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
CPED1	79974	broad.mit.edu	37	7	120773893	120773893	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:120773893G>T	ENST00000310396.5	+	13	2061	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	CPED1_ENST00000423795.1_Missense_Mutation_p.D312Y|CPED1_ENST00000450913.2_Missense_Mutation_p.D532Y	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTTCACAGAAGATAAGAACAT	0.299000													15	35					7.81268e-19	9.19617e-19	1	1	0
TEX37	200523	broad.mit.edu	37	2	88828764	88828764	+	Silent	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:88828764C>T	ENST00000303254.3	+	4	457	c.315C>T	c.(313-315)acC>acT	p.T105T		NM_152670.2	NP_689883.1			testis expressed 37																		TCACCAGCACCTGCCATTTCA	0.592000													22	94					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52799961	52799961	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:52799961C>A	ENST00000257974.2	-	1	178	c.101G>T	c.(100-102)aGc>aTc	p.S34I		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	34	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGGCCCCTTGCTCACTGCATA	0.642000													10	19					7.48243e-07	8.12995e-07	1	1	0
ABCF3	55324	broad.mit.edu	37	3	183911221	183911221	+	Missense_Mutation	SNP	G	G	C	rs150420700		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:183911221G>C	ENST00000429586.2	+	20	2137	c.1952G>C	c.(1951-1953)cGt>cCt	p.R651P	ABCF3_ENST00000292808.5_Missense_Mutation_p.R645P|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	651	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTGGGCCGTGCCCTCAAC	0.592000													43	163					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319012	123319012	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:123319012C>A	ENST00000275162.4	+	2	1425	c.90C>A	c.(88-90)gaC>gaA	p.D30E	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	30					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGCACCAGGACATCCAGGAGG	0.547000													27	55					1.42536e-11	1.64352e-11	1	1	0
FANCI	55215	broad.mit.edu	37	15	89857856	89857856	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:89857856G>T	ENST00000310775.7	+	36	3820	c.3734G>T	c.(3733-3735)cGg>cTg	p.R1245L	FANCI_ENST00000300027.8_Missense_Mutation_p.R1185L|FANCI_ENST00000566615.1_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1245					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAGTTCTTCGGGAAACCAAG	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	35					3.41278e-10	3.8954e-10	1	1	0
CCDC85A	114800	broad.mit.edu	37	2	56419679	56419679	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:56419679A>T	ENST00000407595.2	+	2	846	c.344A>T	c.(343-345)gAc>gTc	p.D115V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	115										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGGATGATGACCGGCAGAAA	0.532000													60	28					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134023217	134023217	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:134023217T>G	ENST00000534548.2	-	33	4358	c.4294A>C	c.(4294-4296)Atc>Ctc	p.I1432L	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1432					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGTGTCCCGATGTAACTGACC	0.527000													74	134					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108108	26108108	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:26108108C>T	ENST00000338379.4	-	1	256	c.214G>A	c.(214-216)Gct>Act	p.A72T		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	72	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TAGCCAGCAGCGGCCAATGCC	0.527000													24	72					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647237	57647237	+	Silent	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:57647237G>A	ENST00000269834.1	-	5	853	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGGATTATTGCCAACTAATT	0.368000													30	95					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501842	12501842	+	Missense_Mutation	SNP	A	A	T	rs78572821		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:12501842A>T	ENST00000419318.1	-	4	2023	c.1274T>A	c.(1273-1275)tTt>tAt	p.F425Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.F457Y			Q96GE5	ZN799_HUMAN	zinc finger protein 799	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAATCAATAAAGGCTTTCCC	0.388000													29	47					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064140	6064140	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:6064140G>A	ENST00000409021.3	-	10	1908	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R322C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R302C|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R487C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R487C	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	487	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCAGAAGCGCAGGTCAGCC	0.532000													23	56					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26432113	26432113	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:26432113T>G	ENST00000342320.4	+	10	1290	c.1114T>G	c.(1114-1116)Ttt>Gtt	p.F372V	RBPJ_ENST00000345843.3_Missense_Mutation_p.F371V|RBPJ_ENST00000348160.4_Missense_Mutation_p.F373V|RBPJ_ENST00000361572.6_Missense_Mutation_p.F386V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000342295.1_Missense_Mutation_p.F386V|RBPJ_ENST00000355476.3_Missense_Mutation_p.F372V|RBPJ_ENST00000507561.1_Missense_Mutation_p.F351V			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	386	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACGAGTGTGGTTTGGGGATGT	0.438000													9	81					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433271	73433271	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:73433271C>T	ENST00000263666.4	-	10	2560	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	PDZRN3_ENST00000535920.1_Missense_Mutation_p.E538K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E473K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E473K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E533K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	816							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTGCCCACTTCGGGATCTTCC	0.662000													5	53					0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15793937	15793937	+	Silent	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:15793937C>T	ENST00000359621.4	+	7	721	c.696C>T	c.(694-696)caC>caT	p.H232H	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	232	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGCAGGTGCACGGCATCGTCA	0.592000													24	50					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401688	401688	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:401688A>T	ENST00000380956.4	+	7	1136	c.1010A>T	c.(1009-1011)gAc>gTc	p.D337V		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	337					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ATCTACTGGGACGGGCCCCTG	0.597000			T	IGH@	MM								19	51					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8170160	8170160	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:8170160G>T	ENST00000314666.6	+	23	3044	c.2911G>T	c.(2911-2913)Gct>Tct	p.A971S	PFAS_ENST00000545834.1_Missense_Mutation_p.A547S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	971					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTACCGGGATGCTGGCCTCCA	0.662000													16	26					2.31682e-05	2.44674e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179456400	179456400	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:179456400C>T	ENST00000589042.1	-	303	60370	c.60146G>A	c.(60145-60147)cGt>cAt	p.R20049H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18408H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11176H|TTN_ENST00000359218.5_Missense_Mutation_p.R11109H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10984H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17481H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18408	Fibronectin type-III 45.						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)			AGCTTTTACACGGAATCTATA	0.398000													121	64					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124281837	124281837	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:124281837C>T	ENST00000360013.3	+	34	5204	c.5077C>T	c.(5077-5079)Cgg>Tgg	p.R1693W	KALRN_ENST00000393496.1_Missense_Mutation_p.R66W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1693	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TACCACCGAACGGAGCCCGCC	0.657000													25	85					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47733262	47733262	+	Silent	SNP	G	G	A	rs146134171	byFrequency	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:47733262G>A	ENST00000455779.1	+	32	3431	c.3246G>A	c.(3244-3246)ccG>ccA	p.P1082P	PHKB_ENST00000566044.1_Silent_p.P1082P|PHKB_ENST00000323584.5_Silent_p.P1089P|PHKB_ENST00000299167.8_Silent_p.P1089P			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1089					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATGATGACCCGTGTCTGATTA	0.463000													37	102					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98775218	98775218	+	Silent	SNP	A	A	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:98775218A>G	ENST00000407474.3	+	4	1842	c.1329A>G	c.(1327-1329)aaA>aaG	p.K443K				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TGCCAAAGAAAGTTCTTTCAG	0.398000													12	36					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	26					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58824568	58824568	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:58824568G>A	ENST00000589222.1	+	6	399	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	BCAS3_ENST00000588462.1_Missense_Mutation_p.E111K|BCAS3_ENST00000408905.3_Missense_Mutation_p.E111K|BCAS3_ENST00000407086.3_Missense_Mutation_p.E111K|BCAS3_ENST00000390652.5_Missense_Mutation_p.E111K			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	111						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)			GATCAGTGGTGAAGCACAAGA	0.378000													54	86					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847589	130847589	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:130847589G>A	ENST00000245255.3	+	18	2367	c.2095G>A	c.(2095-2097)Gtg>Atg	p.V699M		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	699	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCGGATCATCGTGTACCGCGA	0.488000													31	66					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118797474	118797474	+	Silent	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chrX:118797474G>A	ENST00000394610.1	-	3	576	c.312C>T	c.(310-312)ggC>ggT	p.G104G	SEPT6_ENST00000489216.1_Silent_p.G104G|SEPT6_ENST00000394616.4_Silent_p.G46G|SEPT6_ENST00000394617.2_Silent_p.G134G|SEPT6_ENST00000343984.5_Silent_p.G104G|SEPT6_ENST00000360156.7_Silent_p.G104G|SEPT6_ENST00000354228.4_Silent_p.G104G|SEPT6_ENST00000354416.3_Silent_p.G104G	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	104					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTCCCCAAAGCCAACTGTGC	0.572000			T	MLL	AML								115	58					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36402442	36402442	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr13:36402442G>T	ENST00000255448.4	-	9	1443	c.1232C>A	c.(1231-1233)tCg>tAg	p.S411*	DCLK1_ENST00000379893.1_Nonsense_Mutation_p.S104*|DCLK1_ENST00000360631.3_Nonsense_Mutation_p.S411*	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	411	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S411L(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTAGCAGTCGATCTGCGAAG	0.328000													6	10					5.9392e-07	6.5797e-07	1	1	0
FN1	2335	broad.mit.edu	37	2	216246973	216246973	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:216246973C>T	ENST00000354785.4	-	32	5495	c.5126G>A	c.(5125-5127)aGc>aAc	p.S1709N	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000446046.1_Missense_Mutation_p.S1618N|FN1_ENST00000443816.1_Missense_Mutation_p.S1618N|FN1_ENST00000432072.2_Missense_Mutation_p.S1709N|FN1_ENST00000421182.1_Missense_Mutation_p.S1618N|FN1_ENST00000359671.1_Missense_Mutation_p.S1618N|FN1_ENST00000357867.4_Missense_Mutation_p.S1618N|FN1_ENST00000357009.2_Missense_Mutation_p.S1618N|FN1_ENST00000356005.4_Missense_Mutation_p.S1618N|FN1_ENST00000346544.3_Missense_Mutation_p.S1618N|FN1_ENST00000345488.5_Missense_Mutation_p.S1618N|FN1_ENST00000336916.4_Missense_Mutation_p.S1618N|FN1_ENST00000323926.6_Missense_Mutation_p.S1709N			P02751	FINC_HUMAN	fibronectin 1	1708	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTCTCTCCGCTTGGATTCTG	0.443000													23	19					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667394	33667394	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:33667394G>A	ENST00000321505.4	+	16	4861	c.4681G>A	c.(4681-4683)Gcc>Acc	p.A1561T	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1567T					KIAA1549-like																		GCTGGAGGAGGCCTTCAGCCT	0.657000													17	44					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209339	98209339	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:98209339C>T	ENST00000430669.2	-	23	4586	c.4001G>A	c.(4000-4002)gGc>gAc	p.G1334D	PTCH1_ENST00000421141.1_Missense_Mutation_p.G1249D|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1400D|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1249D|PTCH1_ENST00000429896.2_Missense_Mutation_p.G1249D|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1399D|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1334D			Q13635	PTC1_HUMAN	patched 1	1400					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCAGGGTAGCCTGGGCAGAG	0.657000													33	134					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69364472	69364472	+	Silent	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:69364472G>A	ENST00000342771.4	+	2	831	c.510G>A	c.(508-510)aaG>aaA	p.K170K	AUTS2_ENST00000403018.2_Silent_p.K170K|AUTS2_ENST00000406775.2_Silent_p.K170K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	170										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAATGCCGAAGGCACTCAGAC	0.517000													23	47					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	27964468	27964468	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr10:27964468C>T	ENST00000375790.5	-	6	1286	c.854G>A	c.(853-855)gGa>gAa	p.G285E	MKX_ENST00000419761.1_Missense_Mutation_p.G285E			Q8IYA7	MKX_HUMAN	mohawk homeobox	285					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTATTGGATCCGTTTTCCAG	0.378000													6	11					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102743713	102743713	+	RNA	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:102743713G>T	ENST00000532855.1	-	0	328							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTGTCCAGTTGCCCGGTCACT	0.468000													9	25					1.12685e-05	1.21271e-05	1	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243504378	243504378	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:243504378C>T	ENST00000366541.3	+	11	1377	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.A377V|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.A275V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	420	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAACTGGAGGCCCAGGTGGAA	0.373000													18	48					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228909	118228909	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:118228909C>T	ENST00000360388.4	+	1	221	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	7					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGAGCAGCCGCAGCAGCAG	0.741000													11	27					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	94993361	94993361	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:94993361A>G	ENST00000265627.5	-	6	519	c.509T>C	c.(508-510)gTg>gCg	p.V170A	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.V170A	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCAAGAACCACAATGTCATT	0.398000													39	86					0	0	1	0	0
RCN3	57333	broad.mit.edu	37	19	50040344	50040344	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:50040344G>T	ENST00000270645.3	+	4	947	c.500G>T	c.(499-501)cGg>cTg	p.R167L		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	167	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding|protein binding	p.R167Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		ATGCTGGCTCGGGACGAGCGG	0.572000													75	159					3.31162e-33	3.98099e-33	1	1	0
FKBP9	11328	broad.mit.edu	37	7	33016094	33016094	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:33016094A>G	ENST00000242209.4	+	4	855	c.686A>G	c.(685-687)tAt>tGt	p.Y229C	FKBP9_ENST00000538336.1_Missense_Mutation_p.Y282C|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.Y91C|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	229	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TTTCTGGCCTATGGAGAGGAT	0.478000													3	70					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982208	61982208	+	Silent	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr20:61982208G>A	ENST00000370263.4	-	5	776	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	185					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCTTGGCCTTGTCGTAGGTCC	0.592000													26	155					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8406128	8406128	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr18:8406128G>A	ENST00000332175.8	+	31	5364	c.4327G>A	c.(4327-4329)Gag>Aag	p.E1443K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1443	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTCTGCTACGAGGTGGCCCT	0.453000													6	41					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913339	77913339	+	Silent	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chrX:77913339C>T	ENST00000321110.1	-	2	874	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	193	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CATTTGAAGGCTCCAGAGGCT	0.537000													13	7					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153019122	153019122	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:153019122T>C	ENST00000367245.5	+	1	93	c.85T>C	c.(85-87)Ttc>Ctc	p.F29L	MYCT1_ENST00000529453.1_Missense_Mutation_p.F29L	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	29						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACTGCTTTTTTTCGACATACT	0.333000													5	14					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902795	236902795	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:236902795G>A	ENST00000366578.4	+	10	1236	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	ACTN2_ENST00000542672.1_Missense_Mutation_p.R357H|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	357					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCAGCAACCGTCCTGCCTTC	0.607000													9	24					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814461	43814461	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:43814461C>T	ENST00000382031.1	+	5	1535	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	MAP1A_ENST00000399453.1_Missense_Mutation_p.R264C|MAP1A_ENST00000300231.5_Missense_Mutation_p.R264C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	264	9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAGATTGTGCGTGTGCTTTT	0.542000													16	52					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160920896	160920896	+	Silent	SNP	A	A	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:160920896A>G	ENST00000368029.3	-	4	435	c.378T>C	c.(376-378)gaT>gaC	p.D126D		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	126	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCAGTTGCCATCCCCCTCTG	0.587000													14	71					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178274651	178274651	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:178274651A>T	ENST00000264596.3	+	8	1347	c.1229A>T	c.(1228-1230)cAg>cTg	p.Q410L	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	410					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAGCAAAACCAGATACTAGAT	0.368000								Base excision repair (BER), DNA glycosylases					19	44					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224583	206224583	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:206224583C>T	ENST00000367126.4	+	1	608	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	48					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGTGCTGGCGACCGGGGGC	0.677000													45	99					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4687340	4687340	+	Silent	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:4687340C>T	ENST00000302640.8	+	10	1133	c.783C>T	c.(781-783)caC>caT	p.H261H	ITPR1_ENST00000443694.2_Silent_p.H261H|ITPR1_ENST00000354582.6_Silent_p.H261H|ITPR1_ENST00000357086.4_Silent_p.H261H|ITPR1_ENST00000456211.2_Silent_p.H261H|ITPR1_ENST00000423119.2_Silent_p.H261H|ITPR1_ENST00000544951.1_Silent_p.H261H	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	261	MIR 3.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAAGCAGCACGTCTTCCTGA	0.547000													16	10					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34182507	34182507	+	Silent	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:34182507G>A	ENST00000435224.2	-	11	2764	c.2340C>T	c.(2338-2340)aaC>aaT	p.N780N	ABTB2_ENST00000298992.2_Silent_p.N594N	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	594							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCAGCTCCTCGTTGTACTCCT	0.597000													16	26					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43188224	43188224	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr6:43188224C>T	ENST00000252050.4	+	32	6394	c.6310C>T	c.(6310-6312)Cgg>Tgg	p.R2104W	CUL9_ENST00000354495.3_Missense_Mutation_p.R1994W|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.R2076W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2104					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGACAACTCGGATCGAGCA	0.582000													56	117					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364100	25364100	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr8:25364100C>T	ENST00000330560.3	+	15	2395	c.1918C>T	c.(1918-1920)Cgt>Tgt	p.R640C	CDCA2_ENST00000380665.3_Missense_Mutation_p.R625C|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	640					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGATCTTTTGCGTCATGACCC	0.363000													36	43					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78390833	78390833	+	Silent	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:78390833G>A	ENST00000328828.5	+	4	540	c.540G>A	c.(538-540)aaG>aaA	p.K180K	SH2D7_ENST00000409568.2_Silent_p.K44K	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	180										endometrium(2)|kidney(2)|lung(3)	7						TCCCCGACAAGGCCGCCAGCC	0.602000													13	30					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485779	118485779	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr5:118485779T>A	ENST00000311085.8	+	18	4337	c.4257T>A	c.(4255-4257)tgT>tgA	p.C1419*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.C1419*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGATAGCTGTTACTCATCTT	0.353000													4	34					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818509	192818509	+	Silent	SNP	T	T	C			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:192818509T>C	ENST00000392314.1	-	9	1315	c.924A>G	c.(922-924)ctA>ctG	p.L308L	TMEFF2_ENST00000272771.5_Silent_p.L308L|AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	308	Required for shedding.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GAACAACGTATAGAACACTGT	0.443000													43	16					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246755211	246755211	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:246755211G>T	ENST00000366513.4	+	2	616	c.347G>T	c.(346-348)aGc>aTc	p.S116I	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S116I	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	116					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGTCCAAGAAGCAAAAAAGGG	0.388000													8	18					0.000157383	0.000163159	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30734936	30734936	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:30734936C>G	ENST00000262518.4	+	25	4576	c.4191C>G	c.(4189-4191)atC>atG	p.I1397M	SRCAP_ENST00000395059.2_Missense_Mutation_p.I1335M|SRCAP_ENST00000344771.4_Missense_Mutation_p.I1239M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1397	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTTGACCATCTCTTCTCCTC	0.567000													37	101					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42950018	42950018	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:42950018C>A	ENST00000350427.4	-	2	757	c.482G>T	c.(481-483)aGc>aTc	p.S161I	C7orf25_ENST00000447342.1_Missense_Mutation_p.S161I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.S219I|C7orf25_ENST00000438029.1_Missense_Mutation_p.S161I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	161										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GTGAGGGTTGCTATACTGCAC	0.498000													20	53					3.62473e-10	4.09595e-10	1	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919833	12919833	+	Silent	SNP	A	A	G	rs150145103	byFrequency	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:12919833A>G	ENST00000240189.2	+	3	660	c.573A>G	c.(571-573)ccA>ccG	p.P191P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	191								p.P191P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTAACGCCAATTAAATATC	0.398000													5	293					0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68330382	68330382	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:68330382G>A	ENST00000566454.1	+	10	1504	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.R412H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	412					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTCTACCTCCGCTGGAAGGAG	0.577000													32	85					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277798	113277798	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr8:113277798C>A	ENST00000297405.5	-	60	9774	c.9530G>T	c.(9529-9531)gGt>gTt	p.G3177V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3008V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3107V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3137V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3177	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTGGTATACCTGGGTCTCC	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			78	45					3.1376e-36	3.81236e-36	1	1	0
CCDC180	100499483	broad.mit.edu	37	9	100056345	100056345	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:100056345G>A	ENST00000357054.1	+	13	1138	c.203G>A	c.(202-204)cGc>cAc	p.R68H	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_5'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.R68H|CCDC180_ENST00000375202.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.R108H					coiled-coil domain containing 180																		CTGATTGCCCGCATCGACAGG	0.572000													4	116					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80762743	80762743	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr15:80762743G>T	ENST00000533983.1	+	5	685	c.346G>T	c.(346-348)Gcg>Tcg	p.A116S	ARNT2_ENST00000527771.1_Missense_Mutation_p.A116S|ARNT2_ENST00000303329.4_Missense_Mutation_p.A127S|ARNT2_ENST00000531595.3_3'UTR			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	127	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACCGATGGCGCGTACAAGCC	0.572000													6	33					0.0293803	0.0296427	1	1	0
SBNO1	55206	broad.mit.edu	37	12	123782568	123782568	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:123782568C>T	ENST00000420886.2	-	30	3995	c.3996G>A	c.(3994-3996)atG>atA	p.M1332I	SBNO1_ENST00000602398.1_Missense_Mutation_p.M1332I|SBNO1_ENST00000602750.1_Missense_Mutation_p.M1331I|SBNO1_ENST00000267176.4_Missense_Mutation_p.M1331I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1332							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCACGATCTGCATCTTCACGT	0.433000													36	80					0	0	1	0	0
NKPD1	284353	broad.mit.edu	37	19	45656415	45656415	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:45656415A>T	ENST00000317951.4	-	4	1279	c.1280T>A	c.(1279-1281)aTg>aAg	p.M427K	NKPD1_ENST00000429338.1_Missense_Mutation_p.M205K|NKPD1_ENST00000589776.1_Missense_Mutation_p.M205K|NKPD1_ENST00000438936.2_Missense_Mutation_p.M205K	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CACCTCGCACATGAAACCCAG	0.617000													3	13					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125467077	125467077	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:125467077G>T	ENST00000308736.2	-	3	467	c.369C>A	c.(367-369)aaC>aaA	p.N123K		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	123							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GATACATGCGGTTCCCAGTGC	0.557000													5	404					3.59834e-05	3.76493e-05	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	74					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	28					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89039301	89039301	+	Silent	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:89039301G>A	ENST00000237612.3	-	7	1346	c.801C>T	c.(799-801)caC>caT	p.H267H	ABCG2_ENST00000515655.1_Silent_p.H267H	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	267	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GAGCAGGCCCGTGGAACATAA	0.433000													19	28					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051172	85051172	+	Silent	SNP	A	A	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:85051172A>G	ENST00000335459.5	-	5	1297	c.1092T>C	c.(1090-1092)agT>agC	p.S364S	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.S413S	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GTTCGGCCTCACTGGGCGTGT	0.647000													3	26					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410834	105410834	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr14:105410834C>A	ENST00000333244.5	-	7	11073	c.10954G>T	c.(10954-10956)Gcc>Tcc	p.A3652S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3652						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCCTGGGGCCGATACCCTG	0.582000													101	177					2.68873e-43	3.37585e-43	1	1	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													6	155					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26432108	26432108	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:26432108T>G	ENST00000342320.4	+	10	1285	c.1109T>G	c.(1108-1110)gTg>gGg	p.V370G	RBPJ_ENST00000345843.3_Missense_Mutation_p.V369G|RBPJ_ENST00000348160.4_Missense_Mutation_p.V371G|RBPJ_ENST00000361572.6_Missense_Mutation_p.V384G|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000342295.1_Missense_Mutation_p.V384G|RBPJ_ENST00000355476.3_Missense_Mutation_p.V370G|RBPJ_ENST00000507561.1_Missense_Mutation_p.V349G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	384	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATTTACGAGTGTGGTTTGGG	0.423000													8	79					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558139	159558139	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:159558139G>A	ENST00000255040.2	+	2	410	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	105	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CAAAGTTATCGAAAAGTTCCC	0.423000													22	48					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494425	20494425	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:20494425G>A	ENST00000573854.1	+	13	1669	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	ACSM2A_ENST00000536134.1_Missense_Mutation_p.D291N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D440N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D519N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D519N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D519N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	519					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTGTCCCATGACCCAGAACA	0.522000													39	97					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152468860	152468860	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:152468860C>A	ENST00000397345.3	-	78	11847	c.11645G>T	c.(11644-11646)tGg>tTg	p.W3882L	NEB_ENST00000409198.1_Missense_Mutation_p.W3639L|NEB_ENST00000603639.1_Missense_Mutation_p.W3882L|NEB_ENST00000604864.1_Missense_Mutation_p.W3882L|NEB_ENST00000172853.10_Missense_Mutation_p.W3639L|NEB_ENST00000427231.2_Missense_Mutation_p.W3882L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3882					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGGAACCCATCCTATGCC	0.458000													34	8					1.03484e-13	1.20553e-13	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64695279	64695279	+	Silent	SNP	A	A	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:64695279A>T	ENST00000164133.2	+	4	1024	c.402A>T	c.(400-402)tcA>tcT	p.S134S		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	134					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTCAGATCTCAGTGAATATCT	0.483000													28	49					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5274277	5274277	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:5274277G>A	ENST00000372412.4	-	3	403	c.170C>T	c.(169-171)aCg>aTg	p.T57M	PTPRS_ENST00000588012.1_Missense_Mutation_p.T57M|PTPRS_ENST00000262963.6_Missense_Mutation_p.T57M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T57M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T57M|PTPRS_ENST00000587303.1_Missense_Mutation_p.T57M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T57M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T57M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000590509.1_Missense_Mutation_p.T57M			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	57	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGGTCACCCGTGGCCTGACA	0.597000													18	27					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													5	330					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849915	73849915	+	Silent	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr8:73849915G>T	ENST00000523207.1	+	3	2913	c.2325G>T	c.(2323-2325)gcG>gcT	p.A775A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	775					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGTTTCAGCGCCTTGTCAGG	0.532000													51	58					1.89013e-27	2.24826e-27	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17283727	17283727	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:17283727C>T	ENST00000595618.1	+	13	2247	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	MYO9B_ENST00000397274.2_Missense_Mutation_p.R699W|MYO9B_ENST00000594824.1_Missense_Mutation_p.R699W	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	699	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGCAGTGCTTCGGGAGGCCGG	0.687000													28	45					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26432110	26432110	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:26432110T>G	ENST00000342320.4	+	10	1287	c.1111T>G	c.(1111-1113)Tgg>Ggg	p.W371G	RBPJ_ENST00000345843.3_Missense_Mutation_p.W370G|RBPJ_ENST00000348160.4_Missense_Mutation_p.W372G|RBPJ_ENST00000361572.6_Missense_Mutation_p.W385G|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000342295.1_Missense_Mutation_p.W385G|RBPJ_ENST00000355476.3_Missense_Mutation_p.W371G|RBPJ_ENST00000507561.1_Missense_Mutation_p.W350G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	385	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTTACGAGTGTGGTTTGGGGA	0.433000													7	80					0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001202	13001202	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:13001202C>T	ENST00000376189.1	-	3	580	c.481G>A	c.(481-483)Gat>Aat	p.D161N	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.D161N	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	161										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTATTCATCCAGAGTCCTG	0.483000													25	230					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19981297	19981297	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr20:19981297G>A	ENST00000255006.6	+	12	2701	c.2552G>A	c.(2551-2553)tGc>tAc	p.C851Y	RIN2_ENST00000440354.2_Missense_Mutation_p.C369Y|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	802	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AACAGTGGTTGCACAGGAAAG	0.493000													37	77					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968515	4968515	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chrY:4968515G>T	ENST00000333703.4	+	5	3376	c.2863G>T	c.(2863-2865)Gat>Tat	p.D955Y	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D966Y|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D966Y	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	966					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGACAGCCCTGATTTGGCCCG	0.463000													98	39					1.70018e-41	2.08827e-41	1	1	0
PRKAB2	5565	broad.mit.edu	37	1	146639477	146639477	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:146639477C>A	ENST00000254101.3	-	3	330	c.192G>T	c.(190-192)caG>caT	p.Q64H	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	64					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		p.Q64Q(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	CCTCCAAATCCTGCTGCCATG	0.507000													6	274					0.00116845	0.0011895	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12321060	12321060	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:12321060C>T	ENST00000358136.3	+	12	1398	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P423L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	423					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCCCAGAACCCGGTGGAGGC	0.562000													62	119					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217856683	217856683	+	Silent	SNP	A	A	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:217856683A>G	ENST00000366933.4	+	5	430	c.375A>G	c.(373-375)tcA>tcG	p.S125S		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	125						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAGTCGTTTCAGAGACCAATG	0.348000													41	78					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410835	105410835	+	Silent	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr14:105410835C>A	ENST00000333244.5	-	7	11072	c.10953G>T	c.(10951-10953)tcG>tcT	p.S3651S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3651						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCTGGGGCCGATACCCTGA	0.587000													102	173					1.09269e-41	1.35686e-41	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141032097	141032097	+	Silent	SNP	G	G	C			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:141032097G>C	ENST00000389484.3	-	85	14009	c.13038C>G	c.(13036-13038)gtC>gtG	p.V4346V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4346	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCGTTGGACAGACACATTCAA	0.408000										TSP Lung(27;0.18)			35	21					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947810	57947810	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:57947810G>T	ENST00000335397.3	+	3	1210	c.894G>T	c.(892-894)gaG>gaT	p.E298D		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AAGTGAAGGAGGCCCTGAGAA	0.473000													22	29					0.000229342	0.000235596	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	57					7.48243e-07	8.12995e-07	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167189381	167189381	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:167189381G>A	ENST00000476257.1	-	3	540	c.242C>T	c.(241-243)tCa>tTa	p.S81L	SERPINI2_ENST00000461846.1_Missense_Mutation_p.S81L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S81L|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S81L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	81					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTCACCAGCTGAGGTTTCCTG	0.363000													40	105					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	314					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCACATCATCGCCATGTGCTC	0.537000													17	33					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071232	73071232	+	RNA	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chrX:73071232G>A	ENST00000429829.1	-	0	1356					NR_001564.2																						CTGTGTGACCGCACATGTCCA	0.532000													4	202					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111730687	111730687	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:111730687C>T	ENST00000393917.2	+	4	985	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	TAGLN3_ENST00000486460.1_Missense_Mutation_p.R61W|TAGLN3_ENST00000478951.1_Missense_Mutation_p.R145W|TAGLN3_ENST00000273368.4_Missense_Mutation_p.R145W|TAGLN3_ENST00000455401.2_Missense_Mutation_p.R145W	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	145					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TGGCTGCTATCGGGGAGAGCC	0.542000													10	46					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846986	28846986	+	Silent	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:28846986C>T	ENST00000336783.4	+	21	2969	c.2802C>T	c.(2800-2802)tcC>tcT	p.S934S	ATXN2L_ENST00000325215.6_Silent_p.S934S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Silent_p.S934S|ATXN2L_ENST00000564304.1_Silent_p.S940S|ATXN2L_ENST00000395547.2_Silent_p.S934S|ATXN2L_ENST00000382686.4_Silent_p.S934S|ATXN2L_ENST00000340394.8_Silent_p.S934S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	934						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGCCCAGTCCCCTCAGAGCA	0.647000													3	53					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39775248	39775248	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:39775248A>C	ENST00000564288.1	+	24	3573	c.2796A>C	c.(2794-2796)gaA>gaC	p.E932D	MACF1_ENST00000317713.7_Missense_Mutation_p.E937D|MACF1_ENST00000567887.1_Missense_Mutation_p.E969D|MACF1_ENST00000372915.3_Missense_Mutation_p.E937D|MACF1_ENST00000361689.2_Missense_Mutation_p.E937D|MACF1_ENST00000539005.1_Missense_Mutation_p.E937D|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.E937D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	937					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTAGGGTCGAACAATCTTATC	0.408000													28	53					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902309	54902309	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:54902309G>A	ENST00000293373.6	+	5	579	c.500G>A	c.(499-501)gGg>gAg	p.G167E	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G117E	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	167					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGCTGCATGGGCATGGGTGA	0.428000													65	169					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011963	37011963	+	Silent	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr13:37011963C>T	ENST00000418263.1	+	3	842	c.492C>T	c.(490-492)gaC>gaT	p.D164D	CCNA1_ENST00000449823.1_Silent_p.D121D|CCNA1_ENST00000440264.1_Silent_p.D121D|CCNA1_ENST00000255465.4_Silent_p.D165D	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	165					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATGAAGTAGACACCGGCACAC	0.488000													28	37					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322568	17322568	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr19:17322568C>T	ENST00000595618.1	+	39	6195	c.6043C>T	c.(6043-6045)Cgg>Tgg	p.R2015W	MYO9B_ENST00000397274.2_Missense_Mutation_p.R2015W|MYO9B_ENST00000594824.1_Missense_Mutation_p.R2015W	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2015	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGGGCCGGGCGGGGGGCCTC	0.697000													18	39					0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11362922	11362922	+	Silent	SNP	G	G	A	rs139644228	by1000genomes	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:11362922G>A	ENST00000312693.3	-	1	267	c.198C>T	c.(196-198)tcC>tcT	p.S66S	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	66					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TCTGGTGGCCGGATGAGCTGT	0.622000													4	220					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				8	28	---	---	---	---					
UBE2Q1	55585	broad.mit.edu	37	1	154528354	154528360	+	Frame_Shift_Del	DEL	TATGTCC	TATGTCC	-			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr1:154528354_154528360delTATGTCC	ENST00000292211.4	-	2	487_493	c.408_414delGGACATA	c.(406-414)gtfs	p.VDI136fs	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	136							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTTTCTTTATGTCCACCAGCCTCT	0.522													9	51	---	---	---	---					
CPOX	1371	broad.mit.edu	37	3	98243871	98243871	+	RNA	DEL	G	G	-			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr3:98243871delG	ENST00000502999.1	+	0	264																											TTTTTTTTTTGTATTCTAATA	0.313													3	3	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140857945	140857945	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr5:140857945delG	ENST00000308177.3	+	1	2366	c.2262delG	c.(2260-2262)ccfs	p.P754fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTCGCCGCACCTTTACC	0.642											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	90	---	---	---	---					
EPHA1-AS1	285965	broad.mit.edu	37	7	143208738	143208738	+	RNA	DEL	C	C	-	rs34333193		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr7:143208738delC	ENST00000429289.1	+	0	263					NR_033897.1																						CCTGCGGTGGCCCCGGCGTGC	0.667													3	4	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													8	16	---	---	---	---					
TRIM32	22954	broad.mit.edu	37	9	119460090	119460091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:119460090_119460091insA	ENST00000450136.1	+	2	230_231	c.69_70insA	c.(67-72)tgtggafs	p.CG23fs	ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Frame_Shift_Ins_p.CG23fs|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	23					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCCCCATCTGCATGGAGTCCTT	0.554													18	44	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139418227	139418228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr9:139418227_139418228insC	ENST00000277541.6	-	3	419_420	c.344_345insG	c.(343-345)gacfs	p.D115fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	115	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCGCAGGTGCCCCCGTTGCG	0.688			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	10	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70520917	70520919	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr10:70520917_70520919delGAT	ENST00000265872.6	+	16	2193_2195	c.2074_2076delGAT	c.(2074-2076)del	p.D694del	CCAR1_ENST00000535016.1_In_Frame_Del_p.D679del|CCAR1_ENST00000543719.1_In_Frame_Del_p.D679del	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	694	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGGATGAGGATGATGATAGGA	0.340													17	27	---	---	---	---					
TRPM5	29850	broad.mit.edu	37	11	2444230	2444231	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr11:2444230_2444231insG	ENST00000452833.1	-	1	44_45	c.36_37insC	c.(34-39)ccgggafs	p.PG12fs	TRPM5_ENST00000533060.1_Frame_Shift_Ins_p.PG12fs|TRPM5_ENST00000155858.6_Frame_Shift_Ins_p.PG12fs|TRPM5_ENST00000528453.1_Frame_Shift_Ins_p.PG12fs			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	12						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCAGCATCCCCGGGGCTTCCGG	0.668													23	58	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49425978	49425978	+	Frame_Shift_Del	DEL	T	T	-	rs3741622	by1000genomes	TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:49425978delT	ENST00000301067.7	-	39	12509	c.12510delA	c.(12508-12510)ccfs	p.P4170fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.P3900P(1)									TGGGAGGTTGTGGCCCTGTAT	0.592													19	63	---	---	---	---					
PPTC7	160760	broad.mit.edu	37	12	110977626	110977626	+	Splice_Site	DEL	C	C	-			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr12:110977626delC	ENST00000354300.3	-	4	1015		c.e4+1			NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)								metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GAGTTAATTACCTTTAACTTT	0.393													17	41	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs57620493		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388													3	3	---	---	---	---					
IRX6	79190	broad.mit.edu	37	16	55360496	55360497	+	In_Frame_Ins	INS	-	-	GGG			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr16:55360496_55360497insGGG	ENST00000290552.7	+	2	1626_1627	c.294_295insGGG	c.(292-297)tagggc>taGGGgggc	p.99_100insG	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTCACTGTATGGGGCACTGGT	0.609													4	4	---	---	---	---					
CCDC144CP	348254	broad.mit.edu	37	17	20225136	20225136	+	RNA	DEL	A	A	-	rs112185038		TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:20225136delA	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							TTACTATTGCAAAAGTGTTGG	0.453													7	6	---	---	---	---					
LGALS3BP	3959	broad.mit.edu	37	17	76969075	76969076	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BB-7864-01A-11D-2229-08	TCGA-BB-7864-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d6324a3-8bb4-45d1-89b3-134ffca01aec	db5989e5-7e20-4c78-b78e-15cb47af9ee3	g.chr17:76969075_76969076delCA	ENST00000262776.3	-	5	913_914	c.605_606delTG	c.(604-606)gfs	p.V202fs	LGALS3BP_ENST00000585407.1_Frame_Shift_Del_p.V202fs|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	202	BTB.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGACCATGGGCACACACTCAGC	0.629													15	37	---	---	---	---					
