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
CHST4	10164	broad.mit.edu	37	16	71571103	71571103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:71571103G>C	ENST00000338482.5	+	3	866	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.V175L|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	175					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGCCACGTGGTGCTCAAGGA	0.617000													3	68					0	0	0.000602214	0	0
ZNF318	24149	broad.mit.edu	37	6	43305058	43305058	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:43305058A>G	ENST00000361428.2	-	10	6755	c.6678T>C	c.(6676-6678)gaT>gaC	p.D2226D	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2226					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGTCATCATCTACTTGCA	0.493000													16	37					0	0	0.00400662	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998716	120998716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:120998716A>G	ENST00000273666.6	+	19	2294	c.2023A>G	c.(2023-2025)Agc>Ggc	p.S675G	STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	675					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTACTGTTAAGCATGGGGAC	0.398000													27	46					0	0	0.000878237	0	0
CIITA	4261	broad.mit.edu	37	16	11016081	11016081	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:11016081G>A	ENST00000324288.8	+	17	3340	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	CIITA_ENST00000381835.5_Silent_p.P485P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1069					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGTGCTTCCGGACATGGTGT	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								36	138					0	0	0.00111076	0	0
CFHR4	10877	broad.mit.edu	37	1	196876014	196876014	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:196876014G>A	ENST00000367416.2	+	4	597	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GCCTGTTTTTGAGAATTCCAG	0.373000													8	23					0	0	0.000442599	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26236921	26236921	+	RNA	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr8:26236921C>T	ENST00000519902.1	-	0	3027																											TTCTTTTTCTCTTTTCAAAAG	0.368000													4	8					0	0	0.00024832	0	0
RGAG4	340526	broad.mit.edu	37	X	71350448	71350448	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:71350448T>C	ENST00000545866.1	-	1	1310	c.943A>G	c.(943-945)Aag>Gag	p.K315E	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K315E			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	315										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGATAGGCTTGGGAACGCGC	0.468000													3	87					0	0	6.4e-05	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935540	151935540	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:151935540G>A	ENST00000393902.3	-	3	1194	c.627C>T	c.(625-627)atC>atT	p.I209I	MAGEA3_ENST00000370278.3_Silent_p.I209I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	209	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCTTGCGATTATGGCCA	0.562000													13	169					0	0	0.00316338	0	0
LTK	4058	broad.mit.edu	37	15	41797503	41797503	+	Splice_Site	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:41797503C>T	ENST00000263800.6	-	15	1924	c.1827_splice	c.e15-1	p.G610_splice	LTK_ENST00000453182.2_Splice_Site_p.G480_splice|LTK_ENST00000561619.1_Splice_Site_p.G308_splice|LTK_ENST00000355166.5_Splice_Site_p.G549_splice	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	610	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGGCTGGCCCTGGGTCAGG	0.597000										TSP Lung(18;0.14)			5	44					0	0	0.000602214	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912208	102912208	+	RNA	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:102912208C>T	ENST00000312132.4	-	0	2371																											CGTTTTACTGCATTAATTACA	0.333000													5	62					0	0	0.000602214	0	0
LILRB1	10859	broad.mit.edu	37	19	55144664	55144664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:55144664C>T	ENST00000396331.1	+	8	1513	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	386	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCATGGGTCCTGTGACCTC	0.567000										HNSCC(37;0.09)			32	105					0	0	0.00178596	0	0
KIF19	124602	broad.mit.edu	37	17	72341019	72341019	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:72341019C>T	ENST00000389916.4	+	7	840	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	234	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGCCGGGTCAAGAACATCT	0.697000													10	26					0	0	0.000673444	0	0
KIF17	57576	broad.mit.edu	37	1	21013938	21013938	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:21013938G>A	ENST00000247986.2	-	8	2191	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	627					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACGGTGGAGGAGAGTCTGG	0.637000													34	72					0	0	0.00428921	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158957	18158957	+	Missense_Mutation	SNP	G	G	A	rs145864519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:18158957G>A	ENST00000396275.2	+	3	569	c.208G>A	c.(208-210)Gcg>Acg	p.A70T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAACCTGGTCGCGGCCGACTT	0.567000													44	76					0	0	0.0025221	0	0
TRIM51	84767	broad.mit.edu	37	11	55653151	55653151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:55653151C>T	ENST00000449290.2	+	2	339	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	83						intracellular	zinc ion binding										AGCCAGCCTCCGGCAATTCCT	0.483000													7	14					0	0	0.00198382	0	0
DOT1L	84444	broad.mit.edu	37	19	2214510	2214510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:2214510C>T	ENST00000398665.3	+	19	1874	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	613						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)		GACTGGGCCACGCTGTCGCTG	0.647000													14	25					0	0	0.00316338	0	0
TECPR2	9895	broad.mit.edu	37	14	102874944	102874944	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:102874944G>C	ENST00000359520.7	+	4	694	c.468G>C	c.(466-468)ctG>ctC	p.L156L	TECPR2_ENST00000558678.1_Silent_p.L156L|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	156							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATTCTTCTCTGGATCTAGACC	0.338000													19	48					0	0	0.00121646	0	0
PTGR2	145482	broad.mit.edu	37	14	74327274	74327274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:74327274C>T	ENST00000555661.1	+	3	215	c.70C>T	c.(70-72)Cga>Tga	p.R24*	RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*|PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000554885.1_5'UTR			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	24					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						AGAGAATTTCCGAATGGAAGA	0.284000													22	38					0	0	0.00278032	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963629	88963629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:88963629C>G	ENST00000333190.4	+	4	1942	c.1333C>G	c.(1333-1335)Cac>Gac	p.H445D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	445						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTTTTCTCCACGTTCAAAG	0.398000										HNSCC(36;0.09)			3	59					0	0	0.00024832	0	0
FSIP2	401024	broad.mit.edu	37	2	186670771	186670771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:186670771G>A	ENST00000343098.5	+	17	17005	c.17005G>A	c.(17005-17007)Gat>Aat	p.D5669N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5580N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGGAAAGATGATGAGATATA	0.274000													38	80					0	0	0.00148497	0	0
ZNF124	7678	broad.mit.edu	37	1	247320151	247320151	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:247320151C>G	ENST00000340684.6	-	4	725	c.587G>C	c.(586-588)gGt>gCt	p.G196A	ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.G258A	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGGTTCTTCACCAGCATGAGC	0.438000													32	68					0	0	0.00178596	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:155887399T>G	ENST00000368320.3	-	11	1356	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P			Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.							p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562000													4	13					0	0	0.00024832	0	0
SOAT2	8435	broad.mit.edu	37	12	53509227	53509227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53509227C>T	ENST00000301466.3	+	6	557	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	166					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CTGCCATTGGCGCTGGTGACC	0.612000													14	29					0	0	0.00400662	0	0
ZNF525	170958	broad.mit.edu	37	19	53884457	53884457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:53884457C>T	ENST00000467003.1	+	4	718	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						ACAGGAAGTACGCATGAGAGA	0.348000													23	55					0	0	0.00278032	0	0
PRMT6	55170	broad.mit.edu	37	1	107600207	107600207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:107600207C>G	ENST00000361318.5	+	1	941	c.693C>G	c.(691-693)atC>atG	p.I231M	PRMT6_ENST00000370078.1_Missense_Mutation_p.I290M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	290					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCTTTGCCATCTGGTTCCAGG	0.662000													15	36					0	0	0.00316338	0	0
WDR60	55112	broad.mit.edu	37	7	158695196	158695196	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:158695196A>T	ENST00000407559.3	+	10	1425	c.1267A>T	c.(1267-1269)Att>Ttt	p.I423F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	423										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCAAAGAGCTATTAATGCAGA	0.368000													19	67					0	0	0.000958276	0	0
NCOA1	8648	broad.mit.edu	37	2	24929972	24929972	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:24929972A>G	ENST00000405141.1	+	14	2344	c.1633A>G	c.(1633-1635)Aat>Gat	p.N545D	NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N545D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	545	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGGTATGAATGAAGGACC	0.423000			T	PAX3	alveolar rhadomyosarcoma								9	38					0	0	0.00448238	0	0
DDC	1644	broad.mit.edu	37	7	50605594	50605594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:50605594C>G	ENST00000444124.2	-	4	599	c.399G>C	c.(397-399)ttG>ttC	p.L133F	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.L133F|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	133	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CTTTCTCATTCAAAAATGCCT	0.572000													22	64					0	0	0.00152264	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256564	140256564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:140256564G>A	ENST00000398631.2	+	1	1507	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T	PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCACGCACTGTCGAG	0.677000													8	87					0	0	0.000442599	0	0
CDYL2	124359	broad.mit.edu	37	16	80718469	80718469	+	Silent	SNP	G	G	A	rs149647231	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:80718469G>A	ENST00000299564.8	-	2	737	c.582C>T	c.(580-582)gaC>gaT	p.D194D	CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000563890.1_Silent_p.D194D|CDYL2_ENST00000562812.1_Silent_p.D194D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	194						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGTGATTCACGTCACATTCAC	0.527000													15	59					0	0	0.000566183	0	0
HDAC4	9759	broad.mit.edu	37	2	239988450	239988450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:239988450C>A	ENST00000345617.3	-	24	3747	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	986	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACACATGCTTCCGAGGCGTCG	0.642000													32	45					6.00712e-18	1.74207e-17	0.0024448	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	53					0	0	0.00024832	0	0
ZNF708	7562	broad.mit.edu	37	19	21476934	21476934	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:21476934T>G	ENST00000356929.3	-	4	1031	c.834A>C	c.(832-834)aaA>aaC	p.K278N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTTGTAGGGTTTCTCTCCAG	0.373000													23	54					0	0	0.00395357	0	0
FLG	2312	broad.mit.edu	37	1	152279921	152279921	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:152279921A>G	ENST00000368799.1	-	3	7476	c.7441T>C	c.(7441-7443)Ttg>Ctg	p.L2481L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTATCTACCAATTGCTCGTAG	0.567000									Ichthyosis				5	534					0	0	0.000602214	0	0
MPZL3	196264	broad.mit.edu	37	11	118107898	118107898	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:118107898T>C	ENST00000278949.4	-	3	373	c.318A>G	c.(316-318)gtA>gtG	p.V106V	MPZL3_ENST00000527472.1_Silent_p.V94V|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	106	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCTTTGTATACATTTCCAA	0.428000													61	71					0	0	0.00361006	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					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	p.C432C(6)		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)					GAACATCCTGCGCCCAGCGGG	0.582000													6	162					0	0	0.00307968	0	0
CBR4	84869	broad.mit.edu	37	4	169927998	169927998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169927998T>C	ENST00000306193.3	-	3	476	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AGTATGAAGCTGAGATACCAT	0.368000													6	151					0	0	0.00307968	0	0
NAA15	80155	broad.mit.edu	37	4	140265372	140265372	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:140265372T>C	ENST00000296543.5	+	6	893	c.570T>C	c.(568-570)agT>agC	p.S190S	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.S190S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	190					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAATATAGTGAACTACTCT	0.333000													3	43					0	0	6.4e-05	0	0
DPPA2	151871	broad.mit.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:109028057C>T	ENST00000478945.1	-	4	548	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP.					nucleus	nucleic acid binding	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453000													42	182					0	0	0.00195071	0	0
OR52E2	119678	broad.mit.edu	37	11	5080067	5080067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5080067C>T	ENST00000321522.2	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	264			R -> C (in dbSNP:rs2500052).		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)		TCGGCCAAAGCGATGAGTCAT	0.473000													6	75					0	0	0.00116845	0	0
MUC17	140453	broad.mit.edu	37	7	100677784	100677784	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:100677784T>C	ENST00000306151.4	+	3	3151	c.3087T>C	c.(3085-3087)ggT>ggC	p.G1029G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1029	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGAAGGTACCAGCATGC	0.502000													178	464					0	0	0.00361006	0	0
OR52N1	79473	broad.mit.edu	37	11	5809698	5809698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5809698G>C	ENST00000317078.1	-	1	348	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGAGCATGAGCACCCCAGAC	0.498000													22	77					0	0	0.00332997	0	0
ANO8	57719	broad.mit.edu	37	19	17436103	17436103	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:17436103G>A	ENST00000159087.4	-	17	2912	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	918						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						GCTCCCGCCGGGCATGGTGCT	0.697000													15	32					0	0	0.000566183	0	0
COX7A2	1347	broad.mit.edu	37	6	75947582	75947582	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:75947582T>C	ENST00000472311.2	-	3	281	c.231A>G	c.(229-231)tgA>tgG	p.*77W	COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000230459.4_3'UTR			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						CGGTTATTTATCAGATTACTG	0.418000													6	15					0	0	0.00116845	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634710	156634710	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:156634710A>T	ENST00000296518.7	+	7	1756	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	516	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCGACCAGCAGTGTGGAGAG	0.522000													6	37					0	0	0.00198382	0	0
RFX6	222546	broad.mit.edu	37	6	117237221	117237221	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:117237221C>A	ENST00000332958.2	+	8	847	c.831C>A	c.(829-831)gaC>gaA	p.D277E	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	277					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTATCCTGGACAATGCAATTA	0.343000													13	52					5.50884e-06	1.4861e-05	0.00136819	1	0
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647000													4	75					0	0	0.000602214	0	0
T	6862	broad.mit.edu	37	6	166571825	166571825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:166571825G>T	ENST00000296946.2	-	9	1754	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	T_ENST00000366871.3_Missense_Mutation_p.P371H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	429					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGCGACACAGGTGTCCATGA	0.612000									Chordoma, Familial Clustering of				14	158					1.05317e-09	2.93203e-09	0.00244969	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074702	76074702	+	RNA	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:76074702G>C	ENST00000395215.3	+	0	774																											CCGGTGGCAGGAGAGGATGTG	0.488000													4	120					0	0	0.000602214	0	0
BTLA	151888	broad.mit.edu	37	3	112198458	112198458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:112198458C>A	ENST00000334529.5	-	2	449	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83*	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	83	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTATCTTCAAGTTTTACA	0.408000													21	96					1.50039e-11	4.24501e-11	0.00188189	1	0
SMAD4	4089	broad.mit.edu	37	18	48603080	48603080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr18:48603080C>T	ENST00000342988.3	+	11	1919	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	461	MH2.|Poly-Ala.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCAGCTGCCCAGGCAGCAGC	0.468000													12	23					0	0	0.00136819	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810824	169810824	+	Silent	SNP	C	C	A	rs143181866		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr5:169810824C>A	ENST00000274629.4	-	3	607	c.165G>T	c.(163-165)ctG>ctT	p.L55L	KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	55					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTCTCAATCAGGTGGCACT	0.567000													8	16					5.18039e-06	1.40842e-05	0.00307968	1	0
JADE1	79960	broad.mit.edu	37	4	129776938	129776938	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:129776938C>T	ENST00000226319.6	+	7	1130	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000512960.1_Silent_p.L284L|PHF17_ENST00000413543.2_Silent_p.L284L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		284					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGCTGTGCTCTGTGGATCCC	0.512000													8	32					0	0	0.00307968	0	0
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:131233667C>T	ENST00000303890.5	+	8	1014	c.429C>T	c.(427-429)caC>caT	p.H143H	ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000372814.3_Silent_p.H211H|ODF2_ENST00000351030.3_Silent_p.H162H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000372796.4_Silent_p.H167H|ODF2_ENST00000434106.2_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000535026.1_Intron	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577000													32	41					0	0	0.00209593	0	0
ZRSR2	8233	broad.mit.edu	37	X	15809058	15809058	+	Splice_Site	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chrX:15809058C>A	ENST00000307771.7	+	2	67	c.41_splice	c.e2-1	p.H15_splice	ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Splice_Site_p.H15_splice	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	15					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCTTCCAGCCACAAAAAGTA	0.512000			"""F, S, Mis"""		"""MDS, CLL"""								12	18					3.07112e-06	8.41535e-06	0.000978159	1	0
HSD3B1	3283	broad.mit.edu	37	1	120050217	120050217	+	Missense_Mutation	SNP	G	G	A	rs141328314		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:120050217G>A	ENST00000235547.6	+	2	263	c.124G>A	c.(124-126)Gga>Aga	p.G42R	HSD3B1_ENST00000369413.3_Missense_Mutation_p.G40R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	40					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	p.G40I(1)|p.G40R(1)		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)	CAAGGCCTTCGGACCAGAATT	0.507000													23	71					0	0	0.00395357	0	0
HTR1F	3355	broad.mit.edu	37	3	88040372	88040372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:88040372C>T	ENST00000319595.4	+	1	527	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	158					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCTATGCCTCCTCTATTCTGG	0.408000													23	23					0	0	0.00188189	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													3	49					0	0	6.4e-05	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389																											TCTGGATAAATATGGAAGCGT	0.343000													3	57					0	0	6.4e-05	0	0
IGHM	3507	broad.mit.edu	37	14	106320515	106320515	+	RNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:106320515G>A	ENST00000390559.2	-	0	1294																											TTTACCGGTGGACTTGTCCAC	0.642000													6	94					0	0	0.00198382	0	0
BCAS3	54828	broad.mit.edu	37	17	59115269	59115269	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:59115269A>G	ENST00000589222.1	+	18	1850	c.1782A>G	c.(1780-1782)gtA>gtG	p.V594V	BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000588462.1_Silent_p.V609V|BCAS3_ENST00000408905.3_Silent_p.V594V|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Silent_p.V609V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000588874.1_Silent_p.V365V			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	609						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AACAAGTTGTAGTTGAGTCCC	0.428000													4	267					0	0	0.00024832	0	0
OR51B2	79345	broad.mit.edu	37	11	5345445	5345445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:5345445G>A	ENST00000328813.2	-	1	137	c.83C>T	c.(82-84)cCc>cTc	p.P28L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P28L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAAGAAGGGGATGGAGAT	0.502000											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	37					0	0	0.00136819	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660924	47660924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:47660924T>C	ENST00000397708.1	-	27	5688	c.5434A>G	c.(5434-5436)Ata>Gta	p.I1812V	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1812					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAGGCTTTATTGCCAAACTG	0.388000													46	86					0	0	0.00361006	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347632	38347632	+	Missense_Mutation	SNP	C	C	T	rs142344011	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:38347632C>T	ENST00000273173.4	+	1	206	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	39						integral to plasma membrane	organic cation transmembrane transporter activity	p.R39C(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATGCTGTTACGCAGATTGAG	0.537000													10	80					0	0	0.000673444	0	0
CPNE4	131034	broad.mit.edu	37	3	131254048	131254048	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:131254048T>C	ENST00000512055.1	-	20	3791	c.1665A>G	c.(1663-1665)ctA>ctG	p.L555L	CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000511604.1_Silent_p.L555L|CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000429747.1_Silent_p.L555L			Q96A23	CPNE4_HUMAN	copine IV	555										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						TTCATGGTGCTAGTGTTCTGG	0.368000													16	47					0	0	0.000566183	0	0
MYH2	4620	broad.mit.edu	37	17	10440764	10440764	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:10440764G>C	ENST00000245503.5	-	16	2067	c.1683C>G	c.(1681-1683)ggC>ggG	p.G561G	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.G561G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	561	Myosin head-like.				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						TGGCAGACTTGCCCAGGTGCT	0.517000													7	127					0	0	0.00448238	0	0
DACT1	51339	broad.mit.edu	37	14	59112758	59112758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr14:59112758G>A	ENST00000395153.3	+	4	1453	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000395151.3_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K|DACT1_ENST00000335867.4_Missense_Mutation_p.E473K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	473					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGGACAGGGGAGTCCCCTAA	0.612000													26	68					0	0	0.00395357	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	36					0	0	0.000602214	0	0
VEZT	55591	broad.mit.edu	37	12	95645720	95645720	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:95645720C>A	ENST00000436874.1	+	2	146	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	VEZT_ENST00000356859.4_Intron|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363000													19	58					1.01871e-10	2.85897e-10	0.00121646	1	0
IL26	55801	broad.mit.edu	37	12	68595690	68595690	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:68595690T>G	ENST00000229134.4	-	5	515	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	151					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTGATGGCTTTGTAGATTCCT	0.274000													9	37					0	0	0.000442599	0	0
SERBP1	26135	broad.mit.edu	37	1	67889975	67889975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:67889975T>C	ENST00000370995.2	-	5	811	c.726A>G	c.(724-726)atA>atG	p.I242M	SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron|SERBP1_ENST00000370994.4_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	242					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						AATTATAAGATATTTGTTTCT	0.363000													21	46					0	0	0.00188189	0	0
SMAD1	4086	broad.mit.edu	37	4	146435852	146435852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:146435852G>A	ENST00000515385.1	+	2	629	c.87G>A	c.(85-87)tgG>tgA	p.W29*	SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000515527.1_3'UTR			Q15797	SMAD1_HUMAN	SMAD family member 1	29	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAAATGGGCAGAGAAAG	0.443000													4	49					0	0	0.000602214	0	0
ARNT	405	broad.mit.edu	37	1	150795676	150795676	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:150795676T>C	ENST00000358595.5	-	14	1588	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	ARNT_ENST00000515192.1_Missense_Mutation_p.N449S|ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	463	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCACATTGGTGTTGGT	0.408000			T	ETV6	AML								4	52					0	0	0.000602214	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2																						CACTGAGCAACAACTGCCATG	0.488000													4	57					0	0	0.000602214	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460181	53460181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:53460181C>T	ENST00000301463.4	-	10	1197	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	371	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcttccccttcctGGTGCAGG	0.572000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	54					0	0	0.000442599	0	0
ZNF728	388523	broad.mit.edu	37	19	23159583	23159583	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:23159583A>T	ENST00000594710.1	-	4	701	c.556T>A	c.(556-558)Tca>Aca	p.S186T		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GATAGGTGTGAAAGCATGCAA	0.318000													10	31					0	0	0.000442599	0	0
LGR6	59352	broad.mit.edu	37	1	202249913	202249913	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:202249913T>G	ENST00000367278.3	+	6	738	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	217						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCAGGCATTTGCATAACAA	0.562000													30	64					0	0	0.00178596	0	0
XCR1	2829	broad.mit.edu	37	3	46062445	46062445	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:46062445A>G	ENST00000309285.3	-	2	1351	c.995T>C	c.(994-996)tTc>tCc	p.F332S	XCR1_ENST00000542109.1_Missense_Mutation_p.F332S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	332					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTCAGTAGAAGGAGGCGCC	0.642000													12	5					0	0	0.00185496	0	0
C1orf168	199920	broad.mit.edu	37	1	57257788	57257788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:57257788C>T	ENST00000343433.6	-	2	778	c.698G>A	c.(697-699)aGc>aAc	p.S233N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	233										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCTTGCCGGGCTCCTCTCAGG	0.532000													38	80					0	0	0.000953801	0	0
DMRT3	58524	broad.mit.edu	37	9	990054	990054	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:990054A>G	ENST00000190165.2	+	2	506	c.468A>G	c.(466-468)gaA>gaG	p.E156E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	156					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGACTGAAGAACGACTTGGAG	0.478000													10	79					0	0	0.000978159	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388253	8388253	+	RNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:8388253G>A	ENST00000304751.9	+	0	243				FAM86FP_ENST00000427893.2_RNA																							AGAGGGTGGCGTCCCATGTGA	0.622000													9	28					0	0	0.000442599	0	0
DONSON	29980	broad.mit.edu	37	21	34958441	34958441	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr21:34958441C>T	ENST00000453626.1	-	3	453	c.449G>A	c.(448-450)aGt>aAt	p.S150N	DONSON_ENST00000303071.5_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	150					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TAACTCAGTACTTTTTGAGGA	0.398000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	39					0	0	0.00448238	0	0
AMY2B	280	broad.mit.edu	37	1	104115755	104115755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:104115755C>T	ENST00000361355.4	+	5	1002	c.386C>T	c.(385-387)aCc>aTc	p.T129I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	129					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAAGCAGTACCTGTGGAAGT	0.403000													117	411					0	0	0.00361006	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:43777690G>A	ENST00000389420.3	-	30	4542	c.4543C>T	c.(4543-4545)Cag>Tag	p.Q1515*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507000													22	64					0	0	0.00152264	0	0
BRCA1	672	broad.mit.edu	37	17	41228515	41228515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:41228515C>T	ENST00000309486.4	-	12	4613	c.3586G>A	c.(3586-3588)Gga>Aga	p.G1196R	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1492R|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1492					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCCACTCCTGGTTCTTTA	0.358000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			17	49					0	0	0.000566183	0	0
ACAD10	80724	broad.mit.edu	37	12	112165809	112165809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:112165809C>G	ENST00000455480.2	+	10	1375	c.1198C>G	c.(1198-1200)Ctc>Gtc	p.L400V	ACAD10_ENST00000313698.4_Missense_Mutation_p.L369V|ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	369							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGCCCAGGTCTCATCTACAA	0.522000													45	141					0	0	0.00222228	0	0
ZNF224	7767	broad.mit.edu	37	19	44610697	44610697	+	Silent	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:44610697T>A	ENST00000336976.6	+	6	638	c.384T>A	c.(382-384)ggT>ggA	p.G128G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	128					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CCAAAGAAGGTGATTTCCCCT	0.433000													10	63					0	0	0.000978159	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Missense_Mutation	SNP	A	A	G	rs111708284	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:71507261A>G	ENST00000528685.1	+	3	358	c.358A>G	c.(358-360)Aca>Gca	p.T120A	FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627000													3	97					0	0	6.4e-05	0	0
HMGB2	3148	broad.mit.edu	37	4	174254247	174254247	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:174254247T>C	ENST00000296503.5	-	3	1142	c.269A>G	c.(268-270)aAg>aGg	p.K90R	HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R|HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R			P26583	HMGB2_HUMAN	high mobility group box 2	90					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.K90R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398000													3	166					0	0	6.4e-05	0	0
NCR2	9436	broad.mit.edu	37	6	41309847	41309847	+	Missense_Mutation	SNP	G	G	A	rs149275592	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:41309847G>A	ENST00000373083.4	+	4	826	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NCR2_ENST00000373086.3_Missense_Mutation_p.V214I|NCR2_ENST00000373089.5_Missense_Mutation_p.V202I	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	202					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.V202I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGACTCCTCGTAGCCAAGAG	0.622000													41	93					0	0	0.00148497	0	0
CBR4	84869	broad.mit.edu	37	4	169927999	169927999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169927999G>T	ENST00000306193.3	-	3	475	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		GTATGAAGCTGAGATACCATA	0.368000													7	148					0.000274275	0.000734213	0.00448238	1	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	57					0	0	0.000602214	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	323	DUF6 2.					integral to membrane		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547000													3	111					0	0	0.00024832	0	0
HUS1B	135458	broad.mit.edu	37	6	656505	656505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:656505G>A	ENST00000380907.2	-	1	458	c.440C>T	c.(439-441)cCg>cTg	p.P147L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	147										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGCTGGGCGGCAGGCAGTC	0.716000													22	40					0	0	0.00229938	0	0
FBXO8	26269	broad.mit.edu	37	4	175162340	175162340	+	Silent	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:175162340G>T	ENST00000393674.2	-	4	1348	c.486C>A	c.(484-486)atC>atA	p.I162I	FBXO8_ENST00000503293.1_Silent_p.I121I	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	162	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		AATCATCCAGGATACCCTTGG	0.323000													17	37					6.49762e-13	1.85342e-12	0.00074312	1	0
RBPJL	11317	broad.mit.edu	37	20	43945404	43945404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43945404C>A	ENST00000372741.3	+	12	1441	c.1369C>A	c.(1369-1371)Cac>Aac	p.H457N	RBPJL_ENST00000343694.3_Silent_p.I453I|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.I452I			Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	0	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGCTCCCATCACAATCCCCA	0.697000													30	39					2.36697e-06	6.53735e-06	0.00127121	1	0
PEAR1	375033	broad.mit.edu	37	1	156874633	156874633	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:156874633C>T	ENST00000338302.3	+	4	420	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEAR1_ENST00000292357.7_Silent_p.C65C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	65	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATACTTGCCCCCAGCCCA	0.657000													12	54					0	0	0.00136819	0	0
BMP8B	656	broad.mit.edu	37	1	40228830	40228830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:40228830C>A	ENST00000372827.3	-	6	1368	c.993G>T	c.(991-993)gaG>gaT	p.E331D	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	331					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCACTCCCCCTCACAGTAAT	0.632000													6	83					0.00198382	0.00526999	0.00198382	1	0
DCN	1634	broad.mit.edu	37	12	91550936	91550936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:91550936C>G	ENST00000052754.5	-	5	1069	c.568G>C	c.(568-570)Gga>Cga	p.G190R	DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000393155.1_Missense_Mutation_p.G190R|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	190					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTTTCAATTCCTGAGCTCTTC	0.413000													9	96					0	0	0.000673444	0	0
IFNA13	3447	broad.mit.edu	37	9	21367983	21367983	+	Silent	SNP	C	C	T	rs147549496	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:21367983C>T	ENST00000449498.1	-	1	92	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	8					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCAGGGCCATCAGTAAAGCAA	0.547000													78	49					0	0	0.00361006	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771407	90771407	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr15:90771407A>T	ENST00000411539.2	+	14	2306	c.2046A>T	c.(2044-2046)caA>caT	p.Q682H	SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGCAGACCAAACAGATGAGG	0.607000													5	17					0	0	0.00116845	0	0
CBR4	84869	broad.mit.edu	37	4	169928000	169928000	+	Silent	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr4:169928000A>T	ENST00000306193.3	-	3	474	c.306T>A	c.(304-306)tcT>tcA	p.S102S	CBR4_ENST00000504480.1_Silent_p.S102S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	102					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TATGAAGCTGAGATACCATAT	0.368000													8	146					0	0	0.00448238	0	0
DNAH6	1768	broad.mit.edu	37	2	84784958	84784958	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:84784958A>G	ENST00000389394.3	+	11	1839	c.1702A>G	c.(1702-1704)Att>Gtt	p.I568V	DNAH6_ENST00000237449.6_Missense_Mutation_p.I568V|DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	568	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAGCCCTTATATTAACAACAA	0.368000													21	79					0	0	0.00152264	0	0
RIMS4	140730	broad.mit.edu	37	20	43386376	43386376	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:43386376T>A	ENST00000372851.3	-	4	452	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	129	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CACCTCCAACTGACCGTTCCG	0.592000													73	68					0	0	0.00361006	0	0
NOL3	8996	broad.mit.edu	37	16	67208838	67208838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:67208838G>A	ENST00000432069.2	+	5	1182	c.610G>A	c.(610-612)Gag>Aag	p.E204K	NOL3_ENST00000568146.1_Silent_p.T200T|NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	0					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGAAAGGGACGAGTCCGAAGG	0.657000													22	36					0	0	0.00278032	0	0
DCAF7	10238	broad.mit.edu	37	17	61661062	61661062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:61661062G>A	ENST00000310827.4	+	6	944	c.727G>A	c.(727-729)Gat>Aat	p.D243N	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	243					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CATGGCCATGGATGGAATGGA	0.537000													13	38					0	0	0.00136819	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917064	32917064	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:32917064C>T	ENST00000374843.4	-	4	850	c.765G>A	c.(763-765)cgG>cgA	p.R255R	HLA-DMA_ENST00000395305.3_Silent_p.R160R|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Silent_p.R221R|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	255						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						AGCAAGGCTTCCGGAAGTAGA	0.567000													20	44					0	0	0.00121646	0	0
DNAH10	196385	broad.mit.edu	37	12	124416356	124416356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:124416356G>T	ENST00000409039.3	+	74	12761	c.12736G>T	c.(12736-12738)Gtg>Ttg	p.V4246L	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4246					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)		CAACAAGCTTGTGGTCCGGAT	0.542000													33	84					7.72975e-29	2.26046e-28	0.00283554	1	0
PLXND1	23129	broad.mit.edu	37	3	129324754	129324754	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:129324754C>T	ENST00000393239.1	-	1	907	c.729G>A	c.(727-729)ctG>ctA	p.L243L	PLXND1_ENST00000324093.4_Silent_p.L243L			Q9Y4D7	PLXD1_HUMAN	plexin D1	243	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGCGCGTGTCCAGGGAGCGGA	0.647000													12	18					0	0	0.00185496	0	0
CHST6	4166	broad.mit.edu	37	16	75513153	75513153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr16:75513153C>T	ENST00000332272.4	-	3	753	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A192T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	192					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTTGAGCGCGGGGTCGCTG	0.692000													13	49					0	0	0.00185496	0	0
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Silent_p.P189P	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373000													3	40					0	0	0.00024832	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018469	101018469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:101018469C>T	ENST00000537247.1	+	10	2528	c.1574C>T	c.(1573-1575)cCg>cTg	p.P525L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	629					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAAACTGCACCGAAGTCAGCA	0.527000													20	56					0	0	0.00121646	0	0
TRPV6	55503	broad.mit.edu	37	7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:142569486C>T	ENST00000359396.3	-	15	2397	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	718					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527000													26	76					0	0	0.000878237	0	0
CNTRL	11064	broad.mit.edu	37	9	123904513	123904513	+	Silent	SNP	A	A	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr9:123904513A>C	ENST00000373855.1	+	19	3096	c.2836A>C	c.(2836-2838)Aga>Cga	p.R946R	CNTRL_ENST00000373850.1_Silent_p.R394R|CNTRL_ENST00000373847.1_Silent_p.R394R|CNTRL_ENST00000238341.5_Silent_p.R946R			Q7Z7A1	CNTRL_HUMAN	centriolin	946					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						AGAGAAGGAGAGAATTCTGGC	0.438000													8	28					0	0	0.00307968	0	0
RPH3A	22895	broad.mit.edu	37	12	113307745	113307745	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr12:113307745G>A	ENST00000389385.4	+	10	1194	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	233	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCCTCCCGTGCGCAGGGC	0.612000													24	63					0	0	0.00332997	0	0
TTN	7273	broad.mit.edu	37	2	179595727	179595727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr2:179595727C>T	ENST00000589042.1	-	60	17889	c.17665G>A	c.(17665-17667)Gat>Aat	p.D5889N	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D5572N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5572	Ig-like 40.						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)			TCTCCACTATCTTTCTTTTCT	0.378000													87	179					0	0	0.00361006	0	0
CHST4	10164	broad.mit.edu	37	16	71571103	71571103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:71571103G>C	ENST00000338482.5	+	3	866	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.V175L			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	175					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGCCACGTGGTGCTCAAGGA	0.617000													3	68					0	0	0.000602214	0	0
ZNF318	24149	broad.mit.edu	37	6	43305058	43305058	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:43305058A>G	ENST00000361428.2	-	10	6755	c.6678T>C	c.(6676-6678)gaT>gaC	p.D2226D	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2226					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACTGTCATCATCTACTTGCA	0.493000													16	37					0	0	0.00400662	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998716	120998716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:120998716A>G	ENST00000273666.6	+	19	2294	c.2023A>G	c.(2023-2025)Agc>Ggc	p.S675G	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	675					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTACTGTTAAGCATGGGGAC	0.398000													27	46					0	0	0.000878237	0	0
CIITA	4261	broad.mit.edu	37	16	11016081	11016081	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:11016081G>A	ENST00000324288.8	+	17	3340	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	CIITA_ENST00000381835.5_Silent_p.P485P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1069					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGTGCTTCCGGACATGGTGT	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								36	138					0	0	0.00111076	0	0
SMAD4	4089	broad.mit.edu	37	18	48603080	48603080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr18:48603080C>T	ENST00000342988.3	+	11	1919	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	461	MH2.|Poly-Ala.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCAGCTGCCCAGGCAGCAGC	0.468000													12	23					0	0	0.00136819	0	0
CFHR4	10877	broad.mit.edu	37	1	196876014	196876014	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:196876014G>A	ENST00000367416.2	+	4	597	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GCCTGTTTTTGAGAATTCCAG	0.373000													8	23					0	0	0.000442599	0	0
RGAG4	340526	broad.mit.edu	37	X	71350448	71350448	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chrX:71350448T>C	ENST00000545866.1	-	1	1310	c.943A>G	c.(943-945)Aag>Gag	p.K315E	RGAG4_ENST00000479991.1_Missense_Mutation_p.K315E|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	315										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGATAGGCTTGGGAACGCGC	0.468000													3	87					0	0	6.4e-05	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935540	151935540	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chrX:151935540G>A	ENST00000393902.3	-	3	1194	c.627C>T	c.(625-627)atC>atT	p.I209I	MAGEA3_ENST00000370278.3_Silent_p.I209I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	209	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCTTGCGATTATGGCCA	0.562000													13	169					0	0	0.00316338	0	0
CHST6	4166	broad.mit.edu	37	16	75513153	75513153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:75513153C>T	ENST00000332272.4	-	3	753	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	CHST6_ENST00000390664.2_Missense_Mutation_p.A192T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	192					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTTGAGCGCGGGGTCGCTG	0.692000													13	49					0	0	0.00185496	0	0
LTK	4058	broad.mit.edu	37	15	41797503	41797503	+	Splice_Site	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:41797503C>T	ENST00000263800.6	-	15	1924	c.1827_splice	c.e15-1	p.G610_splice	LTK_ENST00000453182.2_Splice_Site_p.G480_splice|LTK_ENST00000561619.1_Splice_Site_p.G308_splice|LTK_ENST00000355166.5_Splice_Site_p.G549_splice	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	610	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGGCTGGCCCTGGGTCAGG	0.597000										TSP Lung(18;0.14)			5	44					0	0	0.000602214	0	0
LILRB1	10859	broad.mit.edu	37	19	55144664	55144664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:55144664C>T	ENST00000396331.1	+	8	1513	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	386	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCATGGGTCCTGTGACCTC	0.567000										HNSCC(37;0.09)			32	105					0	0	0.00178596	0	0
KIF19	124602	broad.mit.edu	37	17	72341019	72341019	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:72341019C>T	ENST00000389916.4	+	7	840	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	234	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGCCGGGTCAAGAACATCT	0.697000													10	26					0	0	0.000673444	0	0
ZNF728	388523	broad.mit.edu	37	19	23159583	23159583	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:23159583A>T	ENST00000594710.1	-	4	701	c.556T>A	c.(556-558)Tca>Aca	p.S186T		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GATAGGTGTGAAAGCATGCAA	0.318000													10	31					0	0	0.000442599	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158957	18158957	+	Missense_Mutation	SNP	G	G	A	rs145864519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:18158957G>A	ENST00000396275.2	+	3	569	c.208G>A	c.(208-210)Gcg>Acg	p.A70T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAACCTGGTCGCGGCCGACTT	0.567000													44	76					0	0	0.0025221	0	0
TRIM51	84767	broad.mit.edu	37	11	55653151	55653151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:55653151C>T	ENST00000449290.2	+	2	339	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	83						intracellular	zinc ion binding										AGCCAGCCTCCGGCAATTCCT	0.483000													7	14					0	0	0.00198382	0	0
DOT1L	84444	broad.mit.edu	37	19	2214510	2214510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:2214510C>T	ENST00000398665.3	+	19	1874	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	613						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)		GACTGGGCCACGCTGTCGCTG	0.647000													14	25					0	0	0.00316338	0	0
ARNT	405	broad.mit.edu	37	1	150795676	150795676	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:150795676T>C	ENST00000358595.5	-	14	1588	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S|ARNT_ENST00000515192.1_Missense_Mutation_p.N449S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	463	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCACATTGGTGTTGGT	0.408000			T	ETV6	AML								4	52					0	0	0.000602214	0	0
ZNF124	7678	broad.mit.edu	37	1	247320151	247320151	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:247320151C>G	ENST00000340684.6	-	4	725	c.587G>C	c.(586-588)gGt>gCt	p.G196A	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.G258A	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGGTTCTTCACCAGCATGAGC	0.438000													32	68					0	0	0.00178596	0	0
TECPR2	9895	broad.mit.edu	37	14	102874944	102874944	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:102874944G>C	ENST00000359520.7	+	4	694	c.468G>C	c.(466-468)ctG>ctC	p.L156L	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Silent_p.L156L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	156							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATTCTTCTCTGGATCTAGACC	0.338000													19	48					0	0	0.00121646	0	0
PTGR2	145482	broad.mit.edu	37	14	74327274	74327274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:74327274C>T	ENST00000555661.1	+	3	215	c.70C>T	c.(70-72)Cga>Tga	p.R24*	PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000554885.1_5'UTR|RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	24					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						AGAGAATTTCCGAATGGAAGA	0.284000													22	38					0	0	0.00278032	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963629	88963629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:88963629C>G	ENST00000333190.4	+	4	1942	c.1333C>G	c.(1333-1335)Cac>Gac	p.H445D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	445						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTTTTCTCCACGTTCAAAG	0.398000										HNSCC(36;0.09)			3	59					0	0	0.00024832	0	0
FSIP2	401024	broad.mit.edu	37	2	186670771	186670771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:186670771G>A	ENST00000343098.5	+	17	17005	c.17005G>A	c.(17005-17007)Gat>Aat	p.D5669N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5580N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGGAAAGATGATGAGATATA	0.274000													38	80					0	0	0.00148497	0	0
MUC17	140453	broad.mit.edu	37	7	100683020	100683020	+	Missense_Mutation	SNP	G	G	C	rs150509322	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:100683020G>C	ENST00000306151.4	+	3	8387	c.8323G>C	c.(8323-8325)Gct>Cct	p.A2775P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2775	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTGCTGTTGACAC	0.488000													4	514					0	0	0.000602214	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	84					0	0	6.4e-05	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:155887399T>G	ENST00000368320.3	-	11	1356	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P			Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.							p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562000													4	13					0	0	0.00024832	0	0
SOAT2	8435	broad.mit.edu	37	12	53509227	53509227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:53509227C>T	ENST00000301466.3	+	6	557	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	166					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CTGCCATTGGCGCTGGTGACC	0.612000													14	29					0	0	0.00400662	0	0
ZNF525	170958	broad.mit.edu	37	19	53884457	53884457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:53884457C>T	ENST00000467003.1	+	4	718	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						ACAGGAAGTACGCATGAGAGA	0.348000													23	55					0	0	0.00278032	0	0
PRMT6	55170	broad.mit.edu	37	1	107600207	107600207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:107600207C>G	ENST00000361318.5	+	1	941	c.693C>G	c.(691-693)atC>atG	p.I231M	PRMT6_ENST00000370078.1_Missense_Mutation_p.I290M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	290					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCTTTGCCATCTGGTTCCAGG	0.662000													15	36					0	0	0.00316338	0	0
WDR60	55112	broad.mit.edu	37	7	158695196	158695196	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:158695196A>T	ENST00000407559.3	+	10	1425	c.1267A>T	c.(1267-1269)Att>Ttt	p.I423F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	423										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCAAAGAGCTATTAATGCAGA	0.368000													19	67					0	0	0.000958276	0	0
NCOA1	8648	broad.mit.edu	37	2	24929972	24929972	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:24929972A>G	ENST00000405141.1	+	14	2344	c.1633A>G	c.(1633-1635)Aat>Gat	p.N545D	NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N545D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	545	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGGTATGAATGAAGGACC	0.423000			T	PAX3	alveolar rhadomyosarcoma								9	38					0	0	0.00448238	0	0
DDC	1644	broad.mit.edu	37	7	50605594	50605594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:50605594C>G	ENST00000444124.2	-	4	599	c.399G>C	c.(397-399)ttG>ttC	p.L133F	DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.L133F|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	133	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CTTTCTCATTCAAAAATGCCT	0.572000													22	64					0	0	0.00152264	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256564	140256564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr5:140256564G>A	ENST00000398631.2	+	1	1507	c.1507G>A	c.(1507-1509)Gca>Aca	p.A503T	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCACGCACTGTCGAG	0.677000													8	87					0	0	0.000442599	0	0
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622000													4	50					0	0	0.00024832	0	0
CDYL2	124359	broad.mit.edu	37	16	80718469	80718469	+	Silent	SNP	G	G	A	rs149647231	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:80718469G>A	ENST00000299564.8	-	2	737	c.582C>T	c.(580-582)gaC>gaT	p.D194D	CDYL2_ENST00000563890.1_Silent_p.D194D|CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000562812.1_Silent_p.D194D	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	194						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGTGATTCACGTCACATTCAC	0.527000													15	59					0	0	0.000566183	0	0
HDAC4	9759	broad.mit.edu	37	2	239988450	239988450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:239988450C>A	ENST00000345617.3	-	24	3747	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	986	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACACATGCTTCCGAGGCGTCG	0.642000													32	45					6.00712e-18	2.59954e-17	0.0024448	1	0
BRCA1	672	broad.mit.edu	37	17	41228515	41228515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:41228515C>T	ENST00000309486.4	-	12	4613	c.3586G>A	c.(3586-3588)Gga>Aga	p.G1196R	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1492R	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1492					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCCACTCCTGGTTCTTTA	0.358000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			17	49					0	0	0.000566183	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	53					0	0	0.00024832	0	0
ZNF708	7562	broad.mit.edu	37	19	21476934	21476934	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:21476934T>G	ENST00000356929.3	-	4	1031	c.834A>C	c.(832-834)aaA>aaC	p.K278N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTTGTAGGGTTTCTCTCCAG	0.373000													23	54					0	0	0.00395357	0	0
FLG	2312	broad.mit.edu	37	1	152279921	152279921	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:152279921A>G	ENST00000368799.1	-	3	7476	c.7441T>C	c.(7441-7443)Ttg>Ctg	p.L2481L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTATCTACCAATTGCTCGTAG	0.567000									Ichthyosis				5	534					0	0	0.000602214	0	0
ACAD10	80724	broad.mit.edu	37	12	112165809	112165809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:112165809C>G	ENST00000455480.2	+	10	1375	c.1198C>G	c.(1198-1200)Ctc>Gtc	p.L400V	ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Missense_Mutation_p.L369V|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	369							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGCCCAGGTCTCATCTACAA	0.522000													45	141					0	0	0.00222228	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050217	120050217	+	Missense_Mutation	SNP	G	G	A	rs141328314		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:120050217G>A	ENST00000235547.6	+	2	263	c.124G>A	c.(124-126)Gga>Aga	p.G42R	HSD3B1_ENST00000369413.3_Missense_Mutation_p.G40R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	40					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	p.G40I(1)|p.G40R(1)		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)	CAAGGCCTTCGGACCAGAATT	0.507000													23	71					0	0	0.00395357	0	0
MPZL3	196264	broad.mit.edu	37	11	118107898	118107898	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:118107898T>C	ENST00000278949.4	-	3	373	c.318A>G	c.(316-318)gtA>gtG	p.V106V	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.V94V			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	106	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCTTTGTATACATTTCCAA	0.428000													61	71					0	0	0.00361006	0	0
CBR4	84869	broad.mit.edu	37	4	169927998	169927998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:169927998T>C	ENST00000306193.3	-	3	476	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AGTATGAAGCTGAGATACCAT	0.368000													6	151					0	0	0.00307968	0	0
NAA15	80155	broad.mit.edu	37	4	140265372	140265372	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:140265372T>C	ENST00000296543.5	+	6	893	c.570T>C	c.(568-570)agT>agC	p.S190S	NAA15_ENST00000398947.1_Silent_p.S190S|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	190					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAATATAGTGAACTACTCT	0.333000													3	43					0	0	6.4e-05	0	0
DPPA2	151871	broad.mit.edu	37	3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:109028057C>T	ENST00000478945.1	-	4	548	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP.					nucleus	nucleic acid binding	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453000													42	182					0	0	0.00195071	0	0
OR52E2	119678	broad.mit.edu	37	11	5080067	5080067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:5080067C>T	ENST00000321522.2	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	264			R -> C (in dbSNP:rs2500052).		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)		TCGGCCAAAGCGATGAGTCAT	0.473000													6	75					0	0	0.00116845	0	0
MUC17	140453	broad.mit.edu	37	7	100677784	100677784	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:100677784T>C	ENST00000306151.4	+	3	3151	c.3087T>C	c.(3085-3087)ggT>ggC	p.G1029G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1029	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGAAGGTACCAGCATGC	0.502000													178	464					0	0	0.00361006	0	0
BIRC5	332	broad.mit.edu	37	17	76219780	76219780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:76219780C>T	ENST00000600484.1	-	5	499	c.500G>A	c.(499-501)aGc>aAc	p.S167N	BIRC5_ENST00000374948.2_3'UTR|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000301633.4_3'UTR																							TTCAACTGTGCTCTTGTTTTG	0.493000													3	5					0	0	6.4e-05	0	0
OR52N1	79473	broad.mit.edu	37	11	5809698	5809698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:5809698G>C	ENST00000317078.1	-	1	348	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGAGCATGAGCACCCCAGAC	0.498000													22	77					0	0	0.00332997	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77310547	77310547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:77310547G>A	ENST00000558012.1	+	2	584	c.95G>A	c.(94-96)gGc>gAc	p.G32D	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.G32D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.G31D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.G32D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	32	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTTCTGGATGGCAGGAAGATG	0.627000													4	6					0	0	0.00024832	0	0
COX7A2	1347	broad.mit.edu	37	6	75947582	75947582	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:75947582T>C	ENST00000472311.2	-	3	281	c.231A>G	c.(229-231)tgA>tgG	p.*77W	COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000230459.4_3'UTR|COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						CGGTTATTTATCAGATTACTG	0.418000													6	15					0	0	0.00116845	0	0
RFX6	222546	broad.mit.edu	37	6	117237221	117237221	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:117237221C>A	ENST00000332958.2	+	8	847	c.831C>A	c.(829-831)gaC>gaA	p.D277E	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	277					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTATCCTGGACAATGCAATTA	0.343000													13	52					5.50884e-06	2.20805e-05	0.00136819	1	0
T	6862	broad.mit.edu	37	6	166571825	166571825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:166571825G>T	ENST00000296946.2	-	9	1754	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	T_ENST00000366871.3_Missense_Mutation_p.P371H	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	429					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGCGACACAGGTGTCCATGA	0.612000									Chordoma, Familial Clustering of				14	158					1.05317e-09	4.36441e-09	0.00244969	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074702	76074702	+	RNA	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:76074702G>C	ENST00000395215.3	+	0	774																											CCGGTGGCAGGAGAGGATGTG	0.488000													4	120					0	0	0.000602214	0	0
BTLA	151888	broad.mit.edu	37	3	112198458	112198458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:112198458C>A	ENST00000334529.5	-	2	449	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83*	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	83	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTATCTTCAAGTTTTACA	0.408000													21	96					1.50039e-11	6.32492e-11	0.00188189	1	0
KCNMB1	3779	broad.mit.edu	37	5	169810824	169810824	+	Silent	SNP	C	C	A	rs143181866		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr5:169810824C>A	ENST00000274629.4	-	3	607	c.165G>T	c.(163-165)ctG>ctT	p.L55L	KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	55					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGGTCTCAATCAGGTGGCACT	0.567000													8	16					5.18039e-06	2.09356e-05	0.00307968	1	0
JADE1	79960	broad.mit.edu	37	4	129776938	129776938	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:129776938C>T	ENST00000226319.6	+	7	1130	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	PHF17_ENST00000413543.2_Silent_p.L284L|PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000512960.1_Silent_p.L284L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		284					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGCTGTGCTCTGTGGATCCC	0.512000													8	32					0	0	0.00307968	0	0
LCNL1	401562	broad.mit.edu	37	9	139879316	139879316	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:139879316C>T	ENST00000408973.2	+	3	942	c.348C>T	c.(346-348)ttC>ttT	p.F116F	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	116							binding										ACCCCCGCTTCGGGTCTGGGA	0.692000													4	1					0	0	0.00024832	0	0
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:131233667C>T	ENST00000303890.5	+	8	1014	c.429C>T	c.(427-429)caC>caT	p.H143H	RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000351030.3_Silent_p.H162H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372796.4_Silent_p.H167H|ODF2_ENST00000372814.3_Silent_p.H211H|ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000434106.2_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577000													32	41					0	0	0.00209593	0	0
LOC653786	653786	broad.mit.edu	37	16	22588015	22588015	+	RNA	SNP	A	A	G	rs460493	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:22588015A>G	ENST00000550753.1	+	0	2490					NR_003676.2																						TGGCCTGAGCACATCGTCCTG	0.557000													4	110					0	0	0.000978159	0	0
ZRSR2	8233	broad.mit.edu	37	X	15809058	15809058	+	Splice_Site	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chrX:15809058C>A	ENST00000307771.7	+	2	67	c.41_splice	c.e2-1	p.H15_splice	ZRSR2_ENST00000380308.3_Splice_Site_p.H15_splice|ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	15					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCTTCCAGCCACAAAAAGTA	0.512000			"""F, S, Mis"""		"""MDS, CLL"""								12	18					3.07112e-06	1.25148e-05	0.000978159	1	0
ANO8	57719	broad.mit.edu	37	19	17436103	17436103	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:17436103G>A	ENST00000159087.4	-	17	2912	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	918						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						GCTCCCGCCGGGCATGGTGCT	0.697000													15	32					0	0	0.000566183	0	0
HTR1F	3355	broad.mit.edu	37	3	88040372	88040372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:88040372C>T	ENST00000319595.4	+	1	527	c.473C>T	c.(472-474)cCt>cTt	p.P158L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	158					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCTATGCCTCCTCTATTCTGG	0.408000													23	23					0	0	0.00188189	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													3	49					0	0	6.4e-05	0	0
IGHM	3507	broad.mit.edu	37	14	106320515	106320515	+	RNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:106320515G>A	ENST00000390559.2	-	0	1294																											TTTACCGGTGGACTTGTCCAC	0.642000													6	94					0	0	0.00198382	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389																											TCTGGATAAATATGGAAGCGT	0.343000													3	57					0	0	6.4e-05	0	0
BCAS3	54828	broad.mit.edu	37	17	59115269	59115269	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:59115269A>G	ENST00000589222.1	+	18	1850	c.1782A>G	c.(1780-1782)gtA>gtG	p.V594V	BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000408905.3_Silent_p.V594V|BCAS3_ENST00000390652.5_Silent_p.V609V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000588462.1_Silent_p.V609V|BCAS3_ENST00000588874.1_Silent_p.V365V|RP11-264B14.1_ENST00000588604.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	609						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AACAAGTTGTAGTTGAGTCCC	0.428000													4	267					0	0	0.00024832	0	0
C1orf168	199920	broad.mit.edu	37	1	57257788	57257788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:57257788C>T	ENST00000343433.6	-	2	778	c.698G>A	c.(697-699)aGc>aAc	p.S233N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	233										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCTTGCCGGGCTCCTCTCAGG	0.532000													38	80					0	0	0.000953801	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347632	38347632	+	Missense_Mutation	SNP	C	C	T	rs142344011	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:38347632C>T	ENST00000273173.4	+	1	206	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	39						integral to plasma membrane	organic cation transmembrane transporter activity	p.R39C(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATGCTGTTACGCAGATTGAG	0.537000													10	80					0	0	0.000673444	0	0
CPNE4	131034	broad.mit.edu	37	3	131254048	131254048	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:131254048T>C	ENST00000512055.1	-	20	3791	c.1665A>G	c.(1663-1665)ctA>ctG	p.L555L	CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000429747.1_Silent_p.L555L|CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000511604.1_Silent_p.L555L			Q96A23	CPNE4_HUMAN	copine IV	555										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						TTCATGGTGCTAGTGTTCTGG	0.368000													16	47					0	0	0.000566183	0	0
MYH2	4620	broad.mit.edu	37	17	10440764	10440764	+	Silent	SNP	G	G	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:10440764G>C	ENST00000245503.5	-	16	2067	c.1683C>G	c.(1681-1683)ggC>ggG	p.G561G	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|MYH2_ENST00000532183.1_Silent_p.G561G|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	561	Myosin head-like.				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						TGGCAGACTTGCCCAGGTGCT	0.517000													7	127					0	0	0.00448238	0	0
DACT1	51339	broad.mit.edu	37	14	59112758	59112758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr14:59112758G>A	ENST00000395153.3	+	4	1453	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	DACT1_ENST00000335867.4_Missense_Mutation_p.E473K|DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000395151.3_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	473					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGGACAGGGGAGTCCCCTAA	0.612000													26	68					0	0	0.00395357	0	0
VEZT	55591	broad.mit.edu	37	12	95645720	95645720	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:95645720C>A	ENST00000436874.1	+	2	146	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	VEZT_ENST00000356859.4_Intron|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	14						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTTCAGAATTCTCCACTTTAC	0.363000													19	58					1.01871e-10	4.2577e-10	0.00121646	1	0
IL26	55801	broad.mit.edu	37	12	68595690	68595690	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:68595690T>G	ENST00000229134.4	-	5	515	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	151					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTGATGGCTTTGTAGATTCCT	0.274000													9	37					0	0	0.000442599	0	0
SERBP1	26135	broad.mit.edu	37	1	67889975	67889975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:67889975T>C	ENST00000370995.2	-	5	811	c.726A>G	c.(724-726)atA>atG	p.I242M	SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	242					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						AATTATAAGATATTTGTTTCT	0.363000													21	46					0	0	0.00188189	0	0
SMAD1	4086	broad.mit.edu	37	4	146435852	146435852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:146435852G>A	ENST00000515385.1	+	2	629	c.87G>A	c.(85-87)tgG>tgA	p.W29*	SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*|SMAD1_ENST00000515527.1_3'UTR			Q15797	SMAD1_HUMAN	SMAD family member 1	29	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAAATGGGCAGAGAAAG	0.443000													4	49					0	0	0.000602214	0	0
OR51B2	79345	broad.mit.edu	37	11	5345445	5345445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr11:5345445G>A	ENST00000328813.2	-	1	137	c.83C>T	c.(82-84)cCc>cTc	p.P28L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P28L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAAGAAGGGGATGGAGAT	0.502000											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	37					0	0	0.00136819	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460181	53460181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:53460181C>T	ENST00000301463.4	-	10	1197	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	371	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcttccccttcctGGTGCAGG	0.572000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	54					0	0	0.000442599	0	0
KIF17	57576	broad.mit.edu	37	1	21013938	21013938	+	Silent	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:21013938G>A	ENST00000247986.2	-	8	2191	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	627					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACGGTGGAGGAGAGTCTGG	0.637000													34	72					0	0	0.00428921	0	0
LGR6	59352	broad.mit.edu	37	1	202249913	202249913	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:202249913T>G	ENST00000367278.3	+	6	738	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	217						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGCAGGCATTTGCATAACAA	0.562000													30	64					0	0	0.00178596	0	0
XCR1	2829	broad.mit.edu	37	3	46062445	46062445	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:46062445A>G	ENST00000309285.3	-	2	1351	c.995T>C	c.(994-996)tTc>tCc	p.F332S	XCR1_ENST00000542109.1_Missense_Mutation_p.F332S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	332					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTCAGTAGAAGGAGGCGCC	0.642000													12	5					0	0	0.00185496	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660924	47660924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr21:47660924T>C	ENST00000397708.1	-	27	5688	c.5434A>G	c.(5434-5436)Ata>Gta	p.I1812V	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1812					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAGGCTTTATTGCCAAACTG	0.388000													46	86					0	0	0.00361006	0	0
DMRT3	58524	broad.mit.edu	37	9	990054	990054	+	Silent	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:990054A>G	ENST00000190165.2	+	2	506	c.468A>G	c.(466-468)gaA>gaG	p.E156E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	156					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGACTGAAGAACGACTTGGAG	0.478000													10	79					0	0	0.000978159	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388253	8388253	+	RNA	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:8388253G>A	ENST00000304751.9	+	0	243				FAM86FP_ENST00000427893.2_RNA																							AGAGGGTGGCGTCCCATGTGA	0.622000													9	28					0	0	0.000442599	0	0
DONSON	29980	broad.mit.edu	37	21	34958441	34958441	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr21:34958441C>T	ENST00000453626.1	-	3	453	c.449G>A	c.(448-450)aGt>aAt	p.S150N	DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000303071.5_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	150					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TAACTCAGTACTTTTTGAGGA	0.398000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	39					0	0	0.00448238	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634710	156634710	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:156634710A>T	ENST00000296518.7	+	7	1756	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	516	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCGACCAGCAGTGTGGAGAG	0.522000													6	37					0	0	0.00198382	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777690	43777690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:43777690G>A	ENST00000389420.3	-	30	4542	c.4543C>T	c.(4543-4545)Cag>Tag	p.Q1515*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1515	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.Q1515*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGGTGGACTGATCACACATT	0.507000													22	64					0	0	0.00152264	0	0
ZNF224	7767	broad.mit.edu	37	19	44610697	44610697	+	Silent	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:44610697T>A	ENST00000336976.6	+	6	638	c.384T>A	c.(382-384)ggT>ggA	p.G128G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	128					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CCAAAGAAGGTGATTTCCCCT	0.433000													10	63					0	0	0.000978159	0	0
FIGN	55137	broad.mit.edu	37	2	164466120	164466120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:164466120G>A	ENST00000333129.3	-	3	2536	c.2222C>T	c.(2221-2223)tCt>tTt	p.S741F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	741						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTCCTTTTGAGATATGCTAGG	0.393000													42	64					0	0	0.00222228	0	0
HMGB2	3148	broad.mit.edu	37	4	174254247	174254247	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:174254247T>C	ENST00000296503.5	-	3	1142	c.269A>G	c.(268-270)aAg>aGg	p.K90R	HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R|HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R			P26583	HMGB2_HUMAN	high mobility group box 2	90					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.K90R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398000													3	166					0	0	6.4e-05	0	0
NCR2	9436	broad.mit.edu	37	6	41309847	41309847	+	Missense_Mutation	SNP	G	G	A	rs149275592	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:41309847G>A	ENST00000373083.4	+	4	826	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NCR2_ENST00000373089.5_Missense_Mutation_p.V202I|NCR2_ENST00000373086.3_Missense_Mutation_p.V214I	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	202					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.V202I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGACTCCTCGTAGCCAAGAG	0.622000													41	93					0	0	0.00148497	0	0
CBR4	84869	broad.mit.edu	37	4	169927999	169927999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:169927999G>T	ENST00000306193.3	-	3	475	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	103					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		GTATGAAGCTGAGATACCATA	0.368000													7	148					0.000274275	0.00108162	0.00448238	1	0
HUS1B	135458	broad.mit.edu	37	6	656505	656505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:656505G>A	ENST00000380907.2	-	1	458	c.440C>T	c.(439-441)cCg>cTg	p.P147L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	147										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGGCTGGGCGGCAGGCAGTC	0.716000													22	40					0	0	0.00229938	0	0
FBXO8	26269	broad.mit.edu	37	4	175162340	175162340	+	Silent	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:175162340G>T	ENST00000393674.2	-	4	1348	c.486C>A	c.(484-486)atC>atA	p.I162I	FBXO8_ENST00000503293.1_Silent_p.I121I	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	162	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		AATCATCCAGGATACCCTTGG	0.323000													17	37					6.49762e-13	2.7629e-12	0.00074312	1	0
RBPJL	11317	broad.mit.edu	37	20	43945404	43945404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:43945404C>A	ENST00000372741.3	+	12	1441	c.1369C>A	c.(1369-1371)Cac>Aac	p.H457N	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.I452I|RBPJL_ENST00000343694.3_Silent_p.I453I			Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	0	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGCTCCCATCACAATCCCCA	0.697000													30	39					2.36697e-06	9.72647e-06	0.00127121	1	0
PEAR1	375033	broad.mit.edu	37	1	156874633	156874633	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:156874633C>T	ENST00000338302.3	+	4	420	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEAR1_ENST00000292357.7_Silent_p.C65C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	65	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATACTTGCCCCCAGCCCA	0.657000													12	54					0	0	0.00136819	0	0
BMP8B	656	broad.mit.edu	37	1	40228830	40228830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:40228830C>A	ENST00000372827.3	-	6	1368	c.993G>T	c.(991-993)gaG>gaT	p.E331D	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	331					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCACTCCCCCTCACAGTAAT	0.632000													6	83					0.00198382	0.0077607	0.00198382	1	0
TTN	7273	broad.mit.edu	37	2	179595727	179595727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:179595727C>T	ENST00000589042.1	-	60	17889	c.17665G>A	c.(17665-17667)Gat>Aat	p.D5889N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5572N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5572	Ig-like 40.						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)			TCTCCACTATCTTTCTTTTCT	0.378000													87	179					0	0	0.00361006	0	0
IFNA13	3447	broad.mit.edu	37	9	21367983	21367983	+	Silent	SNP	C	C	T	rs147549496	byFrequency	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:21367983C>T	ENST00000449498.1	-	1	92	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	8					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCAGGGCCATCAGTAAAGCAA	0.547000													78	49					0	0	0.00361006	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771407	90771407	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:90771407A>T	ENST00000411539.2	+	14	2306	c.2046A>T	c.(2044-2046)caA>caT	p.Q682H	SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H|SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGCAGACCAAACAGATGAGG	0.607000													5	17					0	0	0.00116845	0	0
CBR4	84869	broad.mit.edu	37	4	169928000	169928000	+	Silent	SNP	A	A	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr4:169928000A>T	ENST00000306193.3	-	3	474	c.306T>A	c.(304-306)tcT>tcA	p.S102S	CBR4_ENST00000504480.1_Silent_p.S102S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	102					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TATGAAGCTGAGATACCATAT	0.368000													8	146					0	0	0.00448238	0	0
DNAH6	1768	broad.mit.edu	37	2	84784958	84784958	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr2:84784958A>G	ENST00000389394.3	+	11	1839	c.1702A>G	c.(1702-1704)Att>Gtt	p.I568V	DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V|DNAH6_ENST00000237449.6_Missense_Mutation_p.I568V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	568	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAGCCCTTATATTAACAACAA	0.368000													21	79					0	0	0.00152264	0	0
RIMS4	140730	broad.mit.edu	37	20	43386376	43386376	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:43386376T>A	ENST00000372851.3	-	4	452	c.386A>T	c.(385-387)cAg>cTg	p.Q129L	RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	129	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CACCTCCAACTGACCGTTCCG	0.592000													73	68					0	0	0.00361006	0	0
SLC17A9	63910	broad.mit.edu	37	20	61598792	61598792	+	Silent	SNP	C	C	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:61598792C>A	ENST00000370349.3	+	14	1437	c.1233C>A	c.(1231-1233)acC>acA	p.T411T	SLC17A9_ENST00000370351.4_Silent_p.T417T|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	417					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCTGTGCACCTTCCTGGTGT	0.607000													50	152					4.01344e-20	1.7523e-19	0.00361006	1	0
NOL3	8996	broad.mit.edu	37	16	67208838	67208838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr16:67208838G>A	ENST00000432069.2	+	5	1182	c.610G>A	c.(610-612)Gag>Aag	p.E204K	NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K|NOL3_ENST00000568146.1_Silent_p.T200T	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	0					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGAAAGGGACGAGTCCGAAGG	0.657000													22	36					0	0	0.00278032	0	0
DCAF7	10238	broad.mit.edu	37	17	61661062	61661062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:61661062G>A	ENST00000310827.4	+	6	944	c.727G>A	c.(727-729)Gat>Aat	p.D243N	DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	243					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CATGGCCATGGATGGAATGGA	0.537000													13	38					0	0	0.00136819	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917064	32917064	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:32917064C>T	ENST00000374843.4	-	4	850	c.765G>A	c.(763-765)cgG>cgA	p.R255R	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Silent_p.R160R|HLA-DMA_ENST00000395303.3_Silent_p.R221R	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	255						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						AGCAAGGCTTCCGGAAGTAGA	0.567000													20	44					0	0	0.00121646	0	0
DNAH10	196385	broad.mit.edu	37	12	124416356	124416356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:124416356G>T	ENST00000409039.3	+	74	12761	c.12736G>T	c.(12736-12738)Gtg>Ttg	p.V4246L	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4246					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)		CAACAAGCTTGTGGTCCGGAT	0.542000													33	84					7.72975e-29	3.40527e-28	0.00283554	1	0
PLXND1	23129	broad.mit.edu	37	3	129324754	129324754	+	Silent	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:129324754C>T	ENST00000393239.1	-	1	907	c.729G>A	c.(727-729)ctG>ctA	p.L243L	PLXND1_ENST00000324093.4_Silent_p.L243L			Q9Y4D7	PLXD1_HUMAN	plexin D1	243	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGCGCGTGTCCAGGGAGCGGA	0.647000													12	18					0	0	0.00185496	0	0
TRAF5	7188	broad.mit.edu	37	1	211534067	211534067	+	Silent	SNP	T	T	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr1:211534067T>C	ENST00000336184.2	+	6	627	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000261464.5_Silent_p.P189P|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Intron	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373000													3	40					0	0	0.00024832	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018469	101018469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:101018469C>T	ENST00000537247.1	+	10	2528	c.1574C>T	c.(1573-1575)cCg>cTg	p.P525L	GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	629					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAAACTGCACCGAAGTCAGCA	0.527000													20	56					0	0	0.00121646	0	0
TRPV6	55503	broad.mit.edu	37	7	142569486	142569486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr7:142569486C>T	ENST00000359396.3	-	15	2397	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	718					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCTCTCCCCGTCCTCCAGA	0.527000													26	76					0	0	0.000878237	0	0
CNTRL	11064	broad.mit.edu	37	9	123904513	123904513	+	Silent	SNP	A	A	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr9:123904513A>C	ENST00000373855.1	+	19	3096	c.2836A>C	c.(2836-2838)Aga>Cga	p.R946R	CNTRL_ENST00000238341.5_Silent_p.R946R|CNTRL_ENST00000373847.1_Silent_p.R394R|CNTRL_ENST00000373850.1_Silent_p.R394R			Q7Z7A1	CNTRL_HUMAN	centriolin	946					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						AGAGAAGGAGAGAATTCTGGC	0.438000													8	28					0	0	0.00307968	0	0
RPH3A	22895	broad.mit.edu	37	12	113307745	113307745	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:113307745G>A	ENST00000389385.4	+	10	1194	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	233	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCCTCCCGTGCGCAGGGC	0.612000													24	63					0	0	0.00332997	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42137429	42137429	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr15:42137429G>T	ENST00000382448.4	+	19	1970	c.1961G>T	c.(1960-1962)cGg>cTg	p.R654L	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R423L|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R423L|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R654L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		423	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCAGATCAACGGGAGGCCCTG	0.592000													4	34					0.00024832	0.000987223	0.00024832	1	0
DCN	1634	broad.mit.edu	37	12	91550936	91550936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr12:91550936C>G	ENST00000052754.5	-	5	1069	c.568G>C	c.(568-570)Gga>Cga	p.G190R	DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.G190R|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	190					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTTTCAATTCCTGAGCTCTTC	0.413000													9	96					0	0	0.000673444	0	0
PLD1	5337	broad.mit.edu	37	3	171379875	171379875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr3:171379875delT	ENST00000356327.5	-	19	2271	c.2201delA	c.(2200-2202)acfs	p.N734fs	PLD1_ENST00000351298.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	772	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCCTGCTGTTCTCTATCAC	0.458													16	77	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30551996	30551997	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:30551996_30551997insC	ENST00000326195.8	+	13	1242_1243	c.1130_1131insC	c.(1129-1131)gcafs	p.A377fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.A339fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	377	ABC transporter 1.				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						ACACCAGCAGTCCAGGCTGTTC	0.550													17	52	---	---	---	---					
SYNJ2	8871	broad.mit.edu	37	6	158517350	158517350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr6:158517350delA	ENST00000355585.4	+	27	4520	c.4445delA	c.(4444-4446)gafs	p.E1482fs	SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1482							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGTGACCAAGAAAAGAGGACA	0.507													19	43	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													2	4	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													5	3	---	---	---	---					
WBSCR17	64409	broad.mit.edu	37	7	70597919	70597920	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr7:70597919_70597920delCG	ENST00000333538.5	+	1	765_766	c.131_132delCG	c.(130-132)cfs	p.P44fs		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	44						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGATCCGGCCGCGCGCCGAGG	0.678													16	32	---	---	---	---					
TSPAN14	81619	broad.mit.edu	37	10	82249069	82249069	+	Splice_Site	DEL	G	G	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr10:82249069delG	ENST00000429989.2	+	2	303	c.81_splice	c.e2+1	p.W27_splice	TSPAN14_ENST00000372158.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000341863.6_Splice_Site_p.W27_splice|TSPAN14_ENST00000372164.3_Splice_Site_p.W27_splice|TSPAN14_ENST00000481124.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372156.1_Splice_Site_p.W27_splice	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	27						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			ATCATCTTCTGGGTAAGTGGA	0.428													2	4	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		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						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													4	4	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													3	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576840	7576851	+	Splice_Site	DEL	CAAGACTTAGTA	CAAGACTTAGTA	-	rs1800899	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:7576840_7576851delCAAGACTTAGTA	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(14)|p.0?(8)|p.I332fs*49(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)		TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT	0.472		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)			17	40	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7751859	7751864	+	In_Frame_Del	DEL	CACCAC	CACCAC	-	rs59627144		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr17:7751859_7751864delCACCAC	ENST00000254846.5	+	11	2642_2647	c.2253_2258delCACCAC	c.(2251-2259)gtc>gt	p.VTT751del	KDM6B_ENST00000448097.2_In_Frame_Del_p.VTT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	751	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccaccacc	0.650													7	39	---	---	---	---					
PAF1	54623	broad.mit.edu	37	19	39876966	39876966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:39876966delC	ENST00000221265.3	-	14	1591	c.1261delG	c.(1261-1263)agfs	p.E422fs	PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	422	Glu-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACCTTCCTCCCGTTCACTC	0.602													35	239	---	---	---	---					
NAPA	8775	broad.mit.edu	37	19	47996389	47996390	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr19:47996389_47996390insG	ENST00000263354.3	-	6	761_762	c.462_463insC	c.(460-465)ggaggafs	p.G155fs	NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.G116fs|NAPA-AS1_ENST00000593284.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	155					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		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;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGGACTCCTCGCCTTTGTAGT	0.649													20	45	---	---	---	---					
ZNFX1	57169	broad.mit.edu	37	20	47855521	47855530	+	Frame_Shift_Del	DEL	ATGGAGAAAG	ATGGAGAAAG	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr20:47855521_47855530delATGGAGAAAG	ENST00000371754.4	-	15	4187_4196	c.3734_3743delCTTTCTCCAT	c.(3733-3744)ttfs	p.SFSI1245fs	ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000371764.4_Frame_Shift_Del_p.MEKD606fs|DDX27_ENST00000484427.1_3'UTR			Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	0							metal ion binding	p.M606I(1)|p.E607*(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATTGAGAAAATGGAGAAAGATGTGTATGC	0.486													14	45	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													2	4	---	---	---	---					
PLD1	5337	broad.mit.edu	37	3	171379875	171379875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr3:171379875delT	ENST00000356327.5	-	19	2271	c.2201delA	c.(2200-2202)acfs	p.N734fs	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000351298.4_Frame_Shift_Del_p.N772fs	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	772	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCCTGCTGTTCTCTATCAC	0.458													16	77	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30551996	30551997	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:30551996_30551997insC	ENST00000326195.8	+	13	1242_1243	c.1130_1131insC	c.(1129-1131)gcafs	p.A377fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.A339fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	377	ABC transporter 1.				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						ACACCAGCAGTCCAGGCTGTTC	0.550													17	52	---	---	---	---					
SYNJ2	8871	broad.mit.edu	37	6	158517350	158517350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr6:158517350delA	ENST00000355585.4	+	27	4520	c.4445delA	c.(4444-4446)gafs	p.E1482fs	SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1482							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGTGACCAAGAAAAGAGGACA	0.507													19	43	---	---	---	---					
TSPAN14	81619	broad.mit.edu	37	10	82249069	82249069	+	Splice_Site	DEL	G	G	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr10:82249069delG	ENST00000429989.2	+	2	303	c.81_splice	c.e2+1	p.W27_splice	TSPAN14_ENST00000341863.6_Splice_Site_p.W27_splice|TSPAN14_ENST00000372164.3_Splice_Site_p.W27_splice|TSPAN14_ENST00000372158.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000481124.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372156.1_Splice_Site_p.W27_splice	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	27						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			ATCATCTTCTGGGTAAGTGGA	0.428													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576840	7576851	+	Splice_Site	DEL	CAAGACTTAGTA	CAAGACTTAGTA	-	rs1800899	by1000genomes	TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr17:7576840_7576851delCAAGACTTAGTA	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(14)|p.0?(8)|p.I332fs*49(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)		TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT	0.472		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)			17	40	---	---	---	---					
PAF1	54623	broad.mit.edu	37	19	39876966	39876966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:39876966delC	ENST00000221265.3	-	14	1591	c.1261delG	c.(1261-1263)agfs	p.E422fs	PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	422	Glu-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACCTTCCTCCCGTTCACTC	0.602													35	239	---	---	---	---					
NAPA	8775	broad.mit.edu	37	19	47996389	47996390	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr19:47996389_47996390insG	ENST00000263354.3	-	6	761_762	c.462_463insC	c.(460-465)ggaggafs	p.G155fs	NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.G116fs|NAPA-AS1_ENST00000593284.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	155					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		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;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGGACTCCTCGCCTTTGTAGT	0.649													20	45	---	---	---	---					
ZNFX1	57169	broad.mit.edu	37	20	47855521	47855530	+	Frame_Shift_Del	DEL	ATGGAGAAAG	ATGGAGAAAG	-			TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr20:47855521_47855530delATGGAGAAAG	ENST00000371754.4	-	15	4187_4196	c.3734_3743delCTTTCTCCAT	c.(3733-3744)ttfs	p.SFSI1245fs	DDX27_ENST00000371764.4_Frame_Shift_Del_p.MEKD606fs|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR			Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	0							metal ion binding	p.M606I(1)|p.E607*(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATTGAGAAAATGGAGAAAGATGTGTATGC	0.486													14	45	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-CV-7097-01A-11D-2012-08	TCGA-CV-7097-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23336d44-bb79-4361-b661-ce26eae06692	30516b25-d2b1-44e1-8414-4b37a66167eb	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													2	4	---	---	---	---					
