENST00000373187.1_Missense_Mutation_p.E857D|PTPRT_ENST00000373201.1_Missense_Mutation_p.E847D|PTPRT_ENST00000373193.3_Missense_Mutation_p.E860D|PTPRT_ENST00000356100.2_Missense_Mutation_p.E866D	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTAGCTCATCTCCACAGGGT	0.617000													47	99					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142567929	142567929	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:142567929G>C	ENST00000389484.3	-	2	1095	c.124C>G	c.(124-126)Cac>Gac	p.H42D	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	42	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		CAAGTCACGTGATCGTGGCAA	0.448000										TSP Lung(27;0.18)			15	26					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73914310	73914310	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:73914310G>A	ENST00000586717.1	-	20	2410	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L	FBF1_ENST00000319129.5_Silent_p.L712L|FBF1_ENST00000389570.4_Silent_p.L713L			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	712										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AGCCGCTGCAGCTGCTCCTCG	0.652000													17	30					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35384294	35384294	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:35384294G>A	ENST00000378495.3	+	21	2833	c.2611G>A	c.(2611-2613)Gac>Aac	p.D871N	UNC13B_ENST00000396787.1_Missense_Mutation_p.D883N|UNC13B_ENST00000378496.4_Missense_Mutation_p.D871N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	871					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGAGGATCGACCTCTCTAC	0.463000													37	86					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072368	240072368	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:240072368G>C	ENST00000255380.4	+	5	2396	c.1617G>C	c.(1615-1617)gtG>gtC	p.V539V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	539					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACAGCACCGTGAACCCCGTGT	0.478000													28	66					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42883834	42883834	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:42883834C>T	ENST00000304672.1	+	1	108	c.27C>T	c.(25-27)ctC>ctT	p.L9L	PTCRA_ENST00000441198.1_Silent_p.L9L|PTCRA_ENST00000446507.1_Silent_p.L9L	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	9						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGCTACTTCTCCTGGCCCTTG	0.642000													43	69					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701506	139701506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:139701506G>T	ENST00000338005.6	+	13	1509	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	492										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GAACCGGGAGGAGGATATGAT	0.642000													16	53					1.15088e-07	1.18997e-07	1	1	0
PER3	8863	broad.mit.edu	37	1	7887205	7887205	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:7887205C>T	ENST00000377532.3	+	17	2440	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Missense_Mutation_p.S731L			P56645	PER3_HUMAN	period circadian clock 3	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G733fs*115(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACGCGGTCGGCCGGCTGC	0.552000													10	31					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18135878	18135878	+	Silent	SNP	C	C	T	rs147342699		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:18135878C>T	ENST00000316843.4	+	3	345	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	83					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGATGCACTTCTTGACCGGCC	0.592000													19	40					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40265833	40265833	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:40265833C>T	ENST00000225916.5	-	18	2401	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	783	Bromo.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGCGGCTTCGCAGCCGCTC	0.642000													9	36					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32429704	32429704	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:32429704G>C	ENST00000282587.5	+	11	748	c.711G>C	c.(709-711)ttG>ttC	p.L237F	SLC30A6_ENST00000406369.1_Missense_Mutation_p.L163F|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L277F|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L40F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L237F|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L208F	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	237						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTATTGCCTTGATGACATTTG	0.373000													9	30					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769490	148769490	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:148769490C>G	ENST00000316286.9	-	3	388	c.116G>C	c.(115-117)gGa>gCa	p.G39A	ZNF786_ENST00000491431.1_Missense_Mutation_p.G125A|ZNF786_ENST00000451334.3_Missense_Mutation_p.G88A			Q8N393	ZN786_HUMAN	zinc finger protein 786	125	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AACAAAGGATCCAAAGGAACA	0.502000													7	19					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32379464	32379464	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:32379464G>A	ENST00000315285.3	+	17	1875	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	SPAST_ENST00000345662.1_Missense_Mutation_p.D552N	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	584	Sufficient for microtubule severing.		D -> H (in SPG4).		cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCGATTATCTGACTTCACTGA	0.343000													10	23					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461965	5461965	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:5461965C>T	ENST00000345221.3	-	4	2605	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	NLRP1_ENST00000262467.5_Missense_Mutation_p.R684K|NLRP1_ENST00000354411.3_Missense_Mutation_p.R684K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.R684K|NLRP1_ENST00000572272.1_Missense_Mutation_p.R684K|NLRP1_ENST00000577119.1_Missense_Mutation_p.R684K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	684					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCCATCTCTCTCTCCCCCTC	0.532000													38	99					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641030	156641030	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:156641030C>T	ENST00000368223.3	-	4	3082	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	984	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCATCCTGCTCCCTCAGATTC	0.592000													132	343					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98413397	98413397	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:98413397C>G	ENST00000186436.5	-	27	3151	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	975						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTCAAGTTCTCAGTTGTTCCT	0.413000													9	22					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081393	157081393	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:157081393C>T	ENST00000362010.2	-	9	1802	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	VEPH1_ENST00000543418.1_Missense_Mutation_p.E499K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E499K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E499K|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	499						plasma membrane		p.E499K(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGTGATCTCTCAGTGTCTGTC	0.428000													24	59					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114203816	114203816	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:114203816G>C	ENST00000434316.2	+	13	2356	c.1997G>C	c.(1996-1998)aGg>aCg	p.R666T	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	666						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCAATCACGAGGTGTGTGCCC	0.602000													33	37					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77784954	77784954	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:77784954C>G	ENST00000380345.2	-	5	1128	c.453G>C	c.(451-453)ttG>ttC	p.L151F	LHFPL2_ENST00000515007.2_Missense_Mutation_p.L151F	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	151						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGTAGAGTATCAAACCGAGGA	0.473000													31	44					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25458586	25458586	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:25458586C>T	ENST00000264709.3	-	22	2924	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E863K|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E674K|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E640K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	863					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.C861_R866del(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTCCATTTCAGTGCACCAT	0.512000			"""Mis, F, N, S"""		AML								24	44					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381318	102381318	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:102381318G>A	ENST00000419462.1	+	0	730					NR_002182.1																						AATTGATGAAGAACCAGTCAG	0.473000													22	74					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124293420	124293420	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:124293420G>C	ENST00000409039.3	+	18	2735	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	904	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GACGGCACCTGAGATCATCCT	0.468000													101	207					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832678	131832678	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:131832678C>G	ENST00000359827.3	-	27	5807	c.4845G>C	c.(4843-4845)agG>agC	p.R1615S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1615S			Q9HCM2	PLXA4_HUMAN	plexin A4	1615						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGCTGAGGTCCTGGAGACGG	0.537000													22	48					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13167528	13167528	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:13167528C>G	ENST00000378748.3	+	11	1471	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	OPTN_ENST00000263036.5_Nonsense_Mutation_p.S370*|OPTN_ENST00000378752.3_Nonsense_Mutation_p.S364*|OPTN_ENST00000378747.3_Nonsense_Mutation_p.S370*|OPTN_ENST00000378757.2_Nonsense_Mutation_p.S370*|OPTN_ENST00000378764.2_Nonsense_Mutation_p.S364*	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	370					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			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGCATGCTATCAGAAATCAAA	0.398000													20	74					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39531042	39531042	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:39531042C>T	ENST00000537403.1	-	9	2028	c.826G>A	c.(826-828)Gca>Aca	p.A276T	SEC23A_ENST00000545328.2_Missense_Mutation_p.A449T|SEC23A_ENST00000307712.6_Missense_Mutation_p.A478T|SEC23A_ENST00000536508.1_Missense_Mutation_p.A352T			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	478					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AACTGGATTGCACCACGCCCT	0.403000													30	65					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21991877	21991877	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:21991877G>C	ENST00000268379.4	+	13	1898	c.1134G>C	c.(1132-1134)ctG>ctC	p.L378L	UQCRC2_ENST00000561553.1_Intron	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	378					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GGAACAAGCTGAAAGCTGGAT	0.468000													22	33					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531776	6531776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:6531776G>A	ENST00000361413.3	-	3	737	c.379C>T	c.(379-381)Caa>Taa	p.Q127*	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	127						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGAGAGCTTTGAGGCTGACTT	0.433000													15	33					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10523102	10523102	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:10523102G>A	ENST00000444303.2	+	11	1802	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Missense_Mutation_p.A612T	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	603					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTTCCTCACTGCTGACAACAT	0.642000													24	56					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280781	47280781	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:47280781C>G	ENST00000271153.4	+	8	951	c.915C>G	c.(913-915)ctC>ctG	p.L305L	CYP4B1_ENST00000452782.2_Silent_p.L143L|CYP4B1_ENST00000371923.4_Silent_p.L306L|CYP4B1_ENST00000371919.4_Silent_p.L291L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	305					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ATGCAGACCTCCGGGCTGAAG	0.502000													17	51					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408470	2408470	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:2408470C>T	ENST00000332578.3	+	7	857	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	286	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTGTACAACGCGGACACGGCC	0.672000													55	127					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141609294	141609294	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:141609294G>C	ENST00000389484.3	-	28	5609	c.4638C>G	c.(4636-4638)atC>atG	p.I1546M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1546					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TATTGTGATTGATTAGACACA	0.433000										TSP Lung(27;0.18)			34	77					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152560832	152560832	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:152560832G>T	ENST00000367255.5	-	108	20504	c.19903C>A	c.(19903-19905)Cag>Aag	p.Q6635K	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6564K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6564K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6635K|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1159K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6247K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6635					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			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)		TCCAGGCCCTGAAAGTATTCC	0.423000										HNSCC(10;0.0054)			11	15					0.000151284	0.000153748	1	1	0
LHFPL2	10184	broad.mit.edu	37	5	77784877	77784877	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:77784877C>G	ENST00000380345.2	-	5	1205	c.530G>C	c.(529-531)gGa>gCa	p.G177A	LHFPL2_ENST00000515007.2_Missense_Mutation_p.G177A	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	177						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGCAGTCTCCAGGTTTGTA	0.512000													31	46					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035003	107035003	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:107035003G>A	ENST00000390626.2	-	0	135																											CTCTGCTCCAGACTGCACCAG	0.562000													9	33					0	0	1	0	0
MYL6B	140465	broad.mit.edu	37	12	56547837	56547837	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:56547837G>A	ENST00000553066.1	+	2	557	c.135G>A	c.(133-135)caG>caA	p.Q45Q	MYL6B_ENST00000552568.1_Silent_p.Q45Q|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Silent_p.Q45Q|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Silent_p.Q45Q			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	45					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGCCCCTCAGAAAACCCAGG	0.587000													10	41					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110729593	110729593	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:110729593G>C	ENST00000368924.3	-	3	324	c.309C>G	c.(307-309)ctC>ctG	p.L103L	DDO_ENST00000368923.3_Silent_p.L103L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	75					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAATTGCAAAGAGGTGATTAA	0.393000													16	58					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948755	38948755	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:38948755G>C	ENST00000355481.4	+	18	2121	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E664Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E664Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	664	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATGGTACTTTGAGGTGATGGT	0.627000													31	85					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57322854	57322854	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:57322854G>C	ENST00000284116.4	+	3	402	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	GDPD1_ENST00000581140.1_Missense_Mutation_p.E89Q|GDPD1_ENST00000581276.1_Missense_Mutation_p.E89Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	89	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTCACATGATGAGAATCTAAA	0.348000													18	34					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17373573	17373573	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:17373573G>C	ENST00000242057.4	+	7	1386	c.743G>C	c.(742-744)gGa>gCa	p.G248A		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	248					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TATCTTCATGGACAGAAAAAG	0.353000													17	31					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336806	126336806	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:126336806C>A	ENST00000394329.3	+	5	6701	c.6688C>A	c.(6688-6690)Cag>Aag	p.Q2230K	FAT4_ENST00000335110.5_Missense_Mutation_p.Q528K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2230	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTAACTGTTCAGGCAACAGA	0.443000													31	65					9.65021e-13	1.02063e-12	1	1	0
LYST	1130	broad.mit.edu	37	1	235827817	235827817	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:235827817C>G	ENST00000389794.3	-	51	11317	c.11143G>C	c.(11143-11145)Gag>Cag	p.E3715Q	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E3715Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3715					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATACTCCCTCAGGCTGGTTG	0.468000													20	31					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879026	151879026	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:151879026C>T	ENST00000355193.2	-	36	6137	c.5919G>A	c.(5917-5919)gtG>gtA	p.V1973V	KMT2C_ENST00000262189.6_Silent_p.V1973V					lysine (K)-specific methyltransferase 2C									p.V1973V(1)									GATCTGTCATCACAGGCCTAG	0.468000													98	204					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921605	150921605	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:150921605G>A	ENST00000271640.5	+	11	1465	c.1275G>A	c.(1273-1275)gtG>gtA	p.V425V	SETDB1_ENST00000368969.4_Silent_p.V425V|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGGTGCTGTGAGGAGCAAAG	0.473000													22	42					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24873930	24873930	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:24873930G>A	ENST00000347898.3	+	3	766	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SLC5A11_ENST00000545376.1_Silent_p.V48V|SLC5A11_ENST00000568579.1_Silent_p.V48V|SLC5A11_ENST00000539472.1_5'UTR|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000567758.1_Silent_p.V48V|SLC5A11_ENST00000424767.2_Silent_p.V48V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	48					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGTCCACAGTGAAGACCAAAA	0.478000													13	19					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69079862	69079862	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:69079862C>T	ENST00000465139.2	-	3	360	c.217G>A	c.(217-219)Gat>Aat	p.D73N	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.D73N	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	73					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						ACTCTGTTATCGCTTAGTTCA	0.463000													15	61					0	0	1	0	0
RAB9B	51209	broad.mit.edu	37	X	103080336	103080336	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:103080336C>T	ENST00000243298.2	-	3	663	c.379G>A	c.(379-381)Gac>Aac	p.D127N		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	127					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TCCTCTTTGTCTACCTTGTTA	0.433000													98	59					0	0	1	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240772	26240772	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:26240772G>A	ENST00000377745.2	+	1	212	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	40					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGCTTGGCCCGACGCGGCGGC	0.582000													9	32					0	0	1	0	0
RP4-583P15.15	0	broad.mit.edu	37	20	62366842	62366842	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:62366842G>A	ENST00000490623.2	+	5	1040	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K	ZGPAT_ENST00000369967.3_Silent_p.Q441Q|ZGPAT_ENST00000448100.2_Silent_p.Q441Q|ZGPAT_ENST00000328969.5_Silent_p.Q461Q|ZGPAT_ENST00000355969.6_Silent_p.Q441Q|ZGPAT_ENST00000357119.4_Silent_p.Q432Q																							GGCTCTTCCAGACTGAGGAGA	0.677000													13	25					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64178828	64178828	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:64178828C>G	ENST00000261234.6	+	3	562	c.404C>G	c.(403-405)tCa>tGa	p.S135*	TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	135						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAGGAAAGTCAATCGTAGGA	0.368000													9	34					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249587	177249587	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:177249587C>G	ENST00000361539.4	+	8	1587	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	425																	AGTCCCTCCTCTACTGTGGGG	0.532000													30	53					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6805382	6805382	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:6805382G>C	ENST00000403107.1	+	6	1006	c.619G>C	c.(619-621)Gac>Cac	p.D207H	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.D207H|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.D207H|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.D207H|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000463354.2_Intron					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GTACGAGGGAGACTGGGTACA	0.443000													12	50					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76107351	76107351	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:76107351C>G	ENST00000238667.4	+	7	1645	c.1289C>G	c.(1288-1290)aCg>aGg	p.T430R	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Missense_Mutation_p.T225R|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.T145R	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	430			T -> M (in PVHH).|T -> R (in PVHH).		transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGGAGCTCACGTACCCAGAA	0.493000													18	77					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711499	135711499	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:135711499G>A	ENST00000264157.5	+	9	1504	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	CCNT2_ENST00000295238.6_Missense_Mutation_p.E492K|CCNT2_ENST00000537343.1_Missense_Mutation_p.E317K	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	492					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			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CGCAAATACTGAAAAATACAT	0.423000													10	28					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179109794	179109794	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:179109794G>C	ENST00000471841.1	+	18	2299	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	MFN1_ENST00000280653.7_Missense_Mutation_p.E614Q|MFN1_ENST00000263969.5_Missense_Mutation_p.E725Q	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	725					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACTTGAAAATGAGCTGGAGAA	0.313000													7	15					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425429	74425429	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:74425429G>A	ENST00000429990.1	+	7	879	c.783G>A	c.(781-783)ctG>ctA	p.L261L						nuclear pore complex interacting protein family, member B15																		ATAACTCCCTGAGCCTCAAGA	0.522000													13	99					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50400866	50400866	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:50400866C>T	ENST00000217086.4	-	4	3211	c.3100G>A	c.(3100-3102)Gac>Aac	p.D1034N	SALL4_ENST00000395997.3_Missense_Mutation_p.D597N|SALL4_ENST00000371539.3_Missense_Mutation_p.D257N	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1034					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAACGCCGTCAGTAGCACTT	0.522000													24	82					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716494	45716494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:45716494G>C	ENST00000413988.1	-	10	1103	c.1063C>G	c.(1063-1065)Cgg>Ggg	p.R355G	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R355G|AC006126.3_ENST00000591569.1_Intron	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	355										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCACGGTCCCGAGGGGGTGAC	0.687000													9	34					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6968694	6968694	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:6968694C>T	ENST00000229268.8	+	9	1171	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	USP5_ENST00000389231.5_Silent_p.F373F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	373					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCCAGGATTTCAGCACCCAGG	0.547000													30	70					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	313770	313770	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:313770G>C	ENST00000399932.3	+	10	1635	c.1184G>C	c.(1183-1185)aGa>aCa	p.R395T	ITFG3_ENST00000301679.2_Missense_Mutation_p.R395T|ITFG3_ENST00000442458.2_Missense_Mutation_p.R395T|ITFG3_ENST00000301678.3_Missense_Mutation_p.R395T|ITFG3_ENST00000450082.2_Missense_Mutation_p.R395T|ITFG3_ENST00000600536.1_Missense_Mutation_p.R395T	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	395						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGCACCGACAGACAGGTTCGT	0.557000													18	24					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176965440	176965440	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:176965440G>A	ENST00000406506.2	+	2	837	c.765G>A	c.(763-765)atG>atA	p.M255I	HOXD12_ENST00000404162.2_3'UTR			P35452	HXD12_HUMAN	homeobox D12	255						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACAGGCGTATGAAGAAGAAGC	0.567000													12	38					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154145441	154145441	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:154145441G>C	ENST00000389740.2	-	2	1137	c.1038C>G	c.(1036-1038)ttC>ttG	p.F346L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	346						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTAGAAAGCTGAATGTCTCCA	0.512000													14	38					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205110	61205110	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:61205110C>G	ENST00000301761.2	+	2	124	c.50C>G	c.(49-51)tCa>tGa	p.S17*	RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000543265.1_Nonsense_Mutation_p.S17*|RP11-286N22.8_ENST00000543044.1_Nonsense_Mutation_p.S5*|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Nonsense_Mutation_p.S17*|SDHAF2_ENST00000537782.1_Nonsense_Mutation_p.S17*	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	17					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CTTGCTCTGTCAAGGCACAGC	0.418000													42	110					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105992001	105992001	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:105992001C>T	ENST00000357060.3	-	1	119	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	WDR96_ENST00000369720.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.A2T|WDR96_ENST00000278064.2_5'UTR|WDR96_ENST00000369719.1_5'UTR	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	2										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGGCCTTGCGCCATGGGCAGT	0.746000													4	15					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542756	26542756	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:26542756G>A	ENST00000381655.2	+	35	3458	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E1041K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1066					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGAGGTGCAGGAGCTGGAAAC	0.532000													20	40					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77423861	77423861	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:77423861A>G	ENST00000255194.6	-	17	2136	c.1961T>C	c.(1960-1962)aTa>aCa	p.I654T	AP3B1_ENST00000519295.1_Missense_Mutation_p.I605T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	654					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			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)		TACCAACTCTATTACTTCTAC	0.383000									Hermansky-Pudlak syndrome				20	28					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796191	4796191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:4796191G>T	ENST00000266544.5	+	11	1071	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	NDUFA9_ENST00000540688.1_Nonsense_Mutation_p.E110*|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	351					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CAAGGCCATTGAGGTGCTGCG	0.517000													6	34					0.0215528	0.0217093	1	1	0
ASCL4	121549	broad.mit.edu	37	12	108169067	108169067	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:108169067G>A	ENST00000342331.4	+	1	906	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	24					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						TGGGCGTTCCGGGGACCCTGC	0.701000													31	62					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254993	3254993	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:3254993C>T	ENST00000304646.2	+	1	747	c.747C>T	c.(745-747)ctC>ctT	p.L249L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTGTGGTTCTCCTCTTCTACA	0.488000													42	68					0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56552256	56552256	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:56552256G>A	ENST00000536128.1	+	1	111	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R24Q|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGTGGGGGGCGAGGAGAAGGC	0.637000													7	18					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793453	52793453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:52793453C>T	ENST00000439461.1	+	4	452	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Nonsense_Mutation_p.Q152*|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Nonsense_Mutation_p.Q152*	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAATCAAGTTCAAAAGTTCAT	0.358000													12	41					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167325	89167325	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:89167325C>T	ENST00000317447.4	+	3	613	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.S79F	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	79					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTTCGCCTGTCCCAGGAGATC	0.647000													27	83					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43190562	43190562	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:43190562G>C	ENST00000252050.4	+	38	7162	c.7078G>C	c.(7078-7080)Gag>Cag	p.E2360Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E2332Q|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.E2250Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2360					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCAGGACGCAGAGTACATGGA	0.632000													42	91					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25937225	25937225	+	Splice_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:25937225G>C	ENST00000398988.3	+	19	2457		c.e19+1		KSR1_ENST00000268763.6_Splice_Site|KSR1_ENST00000319524.6_Splice_Site|KSR1_ENST00000509603.2_Splice_Site|KSR1_ENST00000582410.1_Splice_Site	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1						Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATGCATTTGGGTGAGTAGGCC	0.582000											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	83					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105425607	105425607	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:105425607C>T	ENST00000258494.9	-	20	2490	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	784	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACTCCAGTTTCACAGTATTGC	0.483000													30	67					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23713787	23713787	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:23713787C>A	ENST00000450454.2	-	9	1051	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	315					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			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)		TGCAGTTCTTCTTCTTGCATT	0.572000													16	27					7.21436e-19	7.76836e-19	1	1	0
MRAP2	112609	broad.mit.edu	37	6	84765049	84765049	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:84765049G>C	ENST00000257776.4	+	2	147	c.12G>C	c.(10-12)caG>caC	p.Q4H		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	4					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCCGCCCAGAGGTTAATTT	0.433000													19	46					0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52027803	52027803	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:52027803G>C	ENST00000466397.1	-	4	582	c.442C>G	c.(442-444)Ccc>Gcc	p.P148A	RPL29_ENST00000495383.1_Missense_Mutation_p.P148A|RPL29_ENST00000294189.6_Missense_Mutation_p.P148A|RPL29_ENST00000475248.1_Missense_Mutation_p.P148A|RPL29_ENST00000479017.1_Missense_Mutation_p.P148A			P47914	RL29_HUMAN	ribosomal protein L29	148					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTACGTTTGGGAGCCTGAGCT	0.627000													27	87					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21013867	21013867	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:21013867C>T	ENST00000382812.1	-	5	465	c.237G>A	c.(235-237)ctG>ctA	p.L79L	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Silent_p.L101L			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	101					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TCTTCTTCTTCAGTTCTAGAT	0.408000													24	70					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125325	126125325	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:126125325C>T	ENST00000373631.3	+	2	277	c.276C>T	c.(274-276)ttC>ttT	p.F92F	CRB2_ENST00000359999.3_Silent_p.F92F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	92	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACCGGCTTCCGCTGCTACT	0.692000													18	66					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89180833	89180833	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:89180833A>G	ENST00000317447.4	+	6	1441	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.Y90C|ACSF3_ENST00000406948.3_Missense_Mutation_p.Y355C	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	355					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTGGAGCGGTATGGCATGACC	0.642000													39	152					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107283	21107283	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:21107283C>T	ENST00000255882.6	-	25	2981	c.2895G>A	c.(2893-2895)gaG>gaA	p.E965E	PI4KA_ENST00000572273.1_Silent_p.E907E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	907					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAGCGTGCCGCTCCAGCTCCT	0.527000													30	81					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990621	33990621	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:33990621C>T	ENST00000373381.4	-	66	10433	c.10257G>A	c.(10255-10257)aaG>aaA	p.K3419K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3275						integral to membrane|plasma membrane	protein binding			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)				ACAGGGAATTCTTGGCAAAAA	0.502000													39	127					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37620707	37620707	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr21:37620707G>C	ENST00000399151.3	+	21	4924	c.4839G>C	c.(4837-4839)ttG>ttC	p.L1613F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1613					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGCCAACTTGAGGAATGCCA	0.473000													31	81					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153634910	153634910	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:153634910G>C	ENST00000361891.4	-	14	1260	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	379					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			tcctctccttgaggtggttct	0.488000													11	27					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	294307	294307	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:294307C>G	ENST00000397962.3	+	13	1687	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	ZMYND11_ENST00000545619.1_Missense_Mutation_p.S300C|ZMYND11_ENST00000309776.4_Missense_Mutation_p.S380C|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S420C|ZMYND11_ENST00000602682.1_Missense_Mutation_p.S335C|ZMYND11_ENST00000535374.1_Missense_Mutation_p.S215C|ZMYND11_ENST00000397959.3_Missense_Mutation_p.S335C|ZMYND11_ENST00000402736.1_Missense_Mutation_p.S389C|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381602.4_Missense_Mutation_p.S380C|ZMYND11_ENST00000403354.1_Missense_Mutation_p.S340C|ZMYND11_ENST00000381591.1_Missense_Mutation_p.S420C|ZMYND11_ENST00000381604.4_Missense_Mutation_p.S380C|ZMYND11_ENST00000381584.1_Missense_Mutation_p.S403C|ZMYND11_ENST00000509513.2_Missense_Mutation_p.S419C|ZMYND11_ENST00000381607.4_Missense_Mutation_p.S326C			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	380	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCAGTAAGTTCTAGCCAGGAA	0.468000													63	77					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6170532	6170532	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:6170532G>C	ENST00000262450.3	-	37	5403	c.5304C>G	c.(5302-5304)ctC>ctG	p.L1768L	CHD5_ENST00000378021.1_Silent_p.L625L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1768					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGGGCTCGTTGAGGATCATGT	0.572000													18	64					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228494791	228494791	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:228494791G>C	ENST00000570156.2	+	56	15061	c.14987G>C	c.(14986-14988)gGa>gCa	p.G4996A	OBSCN_ENST00000422127.1_Missense_Mutation_p.G4039A|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1158A|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1673A|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4039A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4039					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			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)				CTGGTACGCGGAGTGGAGCAG	0.642000													20	36					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677376	55677376	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:55677376G>A	ENST00000527223.2	-	3	283	c.282C>T	c.(280-282)atC>atT	p.I94I	DNAAF3_ENST00000524407.2_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Intron	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	28																	GACCTGGCAAGATGACAGCTG	0.597000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26776254	26776254	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:26776254C>G	ENST00000529632.2	+	16	3231	c.3035C>G	c.(3034-3036)tCt>tGt	p.S1012C	SEZ6L_ENST00000411842.2_3'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S1022C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S795C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S719C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S1023C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S947C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S948C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	1023						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TATGAGGTTTCTATCTAAAGA	0.458000													37	105					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092809	27092809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:27092809C>T	ENST00000324856.7	+	9	3201	c.2830C>T	c.(2830-2832)Cag>Tag	p.Q944*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q944*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q561*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	944					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q944*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATCAACCCTCAGGGACCCCC	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								27	59					0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143746288	143746288	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:143746288G>A	ENST00000507178.2	-	0	1522									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ctcctcctcagaggaggagcc	0.622000													4	14					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560546	35560546	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:35560546G>C	ENST00000455600.1	+	10	4478	c.3909G>C	c.(3907-3909)aaG>aaC	p.K1303N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1303						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCGAGAAAAAGAAAGGGGCAG	0.642000													15	41					0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6942600	6942600	+	Splice_Site	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrY:6942600G>A	ENST00000383032.1	+	13	1541		c.e13-1		TBL1Y_ENST00000346432.3_Splice_Site|TBL1Y_ENST00000355162.2_Splice_Site	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked						transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GCGGAGCACAGACAACAATAA	0.358000													28	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086320	9086320	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:9086320G>C	ENST00000397910.4	-	1	5698	c.5495C>G	c.(5494-5496)tCt>tGt	p.S1832C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1832	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GAGAGTGAGAGAAATCCATGG	0.488000													22	54					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7550886	7550886	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:7550886C>A	ENST00000313599.3	-	7	1760	c.1703G>T	c.(1702-1704)aGa>aTa	p.R568I	CD163L1_ENST00000396630.1_Missense_Mutation_p.R568I|CD163L1_ENST00000416109.2_Missense_Mutation_p.R578I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	568	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACATCCTCTCTGTGTACACA	0.408000													22	47					1.36565e-18	1.46925e-18	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58565904	58565904	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:58565904C>T	ENST00000317147.5	-	42	6467	c.6135G>A	c.(6133-6135)cgG>cgA	p.R2045R	CNOT1_ENST00000569240.1_Silent_p.R2040R|CNOT1_ENST00000245138.4_Silent_p.R896R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2045					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATAAATATCCGATGGGAAA	0.428000													20	65					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	153998570	153998570	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:153998570C>T	ENST00000496811.1	-	21	2538	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	DHX36_ENST00000329463.5_Missense_Mutation_p.E806K|DHX36_ENST00000544526.1_Missense_Mutation_p.E806K|DHX36_ENST00000308361.6_Missense_Mutation_p.E791K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	820						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATATTAGATTCTGGATCTTTA	0.368000													8	23					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32672864	32672864	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:32672864G>A	ENST00000537469.1	+	5	869	c.822G>A	c.(820-822)ctG>ctA	p.L274L	IQCC_ENST00000291358.6_Silent_p.L194L	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	194										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAAACACTGAGATCCCCAG	0.572000													41	114					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428026	74428026	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:74428026C>A	ENST00000334571.2	+	9	1082	c.1042C>A	c.(1042-1044)Ctt>Att	p.L348I	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.L323I|COQ6_ENST00000238709.4_Missense_Mutation_p.L273I|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	348					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TCTGTTTCCTCTTGGGTTGGG	0.587000													9	55					1.76689e-08	1.82994e-08	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40122579	40122579	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:40122579G>A	ENST00000261435.6	+	9	3264	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	950						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGGAAGTTCTGAAATGCTGCT	0.418000													15	17					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959255	10959255	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:10959255G>A	ENST00000240615.2	-	1	637	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	109					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTATCTTCAGAAAATAGAAG	0.383000													13	53					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12865507	12865507	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:12865507G>A	ENST00000549706.1	+	4	713	c.389G>A	c.(388-390)cGc>cAc	p.R130H	BEST2_ENST00000042931.1_Missense_Mutation_p.R130H|BEST2_ENST00000553030.1_Missense_Mutation_p.R130H			Q8NFU1	BEST2_HUMAN	bestrophin 2	130					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						ACACTCATGCGCTACGCAGGG	0.682000													5	11					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139845347	139845347	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:139845347C>G	ENST00000303045.6	-	5	1226	c.780G>C	c.(778-780)aaG>aaC	p.K260N	COL22A1_ENST00000435777.1_Missense_Mutation_p.K260N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	260	TSP N-terminal.				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)			CATTCTCTCTCTTCCCCAAGA	0.483000										HNSCC(7;0.00092)			21	53					0	0	1	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519426	28519426	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:28519426C>G	ENST00000381026.3	+	1	84	c.30C>G	c.(28-30)ctC>ctG	p.L10L																	ovary(1)	1						AGGCTGGACTCAGCTACATCC	0.478000													3	27					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502251	12502251	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:12502251G>C	ENST00000419318.1	-	4	1614	c.865C>G	c.(865-867)Ctg>Gtg	p.L289V	ZNF799_ENST00000430385.3_Missense_Mutation_p.L321V|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGCTTCCCAGATGATGAAAC	0.438000													52	138					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21799933	21799933	+	Silent	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:21799933C>A	ENST00000318220.6	+	10	1675	c.627C>A	c.(625-627)atC>atA	p.I209I	NBPF3_ENST00000454000.2_Silent_p.I195I|NBPF3_ENST00000342104.5_Silent_p.I265I|NBPF3_ENST00000318249.5_Silent_p.I265I			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	265						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTGTGCCATCACTTGTTCAA	0.498000													61	135					2.89935e-36	3.15466e-36	1	1	0
STX1B	112755	broad.mit.edu	37	16	31008045	31008045	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:31008045C>T	ENST00000215095.5	-	7	727	c.496G>A	c.(496-498)Gac>Aac	p.D166N	STX1B_ENST00000565419.1_Missense_Mutation_p.D166N	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	166					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCCAGCATGTCTTCCAGTTCT	0.617000													32	84					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996548	120996548	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:120996548C>A	ENST00000392793.1	+	8	2012	c.1741C>A	c.(1741-1743)Cca>Aca	p.P581T	TECTA_ENST00000264037.2_Missense_Mutation_p.P581T			O75443	TECTA_HUMAN	tectorin alpha	581					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTGGCATTCCAATTGGAGA	0.592000													23	48					7.87624e-14	8.38699e-14	1	1	0
GPR112	139378	broad.mit.edu	37	X	135427927	135427927	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:135427927G>C	ENST00000394143.1	+	6	2353	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E483Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E483Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E625Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E688Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	688					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					AGCATTTCATGAGAATACTAC	0.428000													30	16					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560429	101560429	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:101560429C>T	ENST00000536262.2	-	12	1927	c.1369G>A	c.(1369-1371)Gga>Aga	p.G457R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	457					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTCCAATTCCAACCCATAGA	0.388000													10	17					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545714	65545714	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:65545714G>T	ENST00000532090.2	-	2	2460	c.2250C>A	c.(2248-2250)ctC>ctA	p.L750L		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	693							protein binding			lung(1)	1						CATGGCACGTGAGACCAGTGG	0.667000													24	63					9.86323e-18	1.05932e-17	1	1	0
DCN	1634	broad.mit.edu	37	12	91572192	91572192	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:91572192G>C	ENST00000551354.1	-	2	342	c.138C>G	c.(136-138)ttC>ttG	p.F46L	DCN_ENST00000228329.5_Missense_Mutation_p.F46L|DCN_ENST00000425043.1_Missense_Mutation_p.F46L|DCN_ENST00000546745.1_Missense_Mutation_p.F46L|DCN_ENST00000441303.2_Missense_Mutation_p.F46L|DCN_ENST00000550099.1_Missense_Mutation_p.F46L|DCN_ENST00000052754.5_Missense_Mutation_p.F46L|DCN_ENST00000420120.2_Missense_Mutation_p.F46L|DCN_ENST00000552962.1_Missense_Mutation_p.F46L|DCN_ENST00000393155.1_Missense_Mutation_p.F46L|DCN_ENST00000547568.2_Missense_Mutation_p.F46L|DCN_ENST00000303320.3_Missense_Mutation_p.F46L|DCN_ENST00000456569.2_Missense_Mutation_p.F46L|DCN_ENST00000546370.1_Missense_Mutation_p.F46L			P07585	PGS2_HUMAN	decorin	46					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GGGAGGGCTCGAAGTCGCGGT	0.527000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	99					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832424	113832424	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:113832424G>A	ENST00000393197.2	+	3	664	c.243G>A	c.(241-243)ctG>ctA	p.L81L	IL1F10_ENST00000337569.3_Silent_p.L81L|IL1F10_ENST00000341010.2_Silent_p.L81L	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	81						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CCCTACAGCTGGAGGTGAGAG	0.622000													9	26					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434145	72434145	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:72434145C>T	ENST00000373517.3	-	1	539	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	62					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTATCTTCACCGTTTTCCCCT	0.562000													14	15					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066895	9066895	+	Missense_Mutation	SNP	C	C	T	rs61995732		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:9066895C>T	ENST00000397910.4	-	3	20754	c.20551G>A	c.(20551-20553)Gaa>Aaa	p.E6851K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GTTGTAGGTTCTGGGCTTGTG	0.483000													29	57					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376858	94376858	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:94376858G>A	ENST00000282020.4	+	11	1849	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	GRID2_ENST00000510992.1_Missense_Mutation_p.E436K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	531					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			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)	TCCAGATCGTGAAAATGTGGT	0.418000													10	59					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080462	5080462	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:5080462G>A	ENST00000321522.2	-	1	395	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGCTATATTGGAGTGGATTGC	0.438000													11	18					0	0	1	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197201	89197201	+	RNA	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:89197201C>T	ENST00000390244.2	+	0	309																											CACCTCGATTCAGTGGCAGCG	0.403000													32	89					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752305	247752305	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:247752305C>T	ENST00000320065.1	+	1	644	c.644C>T	c.(643-645)tCa>tTa	p.S215L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGCCTGTCTCATTCATCCTG	0.522000													22	64					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7025882	7025882	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:7025882C>G	ENST00000535366.1	+	3	855	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	ENO2_ENST00000538763.1_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.L77V|ENO2_ENST00000544774.1_Intron|ENO2_ENST00000545045.2_Missense_Mutation_p.L77V|ENO2_ENST00000229277.1_Missense_Mutation_p.L77V			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	77					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CGCGCCAGCCCTCATCAGCTC	0.622000													30	76					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112025817	112025817	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:112025817C>T	ENST00000371959.3	-	8	2190	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	AMOT_ENST00000371958.1_Missense_Mutation_p.E499K|AMOT_ENST00000371962.1_Missense_Mutation_p.E499K|AMOT_ENST00000524145.1_Missense_Mutation_p.E731K|AMOT_ENST00000304758.1_Missense_Mutation_p.E322K	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	731					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATTTCTTCCTCCTCTTTCTGG	0.473000													44	20					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11757537	11757537	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:11757537G>A	ENST00000262442.4	+	50	9793	c.9725G>A	c.(9724-9726)aGg>aAg	p.R3242K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3242K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAAGCCATCAGGCCGTATCTG	0.498000													65	150					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20611004	20611004	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:20611004C>T	ENST00000382869.3	+	12	2498	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	ZMYM2_ENST00000382874.2_Silent_p.F749F|ZMYM2_ENST00000382871.2_Silent_p.F749F|ZMYM2_ENST00000382883.3_Silent_p.F231F	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGAGAGATTTCTGCAGTGAAG	0.383000													8	15					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53577926	53577926	+	Silent	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:53577926G>C	ENST00000342160.3	-	64	9778	c.9321C>G	c.(9319-9321)ctC>ctG	p.L3107L	HUWE1_ENST00000262854.6_Silent_p.L3107L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3107					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCATGCATGAGCTGTCGCT	0.577000													21	16					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27903450	27903450	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:27903450C>G	ENST00000225394.3	-	14	1647	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	GIT1_ENST00000394869.3_Missense_Mutation_p.E476Q|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.E467Q|GIT1_ENST00000581348.1_Missense_Mutation_p.E476Q	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	467					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGCAGGTTCTCCGCCTGCAGC	0.672000													28	62					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78187030	78187030	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:78187030C>G	ENST00000535157.1	+	21	1386	c.1216C>G	c.(1216-1218)Caa>Gaa	p.Q406E	SCEL_ENST00000349847.3_Missense_Mutation_p.Q448E|SCEL_ENST00000377246.3_Missense_Mutation_p.Q428E|SCEL_ENST00000469982.1_3'UTR	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	448	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTTTAGGAACCAAGACTTGGA	0.289000													12	17					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70778474	70778474	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:70778474C>T	ENST00000261776.5	-	13	1640	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	460					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			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)				CCAGGTCCTTCAGGATCACCT	0.662000													28	49					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941438	153941438	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:153941438G>C	ENST00000368607.3	+	3	473	c.207G>C	c.(205-207)ttG>ttC	p.L69F	CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368601.1_Missense_Mutation_p.L69F|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L49F|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L69F|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L69F	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	69					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGATTTCTTGAAGCTTTTCA	0.483000													16	41					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83810076	83810076	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:83810076C>T	ENST00000398309.2	-	5	794	c.324G>A	c.(322-324)ctG>ctA	p.L108L	DLG2_ENST00000543673.1_Silent_p.L213L|DLG2_ENST00000531015.1_Silent_p.L75L|DLG2_ENST00000532653.1_Silent_p.L108L|DLG2_ENST00000376104.2_Silent_p.L213L|DLG2_ENST00000330014.6_Silent_p.L47L|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398301.2_Silent_p.L147L|DLG2_ENST00000418306.2_Silent_p.L57L|DLG2_ENST00000524982.1_Silent_p.L108L|DLG2_ENST00000280241.8_Silent_p.L147L|DLG2_ENST00000537455.1_5'UTR	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	108	PDZ 1.					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)				TACTGAATCCCAGGCCAGAAT	0.433000													20	34					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205249	236205249	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:236205249G>C	ENST00000264187.6	-	4	1178	c.1096C>G	c.(1096-1098)Cag>Gag	p.Q366E	NID1_ENST00000366595.3_Missense_Mutation_p.Q366E	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	366					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTATGACCTGAGGGTGCTGC	0.542000													16	69					0	0	1	0	0
GCSH	2653	broad.mit.edu	37	16	81118151	81118151	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:81118151G>C	ENST00000315467.3	-	4	465	c.341C>G	c.(340-342)tCt>tGt	p.S114C	GCSH_ENST00000566566.1_Missense_Mutation_p.S114C|RP11-303E16.8_ENST00000564536.1_RNA	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	114						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TGATAAAGGAGAATAGAGTTC	0.333000													6	17					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197030940	197030940	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:197030940G>A	ENST00000367412.1	-	3	468	c.425C>T	c.(424-426)tCt>tTt	p.S142F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	142	Sushi 2.				blood coagulation	extracellular region				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						GGTTGGTTGAGAAGACCATCC	0.373000													14	20					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139279209	139279209	+	Silent	SNP	C	C	T	rs148770130	byFrequency	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:139279209C>T	ENST00000298532.2	-	13	1751	c.1383G>A	c.(1381-1383)gaG>gaA	p.E461E		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	461	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTAACTGTTCCTCTTCTTTTA	0.338000													8	37					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196740421	196740421	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:196740421G>A	ENST00000312428.6	-	38	6364	c.6264C>T	c.(6262-6264)atC>atT	p.I2088I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2088	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGCACACATGATCTGAATGT	0.383000													12	37					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14271011	14271011	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:14271011C>G	ENST00000340736.6	-	9	2025	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.L571L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	576					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGCTCCATCAGCTTCACAG	0.657000													43	89					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94631550	94631550	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:94631550G>A	ENST00000258526.4	+	10	2340	c.2091G>A	c.(2089-2091)ctG>ctA	p.L697L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	697					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAATGATCCTGAAAGGAACCA	0.423000													24	26					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197416	15197416	+	Silent	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:15197416C>A	ENST00000379554.3	+	3	373	c.327C>A	c.(325-327)ctC>ctA	p.L109L	INSC_ENST00000379556.3_Silent_p.L62L|INSC_ENST00000530161.1_Silent_p.L62L|INSC_ENST00000525218.1_Silent_p.L62L|INSC_ENST00000528567.1_Silent_p.L62L|INSC_ENST00000424273.1_Silent_p.L62L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	109					cell differentiation|nervous system development	cytoplasm	binding			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						AGGGTGACCTCATCCTGGCAG	0.617000													21	34					2.37509e-13	2.51836e-13	1	1	0
FGD6	55785	broad.mit.edu	37	12	95483421	95483421	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:95483421G>A	ENST00000343958.4	-	18	4125	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	FGD6_ENST00000546711.1_Missense_Mutation_p.S1301L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1301					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TAAGGCACTTGAAGGAGATTT	0.413000													32	69					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74148318	74148318	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:74148318C>T	ENST00000324896.4	+	16	1747	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	GTF2I_ENST00000346152.4_Missense_Mutation_p.S432L|GTF2I_ENST00000416070.1_Missense_Mutation_p.S412L|GTF2I_ENST00000353920.4_Missense_Mutation_p.S433L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	453					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGCCAGCTTCAGGAGGTAGG	0.363000													24	47					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3428643	3428643	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:3428643G>A	ENST00000356575.4	-	8	1129	c.903C>T	c.(901-903)ctC>ctT	p.L301L	MEGF6_ENST00000294599.4_Silent_p.L196L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	301	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGGGTGTTGAGGCAGCCAT	0.657000													50	105					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675379	3675379	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:3675379G>T	ENST00000344754.4	-	11	2874	c.2875C>A	c.(2875-2877)Cat>Aat	p.H959N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H959N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	959	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			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						GCTTGGCAATGATAGGCCCCA	0.607000													33	52					1.60099e-16	1.71505e-16	1	1	0
FBXO41	150726	broad.mit.edu	37	2	73492622	73492622	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:73492622G>A	ENST00000521871.1	-	5	1767	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	FBXO41_ENST00000295133.5_Missense_Mutation_p.S512L|FBXO41_ENST00000520530.2_Missense_Mutation_p.S451L			Q8TF61	FBX41_HUMAN	F-box protein 41	451						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGACCGCTCTGAGCCCCCGTT	0.716000													5	6					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207930511	207930511	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:207930511C>T	ENST00000358170.2	+	2	406	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	CD46_ENST00000357714.1_Missense_Mutation_p.H84Y|CD46_ENST00000322875.4_Missense_Mutation_p.H84Y|CD46_ENST00000322918.5_Missense_Mutation_p.H84Y|CD46_ENST00000361067.1_Missense_Mutation_p.H84Y|CD46_ENST00000367042.1_Missense_Mutation_p.H84Y|CD46_ENST00000441839.2_Missense_Mutation_p.H84Y|CD46_ENST00000367047.1_Intron|CD46_ENST00000354848.1_Missense_Mutation_p.H84Y|CD46_ENST00000480003.1_Missense_Mutation_p.H84Y|CD46_ENST00000367041.1_Missense_Mutation_p.H84Y|CD46_ENST00000360212.2_Missense_Mutation_p.H84Y|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	84	Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGATCGGAATCATACATGGCT	0.373000													35	63					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230120	69230120	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:69230120C>G	ENST00000542259.1	-	22	3070	c.2619G>C	c.(2617-2619)caG>caC	p.Q873H	FRMD4B_ENST00000478263.1_Missense_Mutation_p.Q579H|FRMD4B_ENST00000398540.3_Missense_Mutation_p.Q927H			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	927						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CCAGGCATCTCTGTGATCCCC	0.562000													34	75					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143078702	143078702	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:143078702C>T	ENST00000322764.5	+	2	383	c.38C>T	c.(37-39)tCg>tTg	p.S13L	ZYX_ENST00000449423.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	13					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					ATCTCCGTTTCGGTCTCGGCT	0.716000													14	22					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852722	53852722	+	Silent	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:53852722C>G	ENST00000331251.3	+	1	1732	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	85					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCGACGAGCTCTTCACGCTGG	0.627000													10	26					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949375	56949375	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:56949375G>A	ENST00000497933.1	+	1	155	c.8G>A	c.(7-9)aGa>aAa	p.R3K		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CACATGCTCAGAAGCCCCACC	0.607000													20	39					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58971386	58971386	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr15:58971386C>T	ENST00000260408.3	-	4	864	c.421G>A	c.(421-423)Gag>Aag	p.E141K	ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	141					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ATATATCTCTCTGCTGGCTCA	0.363000													6	7					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1557133	1557133	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:1557133G>A	ENST00000572621.1	-	37	6430	c.6165C>T	c.(6163-6165)atC>atT	p.I2055I	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Silent_p.I2055I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2055						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			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)		TGGTGGAGGTGATGATCTCAT	0.562000													38	125					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530560	97530560	+	Silent	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:97530560G>T	ENST00000305476.5	-	9	976	c.844C>A	c.(844-846)Cgg>Agg	p.R282R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	282	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CATGCCAGCCGCGCCTTCAGG	0.657000													17	45					0.000566183	0.000574469	1	1	0
DOCK8	81704	broad.mit.edu	37	9	334236	334236	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:334236G>C	ENST00000432829.2	+	11	1249	c.933G>C	c.(931-933)aaG>aaC	p.K311N	DOCK8_ENST00000453981.1_Missense_Mutation_p.K379N|DOCK8_ENST00000469391.1_Missense_Mutation_p.K311N	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	379					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTAAAGAAAAGATTGAAAAAC	0.438000													13	27					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18296069	18296069	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:18296069C>G	ENST00000377671.3	+	7	1130	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	ZNF133_ENST00000538547.1_Missense_Mutation_p.Q97E|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q192E|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q195E|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q97E|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q192E|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q129E	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	192						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CAGCCCAGCTCAGTCAGGGAA	0.537000													41	119					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125467119	125467119	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:125467119C>T	ENST00000308736.2	-	3	425	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	109							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGAGTCTCATCTCAGCTTCGG	0.507000													102	242					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48818500	48818500	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:48818500G>C	ENST00000505658.1	+	4	433	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	LUC7L3_ENST00000544170.1_Missense_Mutation_p.E6Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.E82Q|LUC7L3_ENST00000240304.1_Missense_Mutation_p.E82Q			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	82					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGTTGGCTATGAGAGAGATTT	0.393000													37	89					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124749718	124749718	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:124749718G>C	ENST00000397801.1	+	26	4024	c.3832G>C	c.(3832-3834)Gag>Cag	p.E1278Q	ROBO3_ENST00000543966.1_Missense_Mutation_p.E41Q|ROBO3_ENST00000538940.1_Missense_Mutation_p.E1256Q|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1278					axon midline choice point recognition	integral to membrane	receptor activity			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)		GCCAGAGGAAGAGGCGAGCTG	0.657000													17	36					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270981	65270981	+	RNA	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:65270981G>A	ENST00000534336.1	+	0	5749					NR_002819.2																						TCTATGAAAGGAATAGCATGA	0.308000													13	58					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931576	116931576	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:116931576C>A	ENST00000356083.3	+	3	2132	c.1741C>A	c.(1741-1743)Cag>Aag	p.Q581K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	581	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGACAGCCCCAGCCCAGTCA	0.662000													41	125					1.15505e-17	1.23947e-17	1	1	0
FADS3	3995	broad.mit.edu	37	11	61645631	61645631	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:61645631G>A	ENST00000540820.1	-	6	876	c.804C>T	c.(802-804)ttC>ttT	p.F268F	FADS3_ENST00000525588.1_Silent_p.F240F|FADS3_ENST00000278829.2_Silent_p.F268F|FADS3_ENST00000527697.1_Silent_p.F144F			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	268					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACTCACTCAGGAAGAAGTACA	0.612000													42	128					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:33600726G>A	ENST00000170564.2	+	11	1703	c.1389G>A	c.(1387-1389)agG>agA	p.R463R		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													24	67					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19490763	19490763	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:19490763C>G	ENST00000375267.2	-	33	4687	c.4684G>C	c.(4684-4686)Gat>Cat	p.D1562H	UBR4_ENST00000375254.3_Missense_Mutation_p.D1562H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1562H|UBR4_ENST00000375226.2_Missense_Mutation_p.D1562H			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1562					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCAGCCAATCCACAGCAGCA	0.468000													7	23					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49037966	49037966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:49037966C>T	ENST00000267163.4	+	21	2344	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	736	Domain B.|Pocket; binds T and E1A.				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.?(10)|p.I703_E737del(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)	TCATGCTGTTCAGGAGGTAGG	0.308000		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)			9	15					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33680544	33680544	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:33680544C>A	ENST00000252015.2	-	1	130	c.41G>T	c.(40-42)cGa>cTa	p.R14L	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R14L|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R14L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	14	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGTCTCCCTCGGCCGGCTCC	0.721000													6	8					8.12818e-05	8.2673e-05	1	1	0
AGAP3	116988	broad.mit.edu	37	7	150835352	150835352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:150835352C>T	ENST00000397238.2	+	12	1618	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	504	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CAGCGCCGACCAGTGGAGTGA	0.692000													13	25					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27169835	27169835	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:27169835G>A	ENST00000360046.5	-	1	583	c.518C>T	c.(517-519)cCc>cTc	p.P173L	HOXA4_ENST00000428284.2_Missense_Mutation_p.P173L|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_Intron	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	173	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGGGCAcgcgggggcgctgcc	0.766000													3	9					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65237850	65237850	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:65237850C>T	ENST00000234256.3	+	4	996	c.753C>T	c.(751-753)ttC>ttT	p.F251F	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Silent_p.F31F	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	251					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCCGTTTCTTCAATTCCCTCA	0.498000													25	67					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662512	49662512	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:49662512G>A	ENST00000296452.4	+	2	443	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	110					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R110Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGAGCCCCCGAGAGACAAGG	0.642000													20	37					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21620514	21620514	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:21620514G>C	ENST00000538582.1	+	11	1756	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	PYROXD1_ENST00000240651.9_Missense_Mutation_p.E406Q			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	406							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTTCAGCTTTGAACTGTTTGC	0.403000													26	54					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31815349	31815349	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:31815349G>C	ENST00000375454.3	+	7	901	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	BPIFA3_ENST00000375452.3_Missense_Mutation_p.E195Q|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	231						extracellular region	lipid binding										TACAGAACAGGAGGCTGCTCA	0.562000													35	81					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89590445	89590445	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:89590445G>A	ENST00000268704.2	+	4	423	c.408G>A	c.(406-408)caG>caA	p.Q136Q	SPG7_ENST00000341316.2_Silent_p.Q136Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	136					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGGACGACCAGATGTACCGAG	0.587000													40	33					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163230013	163230013	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:163230013G>C	ENST00000332142.5	-	15	3390	c.3291C>G	c.(3289-3291)atC>atG	p.I1097M		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1097					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTCAGTTTTGATGGATGCTT	0.498000													21	48					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55918416	55918416	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:55918416C>G	ENST00000371263.3	+	13	1200	c.1091C>G	c.(1090-1092)tCt>tGt	p.S364C	SPO11_ENST00000371260.4_Missense_Mutation_p.S322C|SPO11_ENST00000345868.4_Missense_Mutation_p.S326C	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	364					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			ATGGCAGACTCTAAAATGAAG	0.313000								Editing and processing nucleases					16	38					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121187186	121187186	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:121187186G>C	ENST00000264233.5	-	23	6939	c.6811C>G	c.(6811-6813)Caa>Gaa	p.Q2271E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2271					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTACAGCTTGAGAAGGTGGG	0.388000								DNA polymerases (catalytic subunits)					30	73					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535832	145535832	+	Silent	SNP	C	C	A	rs139202082		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr8:145535832C>A	ENST00000528838.1	+	9	1204	c.1044C>A	c.(1042-1044)ctC>ctA	p.L348L	HSF1_ENST00000400780.4_Silent_p.L283L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	348						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TCACAGCCCTCACGGACGCCA	0.697000													16	46					1.5739e-10	1.64233e-10	1	1	0
MYNN	55892	broad.mit.edu	37	3	169496678	169496678	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:169496678C>T	ENST00000349841.5	+	3	1052	c.389C>T	c.(388-390)tCt>tTt	p.S130F	MYNN_ENST00000544106.1_Missense_Mutation_p.S130F|MYNN_ENST00000356716.4_Missense_Mutation_p.S130F|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.S130F	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	130						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACAGAGATATCTAGTATTACT	0.343000													16	31					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74678298	74678298	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:74678298C>T	ENST00000361070.4	-	6	1138	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	RFWD3_ENST00000571750.1_Silent_p.L347L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	347					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCAAAGCTCTCAGGGTTCGGG	0.468000													51	129					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548674	47548674	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:47548674C>T	ENST00000273859.3	+	10	1699	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F	ATP10D_ENST00000504445.1_Missense_Mutation_p.S462F	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	477					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAGCTGTCTCTGAAGATGAA	0.473000													28	37					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8793350	8793350	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:8793350G>A	ENST00000447110.1	-	8	875	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	PIK3R5_ENST00000581552.1_Missense_Mutation_p.R251W|PIK3R5_ENST00000584803.1_Missense_Mutation_p.R251W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	251				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGAGCCACCGCCGGGCCTCT	0.617000													36	71					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37883949	37883949	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:37883949G>A	ENST00000406381.2	+	29	3840	c.3330G>A	c.(3328-3330)gtG>gtA	p.V1110V	ERBB2_ENST00000584601.1_Silent_p.V1110V|ERBB2_ENST00000540147.1_Silent_p.V1110V|ERBB2_ENST00000445658.2_Silent_p.V864V|ERBB2_ENST00000541774.1_Silent_p.V1125V|ERBB2_ENST00000584450.1_Silent_p.*1056*|ERBB2_ENST00000269571.5_Silent_p.V1140V	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1140					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGAATATGTGAACCAGCCAG	0.622000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			16	34					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12419617	12419617	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr12:12419617C>G	ENST00000261349.4	-	1	129	c.53G>C	c.(52-54)aGa>aCa	p.R18T	LRP6_ENST00000543091.1_Missense_Mutation_p.R18T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	18					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTTCCCACCTCTCAGGAGCAC	0.632000													6	20					0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18684538	18684538	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:18684538C>G	ENST00000442744.2	+	3	228	c.170C>G	c.(169-171)tCa>tGa	p.S57*	CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000430157.2_Nonsense_Mutation_p.S57*|UBA52_ENST00000595158.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000595683.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000596273.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000597451.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000598780.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000596304.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000599551.1_Nonsense_Mutation_p.S57*|UBA52_ENST00000599595.1_Nonsense_Mutation_p.S57*	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	57	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						CGCACTCTCTCAGACTACAAC	0.592000													19	52					0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95658335	95658335	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:95658335G>A	ENST00000371408.3	+	2	244	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SLC35G1_ENST00000427197.1_Silent_p.K62K			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	62						integral to membrane											CAGAAGCCAAGAAGAAAGCAC	0.383000													17	19					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210016851	210016851	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:210016851C>G	ENST00000491415.2	+	11	1894	c.1837C>G	c.(1837-1839)Cac>Gac	p.H613D		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	613					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGTCATGTCTCACACGCTCAT	0.413000													9	21					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44815143	44815143	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:44815143A>T	ENST00000507110.1	+	5	1197	c.1159A>T	c.(1159-1161)Aac>Tac	p.N387Y		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	387					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGATCAAAATAACCCTCGTAA	0.363000													11	35					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226180669	226180669	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:226180669C>G	ENST00000272091.7	-	3	291	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TCTTCTCAATCTGAGCACCAA	0.428000													13	36					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83359638	83359638	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:83359638G>A	ENST00000262752.2	-	17	1490	c.1483C>T	c.(1483-1485)Ctt>Ttt	p.L495F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L495F|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	495	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCCGTAACAAGGTAAACATAT	0.289000													6	3					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23906980	23906980	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:23906980G>C	ENST00000382298.3	-	10	11623	c.11035C>G	c.(11035-11037)Ctt>Gtt	p.L3679V	SACS_ENST00000402364.1_Missense_Mutation_p.L2929V|SACS_ENST00000382292.3_Missense_Mutation_p.L3679V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3679					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTTATAAGAGGAAGTGTT	0.408000													13	61					0	0	1	0	0
FOXP3	50943	broad.mit.edu	37	X	49113896	49113896	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chrX:49113896C>A	ENST00000376207.4	-	4	629	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C	FOXP3_ENST00000518685.1_Missense_Mutation_p.G113C|FOXP3_ENST00000376199.2_Missense_Mutation_p.G113C|FOXP3_ENST00000455775.2_Missense_Mutation_p.G148C|FOXP3_ENST00000376197.1_Missense_Mutation_p.G98C|FOXP3_ENST00000557224.1_Missense_Mutation_p.G113C	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	148					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GGTGGGAGGCCAGGCCGGGCC	0.627000													38	6					5.73435e-26	6.21221e-26	1	1	0
AP1M2	10053	broad.mit.edu	37	19	10692456	10692456	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:10692456G>A	ENST00000590923.1	-	4	449	c.366C>T	c.(364-366)ttC>ttT	p.F122F	AP1M2_ENST00000250244.6_Silent_p.F122F			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	122					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGGTCTGCGGGAAGCCAAAGT	0.572000													13	31					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150390091	150390091	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:150390091G>C	ENST00000401000.4	+	2	290	c.225G>C	c.(223-225)ttG>ttC	p.L75F	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.L75F|RPRD2_ENST00000539519.1_Missense_Mutation_p.L75F|RPRD2_ENST00000369067.3_Missense_Mutation_p.L75F			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	75	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCACCGTTTGAATCTCTTTT	0.363000													27	80					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453330	195453330	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:195453330G>A	ENST00000320736.6	+	3	1469	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	MUC20_ENST00000445522.2_Missense_Mutation_p.R584Q|MUC20_ENST00000447234.2_Missense_Mutation_p.R619Q|MUC20_ENST00000436408.1_Missense_Mutation_p.R619Q			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	619					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AACAGCAGCCGAGGGACGAAC	0.617000													28	154					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701494	139701494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr9:139701494G>C	ENST00000338005.6	+	13	1497	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	488										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GATCAGCTTTGAGAACCGGGA	0.642000													17	57					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196865173	196865173	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:196865173G>T	ENST00000346964.2	-	10	1091	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	DLG1_ENST00000357674.4_Missense_Mutation_p.S268Y|DLG1_ENST00000419354.1_Missense_Mutation_p.S301Y|DLG1_ENST00000452595.1_Missense_Mutation_p.S185Y|DLG1_ENST00000314062.3_Missense_Mutation_p.S250Y|DLG1_ENST00000422288.1_Missense_Mutation_p.S250Y|DLG1_ENST00000450955.1_Missense_Mutation_p.S268Y|DLG1_ENST00000392382.2_Missense_Mutation_p.S268Y|DLG1_ENST00000448528.2_Missense_Mutation_p.S301Y|DLG1_ENST00000443183.1_Missense_Mutation_p.S185Y	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	301	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GCGTACAATAGACCCTGCTTC	0.358000													14	22					3.52763e-06	3.62046e-06	1	1	0
LEMD1	93273	broad.mit.edu	37	1	205350864	205350864	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr1:205350864C>G	ENST00000391936.2	-	4	460	c.326G>C	c.(325-327)tGa>tCa	p.*109S	LEMD1_ENST00000367149.3_Nonstop_Mutation_p.*68S|LEMD1_ENST00000367153.4_Missense_Mutation_p.L156F|LEMD1_ENST00000367154.1_Nonstop_Mutation_p.*109S|LEMD1_ENST00000476884.1_5'UTR|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367151.2_Missense_Mutation_p.L115F|LEMD1_ENST00000367152.1_Missense_Mutation_p.L115F	NM_001001552.4	NP_001001552.3	Q68G75	LEMD1_HUMAN	LEM domain containing 1	0						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CAGCAAGCTTCAAGCCCACTG	0.453000													64	177					0	0	1	0	0
NDUFA13	51079	broad.mit.edu	37	19	19638891	19638891	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:19638891G>A	ENST00000512771.3	+	5	401	c.391G>A	c.(391-393)Gag>Aag	p.E131K	NDUFA13_ENST00000252576.5_Missense_Mutation_p.E214K|YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000555938.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.4_Missense_Mutation_p.E131K|NDUFA13_ENST00000503283.1_Intron					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCGCACCACAGAGGAGGCTCT	0.647000													10	28					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936441	38936441	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr3:38936441G>A	ENST00000450244.1	-	15	2616	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	SCN11A_ENST00000302328.3_Silent_p.F806F|SCN11A_ENST00000456224.3_Silent_p.F806F|SCN11A_ENST00000444237.2_Silent_p.F806F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	806					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTAAGGCAATGAAGAGGTTGA	0.438000													7	30					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2728535	2728535	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr18:2728535G>C	ENST00000320876.6	+	23	3192	c.2854G>C	c.(2854-2856)Gaa>Caa	p.E952Q	SMCHD1_ENST00000609587.1_3'UTR|RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E952Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	952					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATTTCAGGTGGAAGTTTTAGA	0.343000													8	24					0	0	1	0	0
CRCP	27297	broad.mit.edu	37	7	65617333	65617333	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:65617333G>T	ENST00000395326.3	+	6	794	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	CRCP_ENST00000415001.2_Missense_Mutation_p.D113Y|CRCP_ENST00000492264.1_3'UTR|RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000338592.5_Missense_Mutation_p.D113Y|CRCP_ENST00000398684.2_Missense_Mutation_p.D69Y|CRCP_ENST00000431089.2_Missense_Mutation_p.D139Y	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	146					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding			cervix(1)|kidney(1)|lung(4)	6						GGACGAAGAGGACCCAGCATA	0.502000													15	48					1.49906e-05	1.53221e-05	1	1	0
TOM1	10043	broad.mit.edu	37	22	35717979	35717979	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr22:35717979G>A	ENST00000411850.1	+	3	290	c.165G>A	c.(163-165)aaG>aaA	p.K55K	TOM1_ENST00000436462.2_Intron|TOM1_ENST00000447733.1_Silent_p.K22K|TOM1_ENST00000449058.2_Silent_p.K55K|TOM1_ENST00000382034.5_5'UTR|TOM1_ENST00000425375.1_Silent_p.K55K	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	55	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GAGCAGTAAAGAAGAGAATCG	0.522000													24	82					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69263046	69263046	+	Translation_Start_Site	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr14:69263046G>C	ENST00000408913.2	-	0	144							Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTCAAGGCAGATGACAGTGT	0.597000													29	79					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43488984	43488984	+	Silent	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:43488984G>A	ENST00000372389.3	+	9	1075	c.987G>A	c.(985-987)ctG>ctA	p.L329L	POLR1C_ENST00000372344.2_Silent_p.L279L|POLR1C_ENST00000304004.3_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	329					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCAAAGTACTGATGGGGAAGT	0.532000													32	78					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51826064	51826064	+	Silent	SNP	C	C	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr13:51826064C>T	ENST00000322475.8	+	3	696	c.561C>T	c.(559-561)ctC>ctT	p.L187L	FAM124A_ENST00000280057.6_Silent_p.L223L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	187										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CTGACAGCCTCAGGTTCTACC	0.567000													12	24					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1036075	1036075	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:1036075C>A	ENST00000562958.2	+	5	433	c.400C>A	c.(400-402)Cta>Ata	p.L134I	CNN2_ENST00000263097.4_Intron|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000606983.1_Intron|CNN2_ENST00000565096.2_Intron			Q99439	CNN2_HUMAN	calponin 2	130					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTAGATCTAGGGTCCCT	0.672000													9	12					0.00448238	0.00453323	1	1	0
SRPK2	6733	broad.mit.edu	37	7	105029102	105029102	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr7:105029102G>A	ENST00000393651.3	-	2	151	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S		NM_182692.1	NP_872634.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	11					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACTTTTTCGGATGTTTCTCT	0.697000													21	40					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837484	82837484	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr5:82837484G>C	ENST00000265077.3	+	8	9227	c.8662G>C	c.(8662-8664)Gag>Cag	p.E2888Q	VCAN_ENST00000343200.5_Missense_Mutation_p.E1901Q|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2888	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCACATAACTGAGCCTCCCTC	0.388000													19	34					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548725	47548725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:47548725delC	ENST00000273859.3	+	10	1750	c.1481delC	c.(1480-1482)gcafs	p.A494fs	ATP10D_ENST00000504445.1_Frame_Shift_Del_p.A479fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	494					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGCAATATGGCAAAACCGAGA	0.478													34	41	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187628572	187628573	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr4:187628572_187628573delCA	ENST00000441802.2	-	2	2618_2619	c.2409_2410delTG	c.(2407-2412)gctgcgfs	p.AA803fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	803	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGACGCCACGCAGCCTTCTGGG	0.446										HNSCC(5;0.00058)			20	95	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30557594	30557594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr6:30557594delC	ENST00000326195.8	+	22	2188	c.2076delC	c.(2074-2076)ttcfs	p.F693fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Del_p.F655fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	693	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAATTGGCTTCTTCAACCAGC	0.547													33	80	---	---	---	---					
RP11-202I11.2	0	broad.mit.edu	37	9	88370966	88370966	+	RNA	DEL	T	T	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr9:88370966delT	ENST00000447148.1	-	0	419																											AAACAAGtaatttttttttta	0.274													2	4	---	---	---	---					
HPX	3263	broad.mit.edu	37	11	6459641	6459641	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:6459641delT	ENST00000265983.3	-	5	535	c.435delA	c.(433-435)gcafs	p.A146fs	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	146					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATTCCACAGCTGCATCCAGTG	0.512													56	135	---	---	---	---					
ZP1	22917	broad.mit.edu	37	11	60637886	60637887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr11:60637886_60637887insT	ENST00000278853.5	+	4	764_765	c.764_765insT	c.(763-768)tgtcagfs	p.Q256fs		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	256	P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAAGAAGCCTGTCAGCAGGCTG	0.574													30	42	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577065	7577065	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr17:7577065delC	ENST00000420246.2	-	8	1005	c.873delG	c.(871-873)aagfs	p.K292fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K292fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	292	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (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.K291fs*48(8)|p.0?(8)|p.K291N(3)|p.?(2)|p.R290fs*53(2)|p.K291K(2)|p.T284_G293del10(1)|p.E294fs*51(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290_P295>X(1)|p.E285fs*13(1)|p.V272_K292del21(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)		GCTCCCCTTTCTTGCGGAGAT	0.577		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)			25	64	---	---	---	---					
ELAVL1	1994	broad.mit.edu	37	19	8038731	8038732	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	b714bfd2-c3c9-47b6-afde-6d60dbe9acf9	g.chr19:8038731_8038732insT	ENST00000407627.2	-	4	436_437	c.307_308insA	c.(307-309)atcfs	p.I103fs	ELAVL1_ENST00000351593.5_Frame_Shift_Ins_p.I130fs|ELAVL1_ENST00000593807.1_Frame_Shift_Ins_p.I103fs|ELAVL1_ENST00000596459.1_Frame_Shift_Ins_p.I103fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	103					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGCGTCTTTGATCACCTCTGAG	0.550													27	60	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													4	6	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47548725	47548725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:47548725delC	ENST00000273859.3	+	10	1750	c.1481delC	c.(1480-1482)gcafs	p.A494fs	ATP10D_ENST00000504445.1_Frame_Shift_Del_p.A479fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	494					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGCAATATGGCAAAACCGAGA	0.478													34	41	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187628572	187628573	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr4:187628572_187628573delCA	ENST00000441802.2	-	2	2618_2619	c.2409_2410delTG	c.(2407-2412)gctgcgfs	p.AA803fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	803	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGACGCCACGCAGCCTTCTGGG	0.446										HNSCC(5;0.00058)			20	95	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30557594	30557594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr6:30557594delC	ENST00000326195.8	+	22	2188	c.2076delC	c.(2074-2076)ttcfs	p.F693fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Del_p.F655fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	693	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAATTGGCTTCTTCAACCAGC	0.547													33	80	---	---	---	---					
BEND3P1	644459	broad.mit.edu	37	10	52419764	52419764	+	RNA	DEL	C	C	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr10:52419764delC	ENST00000449695.1	+	0	2498																											CACGTGCTGGCCCCGAGTGTA	0.572													2	4	---	---	---	---					
HPX	3263	broad.mit.edu	37	11	6459641	6459641	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:6459641delT	ENST00000265983.3	-	5	535	c.435delA	c.(433-435)gcafs	p.A146fs	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	146					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATTCCACAGCTGCATCCAGTG	0.512													56	135	---	---	---	---					
ZP1	22917	broad.mit.edu	37	11	60637886	60637887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr11:60637886_60637887insT	ENST00000278853.5	+	4	764_765	c.764_765insT	c.(763-768)tgtcagfs	p.Q256fs		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	256	P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAAGAAGCCTGTCAGCAGGCTG	0.574													30	42	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29337651	29337652	+	RNA	INS	-	-	CAGAG	rs140530121	by1000genomes	TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:29337651_29337652insCAGAG	ENST00000398878.3	+	0	724																											CCCCGTTCACACCTGTTTCCTC	0.599													4	8	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													3	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577065	7577065	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr17:7577065delC	ENST00000420246.2	-	8	1005	c.873delG	c.(871-873)aagfs	p.K292fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K292fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	292	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (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.K291fs*48(8)|p.0?(8)|p.K291N(3)|p.?(2)|p.R290fs*53(2)|p.K291K(2)|p.T284_G293del10(1)|p.E294fs*51(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290_P295>X(1)|p.E285fs*13(1)|p.V272_K292del21(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)		GCTCCCCTTTCTTGCGGAGAT	0.577		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)			25	64	---	---	---	---					
ELAVL1	1994	broad.mit.edu	37	19	8038731	8038732	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr19:8038731_8038732insT	ENST00000407627.2	-	4	436_437	c.307_308insA	c.(307-309)atcfs	p.I103fs	ELAVL1_ENST00000351593.5_Frame_Shift_Ins_p.I130fs|ELAVL1_ENST00000593807.1_Frame_Shift_Ins_p.I103fs|ELAVL1_ENST00000596459.1_Frame_Shift_Ins_p.I103fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	103					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGCGTCTTTGATCACCTCTGAG	0.550													27	60	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A54R-01A-11D-A26M-08	TCGA-K4-A54R-11A-11D-A26M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28288720-3c64-470b-a0fa-2484ce645f03	8c42855c-0945-4b04-85e8-c60b38c5a1ae	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													8	439	---	---	---	---