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
MAP2K7	5609	broad.mit.edu	37	19	7975005	7975005	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975005C>T	ENST00000545011.1	+	3	389	c.324C>T	c.(322-324)atC>atT	p.I108I	MAP2K7_ENST00000397981.3_Silent_p.I108I|MAP2K7_ENST00000397979.3_Silent_p.I108I|MAP2K7_ENST00000397983.3_Silent_p.I124I			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	108					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	ACCTGACCATCGGGGGCCAGG	0.662000													7	13					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29439334	29439334	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29439334G>A	ENST00000544604.2	+	4	724	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ZNRF3_ENST00000406323.3_Silent_p.V83V|ZNRF3_ENST00000402174.1_Silent_p.V83V|ZNRF3_ENST00000332811.4_Silent_p.V83V	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	183						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGGTGTATGTGAAGGGTGCAG	0.542000													16	81					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637000													9	76					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74325154	74325154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:74325154G>A	ENST00000355773.5	-	8	1263	c.995C>T	c.(994-996)tCa>tTa	p.S332L	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	332					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAAGGCAATGAAGATAAAAA	0.368000													10	36					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816809	82816809	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:82816809C>T	ENST00000265077.3	+	7	3249	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	VCAN_ENST00000342785.4_Missense_Mutation_p.S895L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S847L|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	895	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCAGAAAAGTCAACTTTGAGA	0.403000													16	117					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999678	72999678	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:72999678G>A	ENST00000322038.5	+	2	2765	c.2181G>A	c.(2179-2181)gcG>gcA	p.A727A	TSHZ1_ENST00000580243.1_Silent_p.A772A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	772						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCCGCTGGCGATGCTGTACA	0.582000													13	35					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724042	38724042	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:38724042A>C	ENST00000342213.2	-	1	1532	c.1186T>G	c.(1186-1188)Tct>Gct	p.S396A		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	396						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACCACGGCAGAGGAGGAGTCG	0.507000													7	32					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53001179	53001179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:53001179G>C	ENST00000378060.4	-	8	611	c.584C>G	c.(583-585)tCa>tGa	p.S195*		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	195					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AATTGATTTTGATAATTCCAC	0.299000													8	25					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21874967	21874967	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:21874967C>G	ENST00000429584.2	+	1	863	c.365C>G	c.(364-366)tCt>tGt	p.S122C	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ACCCTGGCCTCTCTGTCGGCC	0.587000													16	27					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860627	67860627	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67860627C>T	ENST00000388833.3	+	12	1649	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	TSNAXIP1_ENST00000415766.3_Silent_p.F409F|TSNAXIP1_ENST00000561639.1_Silent_p.F478F	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	424					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TCTTCAATTTCCTGGAGCATC	0.483000													35	112					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19060161	19060161	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:19060161C>G	ENST00000380502.3	-	15	2157	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E428Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	564					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTAGTTCCTCTAATTTTATT	0.368000													4	6					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84230975	84230975	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:84230975C>T	ENST00000376499.3	-	11	1904	c.840G>A	c.(838-840)aaG>aaA	p.K280K	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	280	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AAGCATCCTTCTTTAGCAGGC	0.483000													23	119					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005093	150005093	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150005093G>A	ENST00000543571.1	-	4	1679	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	LATS1_ENST00000253339.5_Silent_p.L378L|LATS1_ENST00000392273.3_Silent_p.L378L|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	378					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTGCTGTCAGAGGATATGGA	0.468000													16	54					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80726331	80726331	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:80726331C>T	ENST00000355528.4	+	5	601	c.471C>T	c.(469-471)ctC>ctT	p.L157L	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.L157L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	157					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGCTCTGGCTCTCCGTGACCT	0.502000													56	245					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46372238	46372238	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:46372238G>C	ENST00000306156.3	+	12	1926	c.1599G>C	c.(1597-1599)ttG>ttC	p.L533F		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	533	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCAGGGATTTGAAACTGGACA	0.488000													24	113					0	0	1	0	0
CHST14	113189	broad.mit.edu	37	15	40763941	40763941	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40763941G>A	ENST00000306243.5	+	1	782	c.529G>A	c.(529-531)Gac>Aac	p.D177N	CHST14_ENST00000559991.1_Missense_Mutation_p.D152N	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	177					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACAGCGTGGACGTCCGCCT	0.602000													16	71					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613356	51613356	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:51613356G>A	ENST00000371117.3	-	58	9333	c.9058C>T	c.(9058-9060)Ctg>Ttg	p.L3020L	PKHD1_ENST00000340994.4_Silent_p.L3020L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3020					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCTGGTGCAGAGTAGATGAT	0.443000													16	48					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71443670	71443670	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:71443670G>C	ENST00000304743.2	+	6	1062	c.616G>C	c.(616-618)Gat>Cat	p.D206H	PCNX_ENST00000238570.5_Missense_Mutation_p.D206H|PCNX_ENST00000439984.3_Missense_Mutation_p.D206H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	206						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTGGCAGCTGATCGGAAGCT	0.388000													5	62					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57095837	57095837	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57095837C>T	ENST00000278412.2	-	13	1811	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	515	Arg/Lys-rich (basic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTTTCCGCTTCTTCTCATCCC	0.567000													28	88					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86356884	86356884	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:86356884C>G	ENST00000376371.2	-	12	1436	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.E295Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	346					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTGGCTAACTCTGCTTGTAAT	0.294000													3	13					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39506982	39506982	+	Missense_Mutation	SNP	C	C	T	rs143698304	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39506982C>T	ENST00000007735.3	-	1	82	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	13	Head.					intermediate filament	protein binding|structural molecule activity	p.R13H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.642000													11	47					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115648826	115648826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:115648826C>A	ENST00000374228.4	-	3	1515	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	428						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCTGGTAGATCTTGTTGTACA	0.527000													25	144					4.87955e-14	5.14942e-14	1	1	0
NLN	57486	broad.mit.edu	37	5	65073341	65073341	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:65073341C>G	ENST00000380985.5	+	4	716	c.538C>G	c.(538-540)Ctt>Gtt	p.L180V	NLN_ENST00000502464.1_Missense_Mutation_p.L76V	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	180					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGGGCTCCATCTTCCTGAACA	0.338000													16	63					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73651783	73651783	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:73651783G>C	ENST00000264448.6	+	5	1101	c.990G>C	c.(988-990)ctG>ctC	p.L330L	ALMS1_ENST00000377715.1_Silent_p.L330L|ALMS1_ENST00000409009.1_Silent_p.L288L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	330					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTGATGAACTGAAAATTCCCA	0.403000													5	34					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314639	107314639	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:107314639G>C	ENST00000265715.3	+	5	670	c.446G>C	c.(445-447)gGa>gCa	p.G149A		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	149					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAATGGTGGGATCTGTTGTT	0.408000									Pendred syndrome				21	79					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737714	4737714	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:4737714C>T	ENST00000545990.2	-	5	878	c.354G>A	c.(352-354)ggG>ggA	p.G118G	AKAP3_ENST00000228850.1_Silent_p.G118G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	118			G -> E (in dbSNP:rs2072355).		acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTACTGAACTCCCGTTGCCAA	0.488000													18	70					0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124106419	124106419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:124106419C>G	ENST00000424014.2	-	9	1010	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	268					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGATGCTCCTCTTTGAGGTCT	0.517000													7	21					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134074826	134074826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:134074826C>T	ENST00000534548.2	-	9	1121	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	353					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)		AAGATACGGACGACTGGGAAT	0.398000													13	74					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765072	124765072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:124765072G>A	ENST00000306534.3	-	7	1539	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	ROBO4_ENST00000533054.1_Nonsense_Mutation_p.Q207*	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	352	Fibronectin type-III 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCACTTCCTGAGGTGGGGCA	0.587000													9	45					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12514212	12514212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:12514212C>T	ENST00000314565.4	+	2	462	c.131C>T	c.(130-132)tCa>tTa	p.S44L	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.S25L	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	44										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TCCCAGGCCTCACGGAACGTC	0.463000													30	75					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96639321	96639321	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:96639321C>G	ENST00000518156.2	+	3	1274	c.844C>G	c.(844-846)Cca>Gca	p.P282A	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.P154A|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.P254A|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	164					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTACTCCTCTCCACACCAGGA	0.572000													3	16					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184546	72184546	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:72184546C>T	ENST00000537465.1	-	5	755	c.597G>A	c.(595-597)gtG>gtA	p.V199V	PMFBP1_ENST00000237353.10_Silent_p.V199V|PMFBP1_ENST00000355636.6_Silent_p.V54V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	199										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCAACATCTTCACTTGGCATT	0.532000													40	199					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86118709	86118709	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:86118709C>G	ENST00000278487.3	+	8	1363	c.284C>G	c.(283-285)tCt>tGt	p.S95C	CCDC81_ENST00000445632.2_Missense_Mutation_p.S312C|CCDC81_ENST00000354755.1_Missense_Mutation_p.S222C|CCDC81_ENST00000528728.1_Missense_Mutation_p.S95C			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	312										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCCCAAACATCTCCAGCTTGC	0.368000													3	27					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139625	3139625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:3139625G>A	ENST00000252463.2	-	5	1732	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R210W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R467W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	549					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGTGGGGCCGAGGGCCACCG	0.716000													4	7					0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54671879	54671879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:54671879G>T	ENST00000332822.4	+	1	820	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	99					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					TGGGGGCGCGGAGGACCTGGC	0.751000													3	11					0.115264	0.115884	1	1	0
CYP2C18	1562	broad.mit.edu	37	10	96454828	96454828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96454828G>A	ENST00000285979.6	+	4	835	c.636G>A	c.(634-636)tgG>tgA	p.W212*	CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.W212*|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCTCTCCATGGATCCAGGTGA	0.308000													4	33					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276983	152276983	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152276983G>A	ENST00000368799.1	-	3	10414	c.10379C>T	c.(10378-10380)tCa>tTa	p.S3460L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3460	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCCTGAGTGTCCAGA	0.572000									Ichthyosis				10	534					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356202	37356202	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:37356202C>T	ENST00000217420.1	+	2	761	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	166					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCAAGATCCTCATCGCGTGCC	0.637000													5	95					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122685313	122685313	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:122685313G>C	ENST00000339777.4	+	10	1669	c.1641G>C	c.(1639-1641)aaG>aaC	p.K547N	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.K362N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	547	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCTGAAGAAGAAGAAAGAGC	0.687000													11	46					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724874	71724874	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71724874G>A	ENST00000393695.3	-	15	4006	c.3675C>T	c.(3673-3675)agC>agT	p.S1225S	NUMA1_ENST00000358965.6_Silent_p.S1225S|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1225					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGATGAGGCTATTTTTCC	0.602000			T	RARA	APL								34	105					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144181686	144181686	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:144181686G>A	ENST00000367576.5	+	7	1053	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	307										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGAGAAGGCAGAGAAGTATAG	0.333000													11	73					0	0	1	0	0
RPS15A	6210	broad.mit.edu	37	16	18796110	18796110	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:18796110G>C	ENST00000322989.4	-	4	344	c.249C>G	c.(247-249)ctC>ctG	p.L83L	RPS15A_ENST00000563390.1_Silent_p.L83L|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000565420.1_Silent_p.L83L|RPS15A_ENST00000576436.1_3'UTR|RPS15A_ENST00000569083.1_Silent_p.L83L	NM_001019.4	NP_001010.2	P62244	RS15A_HUMAN	ribosomal protein S15a	83					endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2						CCAGGTCTTTGAGTTGCACGT	0.373000													12	149					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962616	167962616	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:167962616G>C	ENST00000367840.3	+	7	935	c.841G>C	c.(841-843)Gac>Cac	p.D281H	DCAF6_ENST00000312263.6_Missense_Mutation_p.D281H|DCAF6_ENST00000432587.2_Missense_Mutation_p.D250H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D281H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	281					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATATCTTTTTGACCCGAAAGA	0.423000													11	35					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117402570	117402570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:117402570C>T	ENST00000455858.2	+	5	621	c.548C>T	c.(547-549)tCa>tTa	p.S183L	FBXW8_ENST00000309909.5_Missense_Mutation_p.S249L	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	249							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TTCCTGGAATCAGAGGACGAG	0.512000													30	136					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113213691	113213691	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:113213691G>C	ENST00000261965.3	-	4	461	c.275C>G	c.(274-276)tCa>tGa	p.S92*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.S92*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	92					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTAGAGTATTGACCATTTATT	0.438000													6	44					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622107	18622107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:18622107C>T	ENST00000379989.3	+	13	1348	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	CDKL5_ENST00000379996.3_Missense_Mutation_p.R355W|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	355					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGCCTGCCCCGGGCTGACGA	0.493000													58	100					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42245279	42245279	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:42245279C>G	ENST00000379310.3	-	37	4482	c.4414G>C	c.(4414-4416)Gaa>Caa	p.E1472Q		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GAGAGAGATTCTGATCTGGAA	0.438000													28	82					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99003902	99003902	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:99003902G>C	ENST00000453547.2	-	8	1007	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.L336L|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.L307L|ARHGAP19_ENST00000355366.5_Silent_p.L327L|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000371027.1_Silent_p.L327L|ARHGAP19_ENST00000358531.4_Silent_p.L336L																							ATGAAGCTATGAGGTCAAGGT	0.428000													16	54					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43546766	43546766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:43546766C>G	ENST00000395891.1	+	22	4267	c.3662C>G	c.(3661-3663)tCc>tGc	p.S1221C	HECW1_ENST00000453890.1_Missense_Mutation_p.S1187C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1221					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGAGCCCCTTCCCCCTACCGA	0.463000													10	47					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129877957	129877957	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:129877957C>G	ENST00000254667.3	+	20	2305	c.2026C>G	c.(2026-2028)Ctg>Gtg	p.L676V	PTPRE_ENST00000419012.2_Missense_Mutation_p.L676V|PTPRE_ENST00000306042.5_Missense_Mutation_p.L618V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	676	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGTGCAAACCCTGGTAAGAAT	0.398000													14	42					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891352	11891352	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11891352C>G	ENST00000357901.4	+	4	815	c.713C>G	c.(712-714)tCc>tGc	p.S238C	ZNF441_ENST00000454339.2_Missense_Mutation_p.S171C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATAGTTCCACTCTAAGA	0.373000													6	50					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880523	42880523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:42880523G>A	ENST00000431473.3	+	5	1183	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	352					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TAGTGAAAGTGAGCCTGAACT	0.552000													17	77					0	0	1	0	0
CXCL16	58191	broad.mit.edu	37	17	4642687	4642687	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4642687G>T	ENST00000293778.6	-	1	427	c.5C>A	c.(4-6)tCt>tAt	p.S2Y	CXCL16_ENST00000574412.1_Missense_Mutation_p.S2Y	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	0					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGACTCCCAGACATGCTCCG	0.711000													5	25					8.12818e-05	8.29678e-05	1	1	0
FAT1	2195	broad.mit.edu	37	4	187560919	187560919	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187560919G>C	ENST00000441802.2	-	4	3808	c.3599C>G	c.(3598-3600)tCa>tGa	p.S1200*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1200	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGCTTCCTTGACGTAGTTGT	0.328000										HNSCC(5;0.00058)			8	68					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34646747	34646747	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:34646747G>C	ENST00000378842.3	+	1	88	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	GALT_ENST00000556278.1_Missense_Mutation_p.E16Q|GALT_ENST00000450095.2_5'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	16					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCGTCAGAGGCGGACGC	0.667000									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	77					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179609568	179609568	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:179609568G>A	ENST00000444136.1	+	11	2038	c.1788G>A	c.(1786-1788)gtG>gtA	p.V596V	TDRD5_ENST00000367614.1_Silent_p.V596V|TDRD5_ENST00000294848.8_Silent_p.V596V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	596					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGCTTGGGTGAGACCAGTAG	0.408000													7	71					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118812932	118812932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:118812932C>T	ENST00000368491.3	-	6	1975	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	CEP85L_ENST00000368488.5_Missense_Mutation_p.E455K|CEP85L_ENST00000360290.3_Missense_Mutation_p.E350K|CEP85L_ENST00000392500.3_Missense_Mutation_p.E455K|CEP85L_ENST00000419517.2_Missense_Mutation_p.E452K	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	452						centrosome											ACTTCTTTCTCAGTAGATGCA	0.368000													4	39					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61084791	61084791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:61084791G>A	ENST00000196169.3	+	10	1552	c.764G>A	c.(763-765)aGa>aAa	p.R255K	TDRD3_ENST00000377894.2_Missense_Mutation_p.R255K|TDRD3_ENST00000535286.1_Missense_Mutation_p.R348K|TDRD3_ENST00000377881.2_Missense_Mutation_p.R255K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	255					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.R255I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGGCGAATAAGATCTGAAGAT	0.368000													18	53					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	rs41549014		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			10	26					4.68919e-08	4.86075e-08	1	1	0
RGS18	64407	broad.mit.edu	37	1	192150586	192150586	+	Missense_Mutation	SNP	G	G	C	rs140969834		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:192150586G>C	ENST00000367460.3	+	4	629	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	150	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCCAAAAGAGGTACAGTA	0.269000													7	38					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225432	192225432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:192225432C>G	ENST00000392318.3	+	8	885	c.638C>G	c.(637-639)tCt>tGt	p.S213C	MYO1B_ENST00000392316.1_Missense_Mutation_p.S213C|MYO1B_ENST00000339514.4_Missense_Mutation_p.S213C|MYO1B_ENST00000304164.4_Missense_Mutation_p.S213C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	213	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.S213C(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGCTGCTCTCTGGTGCCTCT	0.413000													38	102					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474551	84474551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:84474551G>A	ENST00000416219.2	+	14	1387	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G433E|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	433					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCTCAGTGGGAAAGTTAGTG	0.493000													5	23					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15591402	15591402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:15591402G>C	ENST00000380701.3	+	5	719	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	CCDC171_ENST00000297641.3_Missense_Mutation_p.E131Q|CCDC171_ENST00000535968.1_Missense_Mutation_p.E131Q	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	131	Glu-rich.																AAATGAGACTGAGAAAGCATT	0.338000													5	28					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30040777	30040777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:30040777G>A	ENST00000380495.4	-	2	916	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM57B_ENST00000564806.1_Missense_Mutation_p.S12F|FAM57B_ENST00000279389.4_Missense_Mutation_p.S12F	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	62	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGCTTGCAGGAGGTGGAGAC	0.607000													12	47					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31128423	31128423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:31128423C>T	ENST00000597505.1	-	11	1671	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	218					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGGCCATTCTCATCAAAAAGC	0.418000											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	43					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350671	41350671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41350671C>T	ENST00000301141.5	-	8	1188	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	390					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGGAACACTTCGGTGCCCTGG	0.572000													37	68					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565312	169565312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:169565312C>T	ENST00000263686.6	-	12	1989	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	SELP_ENST00000367791.2_Missense_Mutation_p.G465E|SELP_ENST00000458599.2_Missense_Mutation_p.G467E|SELP_ENST00000367794.2_Missense_Mutation_p.G589E|SELP_ENST00000367786.2_Missense_Mutation_p.G589E|SELP_ENST00000367793.2_Missense_Mutation_p.G589E|SELP_ENST00000367792.2_Missense_Mutation_p.G467E|SELP_ENST00000367788.2_Missense_Mutation_p.G589E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	651	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTACATGGTTCCCTGCCCAGG	0.493000													40	224					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72428456	72428456	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:72428456T>G	ENST00000477973.1	-	2	545	c.546A>C	c.(544-546)gaA>gaC	p.E182D		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTCCTTGTCTTTCTCAGGTTT	0.408000													17	84					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36359043	36359043	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:36359043C>G	ENST00000312412.4	-	6	648		c.e6-1		RP11-1407O15.2_ENST00000544906.1_Splice_Site																kidney(1)|lung(3)	4						CAATTACATTCTTTAAGAAAG	0.358000													7	151					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695726	29695726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29695726G>C	ENST00000397938.2	+	16	2135	c.1816G>C	c.(1816-1818)Gac>Cac	p.D606H	EWSR1_ENST00000414183.2_Missense_Mutation_p.D611H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D605H|EWSR1_ENST00000332035.6_Missense_Mutation_p.D550H|EWSR1_ENST00000332050.6_Missense_Mutation_p.D533H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D568H	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	606	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCGGGGCATGGACCGAGGTGG	0.642000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								6	22					0	0	1	0	0
CLDN23	137075	broad.mit.edu	37	8	8559962	8559962	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:8559962C>G	ENST00000519106.1	+	1	515	c.54C>G	c.(52-54)ctC>ctG	p.L18L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	18					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CCTGCGGGCTCCTGCTCAACC	0.711000													8	30					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38640807	38640807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:38640807G>C	ENST00000254051.6	-	6	1588	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	477	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCGGTATGAAGAGCTGTCCCT	0.582000													12	54					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474818	120474818	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:120474818C>G	ENST00000355622.6	+	3	513	c.412C>G	c.(412-414)Cta>Gta	p.L138V	TLR4_ENST00000394487.4_Missense_Mutation_p.L98V|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	138					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L138I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGAGACAAATCTAGCATCTCT	0.408000													16	60					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33613772	33613772	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:33613772G>C	ENST00000399022.4	-	2	351	c.180C>G	c.(178-180)ctC>ctG	p.L60L	RPRD1A_ENST00000319040.6_Silent_p.L60L|RPRD1A_ENST00000590898.1_Silent_p.L24L|RPRD1A_ENST00000588737.1_Silent_p.L24L|RPRD1A_ENST00000337059.5_Silent_p.L24L|RPRD1A_ENST00000357384.4_Silent_p.L60L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	60	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TGGCTAGGTAGAGAAAAGTAA	0.348000													10	46					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917154	40917154	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40917154G>C	ENST00000346991.5	+	11	5160	c.4770G>C	c.(4768-4770)ttG>ttC	p.L1590F	CASC5_ENST00000399668.2_Missense_Mutation_p.L1564F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1590					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAATAATTTGAATGGAAAAA	0.358000													14	45					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156243190	156243190	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:156243190C>T	ENST00000361813.5	-	6	740	c.596G>A	c.(595-597)aGa>aAa	p.R199K	SMG5_ENST00000368267.4_Missense_Mutation_p.R199K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	199					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GTAGTAAAATCTCTCGGCTAG	0.468000													8	27					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60448648	60448648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:60448648C>G	ENST00000296597.5	+	4	503	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_3'UTR	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	126						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TCCACCAGTTCAAACTCAAAT	0.423000													3	11					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427634	97427634	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:97427634G>A	ENST00000377075.2	+	1	996	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	300	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGCTGTGGGTGCCAACACCAT	0.557000													4	114					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918493	16918493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16918493C>T	ENST00000430580.2	-	7	911	c.24G>A	c.(22-24)tgG>tgA	p.W8*		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	8						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTCGCTGGACCAAGGGCCAG	0.493000													40	405					0	0	1	0	0
RPL32	6161	broad.mit.edu	37	3	12880876	12880876	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:12880876C>G	ENST00000429711.2	-	3	349	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	RPL32_ENST00000396957.1_Missense_Mutation_p.E84Q|RPL32_ENST00000273223.6_Missense_Mutation_p.E102Q|RPL32_ENST00000435983.1_Missense_Mutation_p.E84Q|RPL32_ENST00000396953.2_Missense_Mutation_p.E84Q	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	84					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACTTCCAGCTCCTTGACGTTG	0.498000													39	137					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23112769	23112769	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:23112769G>A	ENST00000397677.1	+	4	1129	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CHMP7_ENST00000313219.7_Missense_Mutation_p.E161K	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	161					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGAAAAGGCTGAGGAGGTGTA	0.577000													9	34					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886113	23886113	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:23886113C>T	ENST00000355349.3	-	33	4770	c.4608G>A	c.(4606-4608)gaG>gaA	p.E1536E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1536					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCCATCTTCTCGGCCTCCA	0.597000													20	80					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154246309	154246309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:154246309C>T	ENST00000328703.7	+	3	589	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	HAX1_ENST00000483970.2_Missense_Mutation_p.R134W|HAX1_ENST00000532105.1_5'UTR|HAX1_ENST00000457918.2_Missense_Mutation_p.R78W	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	126	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAGACACTTCGGGACTCAAT	0.542000									Kostmann syndrome				8	162					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2746661	2746661	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:2746661G>C	ENST00000510267.1	-	4	775	c.348C>G	c.(346-348)ctC>ctG	p.L116L	TNIP2_ENST00000315423.7_Silent_p.L223L|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	223						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCATTGAGGTCTTCAA	0.587000													5	54					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	40					0	0	1	0	0
LINC00886	730091	broad.mit.edu	37	3	156527299	156527299	+	RNA	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:156527299G>A	ENST00000472943.1	-	0	148					NR_038387.1																						GTGGGAAGGGGATGAGGCAGG	0.602000													10	32					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168319465	168319465	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:168319465G>A	ENST00000366806.2	+	20	2881	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	MLLT4_ENST00000400822.3_Silent_p.L912L|MLLT4_ENST00000392108.3_Silent_p.L913L|MLLT4_ENST00000392112.1_Silent_p.L897L|MLLT4_ENST00000351017.4_Silent_p.L920L|MLLT4_ENST00000447894.2_Silent_p.L913L|MLLT4_ENST00000344191.4_Silent_p.L913L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	913					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCGATGAGCTGGCCCGCAGTG	0.458000			T	MLL	AL								14	51					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150752435	150752435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:150752435G>A	ENST00000485972.1	-	8	1190	c.509C>T	c.(508-510)cCg>cTg	p.P170L	CDK5_ENST00000297518.4_Missense_Mutation_p.P138L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	170	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		GAGGACATCCGGTGGGCGGTA	0.612000													15	35					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61874040	61874040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:61874040C>T	ENST00000280772.1	-	26	3082	c.2891G>A	c.(2890-2892)aGc>aAc	p.S964N	ANK3_ENST00000503366.1_Missense_Mutation_p.S965N|ANK3_ENST00000373827.2_Missense_Mutation_p.S958N|ANK3_ENST00000355288.2_Missense_Mutation_p.S98N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	964					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAGCCCAGCTGTAATGTCT	0.348000													4	41					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35185891	35185891	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:35185891C>T	ENST00000156471.5	-	23	2769	c.2544G>A	c.(2542-2544)agG>agA	p.R848R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	848						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAATTAGAGTCCTCTGTTCTG	0.463000													8	104					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101776993	101776993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:101776993G>A	ENST00000261637.4	+	59	8005	c.7831G>A	c.(7831-7833)Gaa>Aaa	p.E2611K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2611					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGAGGTGAAGGAAGAGCTCGG	0.522000													7	42					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119594311	119594311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:119594311G>A	ENST00000267260.4	+	13	1932	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	515	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCCGGAAACGCCCCATCCCC	0.672000													8	32					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182870195	182870195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:182870195G>A	ENST00000265598.3	-	3	1111	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q262*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	286					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AATCCGCCCTGAAAATTCAAC	0.502000													76	213					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58728270	58728270	+	Missense_Mutation	SNP	C	C	T	rs139831294	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:58728270C>T	ENST00000295966.7	-	16	2112	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	C3orf67_ENST00000482387.1_Missense_Mutation_p.E663K	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	532										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGTACTTCCTCGTCCTCTTCC	0.502000													5	42					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3031505	3031505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:3031505G>A	ENST00000448120.2	+	4	382	c.331G>A	c.(331-333)Gat>Aat	p.D111N	TULP3_ENST00000397132.2_Missense_Mutation_p.D111N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	111					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGGAAGAAGATGCTGAAAA	0.458000													4	97					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151258894	151258894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:151258894C>T	ENST00000368879.2	+	2	225	c.127C>T	c.(127-129)Cca>Tca	p.P43S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGGGAAGCCAGAACCAGG	0.577000													18	81					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47976510	47976510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:47976510C>T	ENST00000289672.2	-	4	381	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	111					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGTGTTTTTTCATTAACAACA	0.358000													24	92					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005481	74005481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:74005481C>T	ENST00000301607.3	-	22	4058	c.3805G>A	c.(3805-3807)Gag>Aag	p.E1269K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1291K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1269	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGTCGATCTCACGCAGCACC	0.672000													30	108					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219289018	219289018	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219289018G>T	ENST00000248444.5	+	3	182	c.94G>T	c.(94-96)Gtt>Ttt	p.V32F	VIL1_ENST00000440053.1_Missense_Mutation_p.V32F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	32	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGGTGCCTGTTCCTTCCAG	0.617000													13	55					2.32078e-09	2.4191e-09	1	1	0
NNT	23530	broad.mit.edu	37	5	43659398	43659398	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:43659398C>T	ENST00000264663.5	+	17	2801	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	NNT_ENST00000344920.4_Silent_p.I860I|NNT_ENST00000512996.2_Silent_p.I729I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	860					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGCTGACCATCGTGGGTGCAC	0.507000													14	41					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071392	240071392	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:240071392G>C	ENST00000255380.4	+	5	1420	c.641G>C	c.(640-642)aGa>aCa	p.R214T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	214					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTTGGAAAGAGAACTGTGCCT	0.493000													41	157					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29283366	29283366	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:29283366C>T	ENST00000330889.3	+	10	1325	c.990C>T	c.(988-990)ctC>ctT	p.L330L	ADAP2_ENST00000580525.1_Silent_p.L336L|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	330	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAGCCGGACTCACCATTGTCA	0.567000													12	60					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615340	17615340	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:17615340C>T	ENST00000252595.7	+	12	1957	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Silent_p.F620F|SLC27A1_ENST00000598424.1_Silent_p.F441F	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	620					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCTCTTCTTCCTGGACCTGA	0.597000													21	88					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381553	156381553	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:156381553C>T	ENST00000274532.2	-	2	329	c.273G>A	c.(271-273)ccG>ccA	p.P91P	TIMD4_ENST00000407087.3_Silent_p.P91P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	91	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCACCTCTCGGGATAGTCC	0.517000													15	57					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20108932	20108932	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:20108932G>C	ENST00000395530.2	+	2	1535	c.1327G>C	c.(1327-1329)Gaa>Caa	p.E443Q	SPECC1_ENST00000261503.5_Missense_Mutation_p.E524Q|SPECC1_ENST00000395529.3_Missense_Mutation_p.E524Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.E524Q|SPECC1_ENST00000395522.2_Missense_Mutation_p.E443Q|SPECC1_ENST00000536879.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.E443Q	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	524						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGAGTTTCTAGAACTGGAACG	0.388000													25	90					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325454	31325454	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:31325454A>G	ENST00000269197.5	+	12	5642	c.5642A>G	c.(5641-5643)aAg>aGg	p.K1881R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGCTAAACAAGCACTCCATG	0.498000													36	226					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149803513	149803513	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:149803513G>T	ENST00000435030.1	+	8	1058	c.690G>T	c.(688-690)ttG>ttT	p.L230F	KIF5C_ENST00000414838.2_Missense_Mutation_p.L135F			O60282	KIF5C_HUMAN	kinesin family member 5C	230	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AACTTTATTTGGTTGATTTGG	0.308000													5	19					1.23904e-05	1.27029e-05	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:18242228C>T	ENST00000377369.2	+	2	296	c.23C>T	c.(22-24)tCa>tTa	p.S8L	SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	8					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACAAAGCTCTCAGTATCCTGG	0.502000													21	60					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492767	62492767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62492767C>T	ENST00000539111.2	-	1	387	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	107					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CAGGTTCTTCCGCAACTCTAC	0.602000													25	93					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34385641	34385641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:34385641C>T	ENST00000297623.2	-	2	472	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	92										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTACCTTCCTCTTGAGAAAGC	0.483000													14	41					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126370029	126370029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:126370029G>C	ENST00000287437.3	+	7	811	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	NSMCE2_ENST00000522563.1_Missense_Mutation_p.E199Q|NSMCE2_ENST00000517315.1_Missense_Mutation_p.E139Q	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	199					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCGCATGATTGAGTCCAGGCA	0.498000													11	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067695	9067695	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9067695T>C	ENST00000397910.4	-	3	19954	c.19751A>G	c.(19750-19752)gAg>gGg	p.E6584G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6586	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACATTTTCTCTGTATCTTT	0.453000													30	91					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264824	42264824	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:42264824G>A	ENST00000327628.5	+	16	2857	c.2457G>A	c.(2455-2457)ctG>ctA	p.L819L	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.L761L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	819					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCTCCATCCTGAGGGAAGTGA	0.577000													7	47					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9462001	9462001	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462001G>A	ENST00000379719.3	+	23	2837		c.e23-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGACTTGGCAGAGGAACTGGG	0.358000													7	52					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128322843	128322843	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:128322843C>G	ENST00000389524.4	+	4	221	c.168C>G	c.(166-168)ctC>ctG	p.L56L	MYO7B_ENST00000428314.1_Silent_p.L56L|MYO7B_ENST00000409816.2_Silent_p.L56L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	56						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTGGTGTCCTCAGTCCCATGC	0.622000													5	29					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616414	86616414	+	Silent	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:86616414A>G	ENST00000325875.3	+	3	845	c.513A>G	c.(511-513)ggA>ggG	p.G171G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	171					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGATTTATGGAAATATATCTT	0.358000													12	44					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670115	8670115	+	Missense_Mutation	SNP	C	C	T	rs61750006	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:8670115C>T	ENST00000270328.4	-	3	483	c.217G>A	c.(217-219)Gag>Aag	p.E73K	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E73K			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	73					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGGCGGGACTCGGCTGTGGCC	0.687000													10	35					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898652	6898652	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:6898652C>T	ENST00000379829.2	+	1	797	c.774C>T	c.(772-774)ctC>ctT	p.L258L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCCATCCTCACGTATTTCC	0.522000													21	99					0	0	1	0	0
NAA20	51126	broad.mit.edu	37	20	20013775	20013775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:20013775G>A	ENST00000398602.2	+	6	1080	c.445G>A	c.(445-447)Gag>Aag	p.E149K	NAA20_ENST00000334982.4_Missense_Mutation_p.E161K|NAA20_ENST00000310450.4_Silent_p.*112*|NAA20_ENST00000484480.1_3'UTR	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	161	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						CAGGGATACTGAGAAGAAATC	0.368000													4	73					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165365022	165365022	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:165365022G>A	ENST00000263915.3	-	8	1504	c.966C>T	c.(964-966)ctC>ctT	p.L322L	GRB14_ENST00000543549.1_Silent_p.L235L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	322	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTCTGCACAGAGCATTTTCA	0.473000													11	43					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72428484	72428484	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:72428484C>G	ENST00000477973.1	-	2	517	c.518G>C	c.(517-519)tGa>tCa	p.*173S		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTGCTTTTCAACTTTCTCC	0.418000													18	53					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150004897	150004897	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150004897G>C	ENST00000543571.1	-	4	1875	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.S443*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.S443*|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	443					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTCGGGGATGACTGGGCTGG	0.428000													59	180					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58378451	58378451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:58378451G>A	ENST00000316059.6	+	5	817	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	216	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.E216K(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGAGGAAGAAGAGATGTTAAT	0.383000													8	41					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595342	7595342	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7595342C>T	ENST00000264079.6	+	12	1655	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	510					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACATGGTGCTCAGCCTCTTCA	0.632000													59	252					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302755	163302755	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:163302755C>G	ENST00000332142.5	-	7	1426	c.1327G>C	c.(1327-1329)Gaa>Caa	p.E443Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.E436Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	443					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.E436Q(1)|p.E443Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAGCCACATTCTCGTCTTTTC	0.378000													7	51					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875575	4875575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:4875575G>A	ENST00000298375.7	+	3	312	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Missense_Mutation_p.E81K|AKR1E2_ENST00000345253.5_Missense_Mutation_p.E81K|AKR1E2_ENST00000532248.1_Missense_Mutation_p.E81K	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	81						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GTCCTTGGTGGAAACAGCATG	0.532000													29	102					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80256689	80256689	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:80256689C>T	ENST00000265080.4	+	1	199	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	44	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTGGTTCGCCCTCTACC	0.657000													17	42					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15172229	15172229	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:15172229C>G	ENST00000378165.4	-	7	882	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	NMT2_ENST00000540259.1_Missense_Mutation_p.E80Q|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.E255Q|NMT2_ENST00000535341.1_Missense_Mutation_p.E255Q	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	268					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTAGTGATCTCTCGGATTAGC	0.463000													20	68					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979214	92979214	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:92979214C>G	ENST00000370331.1	-	18	2441	c.2432G>C	c.(2431-2433)tGa>tCa	p.*811S	EVI5_ENST00000543509.1_Nonstop_Mutation_p.*822S|EVI5_ENST00000540033.1_Nonstop_Mutation_p.*811S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	0					cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CAGTGATGGTCAGACAGTGGT	0.408000													24	145					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137666860	137666860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:137666860C>T	ENST00000323760.6	-	2	288	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CDC25C_ENST00000348983.3_Missense_Mutation_p.E4K|CDC25C_ENST00000357274.3_Missense_Mutation_p.E4K|CDC25C_ENST00000514555.1_Missense_Mutation_p.E4K|CDC25C_ENST00000513970.1_Missense_Mutation_p.E4K|CDC25C_ENST00000415130.2_Missense_Mutation_p.E4K|CDC25C_ENST00000356505.3_Missense_Mutation_p.E4K	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	4					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGAGTTCCGTAGACATG	0.453000													21	45					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20851093	20851093	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:20851093G>C	ENST00000261377.6	+	14	1609	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.R467T|AC004381.6_ENST00000348433.6_Missense_Mutation_p.R467T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GAGCAGGCCAGAGTGGAAATC	0.453000													37	203					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160966550	160966550	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:160966550C>T	ENST00000447678.1	-	34	5440	c.5320G>A	c.(5320-5322)Gat>Aat	p.D1774N	LPA_ENST00000316300.5_Missense_Mutation_p.D1774N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4282	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATGTCACCATCAGGGTTACGG	0.453000													8	63					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9195667	9195667	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:9195667C>T	ENST00000383440.2	+	3	463	c.206C>T	c.(205-207)tCa>tTa	p.S69L	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S69L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S69L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	69						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTAGCCCATCAAGAAATGAA	0.358000													10	34					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231442	94231442	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:94231442G>C	ENST00000544612.1	+	3	961	c.464G>C	c.(463-465)aGa>aCa	p.R155T	ANKRD49_ENST00000302755.4_Missense_Mutation_p.R155T|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	155					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAATACCAGAGTGGCTTCT	0.507000													9	47					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31496210	31496210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31496210C>T	ENST00000330498.3	+	3	288	c.269C>T	c.(268-270)gCa>gTa	p.A90V		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	90					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						ACTGGCGCTGCAAGTGGCTTG	0.602000													11	48					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35902354	35902354	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:35902354G>C	ENST00000339208.6	-	15	3062	c.2922C>G	c.(2920-2922)acC>acG	p.T974T	SYNRG_ENST00000502449.2_Silent_p.T851T|SYNRG_ENST00000591288.1_Silent_p.T768T|SYNRG_ENST00000346661.4_Silent_p.T974T|SYNRG_ENST00000345615.4_Silent_p.T896T|SYNRG_ENST00000585472.1_Silent_p.T895T|SYNRG_ENST00000394378.2_Silent_p.T896T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	974					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTGCTCACTGGTCTGAGGAA	0.483000													24	75					0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30879235	30879235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:30879235C>T	ENST00000259895.4	+	8	923	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	GTF2H4_ENST00000376316.2_Missense_Mutation_p.L234F|GTF2H4_ENST00000539324.1_Missense_Mutation_p.L178F	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	234					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGTAGAGATTCTCTCCTTCCT	0.542000								Nucleotide excision repair (NER)					32	105					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776545	31776545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:31776545G>A	ENST00000382902.1	-	11	1846	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L	OTUD7A_ENST00000307050.4_Missense_Mutation_p.S578L			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	578						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGTGCTGGCCGACGCACCAGA	0.716000													3	13					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9413844	9413844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:9413844C>T	ENST00000310430.6	+	1	421	c.395C>T	c.(394-396)tCt>tTt	p.S132F	TNKS_ENST00000522110.1_Missense_Mutation_p.S132F|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.S132F	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	132	Poly-Ser.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCGTCGTCCTCTTCTTCCCCG	0.637000													52	233					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		600	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716000													21	286					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33998857	33998857	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:33998857G>A	ENST00000262325.7	+	15	2627	c.2074G>A	c.(2074-2076)Gac>Aac	p.D692N	AP2B1_ENST00000592545.1_Missense_Mutation_p.D668N|AP2B1_ENST00000312678.8_Missense_Mutation_p.D706N|AP2B1_ENST00000589344.1_Missense_Mutation_p.D706N|AP2B1_ENST00000538556.1_Missense_Mutation_p.D635N|AP2B1_ENST00000537622.2_Missense_Mutation_p.D706N|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	692	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGACTGAATGACCTGTTTGA	0.478000													29	105					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95658449	95658449	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:95658449C>T	ENST00000433389.2	+	4	619	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ESRP1_ENST00000358397.5_Silent_p.F143F|ESRP1_ENST00000454170.2_Silent_p.F143F|ESRP1_ENST00000423620.2_Silent_p.F143F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	143					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GAAAAGAATTCAAGAAATGTT	0.353000													21	74					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931941	55931941	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:55931941G>A	ENST00000389286.4	-	13	2270	c.2223C>T	c.(2221-2223)caC>caT	p.H741H		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	741	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCTCCTCCAGTGCAGGAAGA	0.498000													29	89					0	0	1	0	0
TMEM64	169200	broad.mit.edu	37	8	91643862	91643862	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:91643862G>C	ENST00000458549.2	-	2	1046	c.869C>G	c.(868-870)tCt>tGt	p.S290C	TMEM64_ENST00000519519.1_Missense_Mutation_p.S29C|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	290						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			ACCCAAGTAAGAATTCAGAAG	0.418000													11	69					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255055	51255055	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:51255055G>A	ENST00000404971.1	-	2	1696	c.357C>T	c.(355-357)atC>atT	p.I119I	NRXN1_ENST00000401669.2_Silent_p.I119I|NRXN1_ENST00000406316.2_Silent_p.I119I|NRXN1_ENST00000405472.3_Silent_p.I119I|NRXN1_ENST00000406859.3_Silent_p.I119I|NRXN1_ENST00000405581.1_Silent_p.I119I|NRXN1_ENST00000402717.3_Silent_p.I119I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	119	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGGCGGCGGATGCGCACGC	0.667000													8	28					0	0	1	0	0
ZNF879	345462	broad.mit.edu	37	5	178460439	178460439	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:178460439C>G	ENST00000444149.2	+	5	1678	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AACCAAAGCTCAGCTCTAATT	0.403000													3	10					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37599807	37599807	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:37599807G>C	ENST00000300651.6	-	3	430	c.207C>G	c.(205-207)ctC>ctG	p.L69L	MED1_ENST00000394287.3_Silent_p.L69L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	69	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACAAACCTTTGAGAGCCTTCT	0.403000										HNSCC(31;0.082)			7	51					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496377	135496377	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:135496377C>G	ENST00000394143.1	+	25	9387	c.9096C>G	c.(9094-9096)atC>atG	p.I3032M	GPR112_ENST00000287534.4_Missense_Mutation_p.I2751M|GPR112_ENST00000370652.1_Missense_Mutation_p.I3032M|GPR112_ENST00000394141.1_Missense_Mutation_p.I2827M|GPR112_ENST00000412101.1_Missense_Mutation_p.I2827M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3032					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAAAGAAAATCTTTGAGCACA	0.398000													35	69					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134262506	134262506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:134262506C>G	ENST00000457545.2	+	11	1220	c.960C>G	c.(958-960)ttC>ttG	p.F320L	AKR1B15_ENST00000423958.1_Missense_Mutation_p.F292L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	320							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TACTCAGCTTCAACAGAAACT	0.413000													3	35					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902382	74902382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:74902382G>A	ENST00000357877.2	+	10	1392	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.D260N	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	415	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCCACTCATGGACAGGCCAGT	0.582000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	60					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5701153	5701153	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:5701153C>G	ENST00000305836.5	-	2	557	c.255G>C	c.(253-255)ttG>ttC	p.L85F	TRIM5_ENST00000396855.3_Missense_Mutation_p.L85F|TRIM5_ENST00000396847.3_Missense_Mutation_p.L85F|TRIM5_ENST00000396853.4_Missense_Mutation_p.L85F|TRIM5_ENST00000380034.3_Missense_Mutation_p.L85F|TRIM5_ENST00000380027.1_Missense_Mutation_p.L85F			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	85					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCTCTGGGCTCAACTTGACCT	0.527000													20	88					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	494265	494265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:494265G>A	ENST00000453061.2	+	2	341	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.D79N|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.D79N|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000509768.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	79					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTTGAGAGATGATTTTGTGTT	0.428000													7	36					0	0	1	0	0
CXCL1	2919	broad.mit.edu	37	4	74735496	74735496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:74735496C>T	ENST00000395761.3	+	2	278	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	71					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCACTGCGCCCAAACCGAAGT	0.657000													27	184					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53890958	53890958	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:53890958G>A	ENST00000288167.3	+	7	626	c.617G>A	c.(616-618)aGa>aAa	p.R206K		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	206					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CTGGGAAACAGATACATGGCT	0.478000													14	137					0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177194099	177194099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:177194099G>A	ENST00000392529.2	+	9	863	c.458G>A	c.(457-459)tGg>tAg	p.W153*	MTX2_ENST00000249442.6_Nonsense_Mutation_p.W163*|MTX2_ENST00000443241.1_Nonsense_Mutation_p.W107*			O75431	MTX2_HUMAN	metaxin 2	163					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CAAAAACAGTGGGAAGTCAAA	0.393000													6	65					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157236727	157236727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:157236727C>T	ENST00000523094.1	-	6	755	c.550G>A	c.(550-552)Ggt>Agt	p.G184S	CLINT1_ENST00000523908.1_Missense_Mutation_p.G202S|CLINT1_ENST00000411809.2_Missense_Mutation_p.G202S|CLINT1_ENST00000530742.1_Missense_Mutation_p.G184S|CLINT1_ENST00000296951.5_Missense_Mutation_p.G184S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	202					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	p.G184C(2)|p.G184S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCAGCTCACCTAATTTATCA	0.398000													15	63					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958823	25958823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:25958823G>A	ENST00000356865.6	-	10	2453	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	781					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGAGTACCTGAAGAGCAGGG	0.562000													8	21					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924349	105924349	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:105924349C>T	ENST00000526793.1	-	3	1226	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	KBTBD3_ENST00000534815.1_Missense_Mutation_p.R277Q|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R356Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	352										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCGAACCGTTCGACAACATTT	0.428000													7	44					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317988	154317988	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:154317988C>G	ENST00000368489.3	+	23	2760	c.2760C>G	c.(2758-2760)ttC>ttG	p.F920L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	906					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGTCCACTTCTGGTTTGGCT	0.483000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	301					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15777662	15777662	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:15777662C>G	ENST00000380701.3	+	19	3064	c.2736C>G	c.(2734-2736)ctC>ctG	p.L912L	CCDC171_ENST00000297641.3_Silent_p.L912L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	912																	TTGCAAAACTCATGGATAAAA	0.373000													12	67					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631851	32631851	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:32631851G>A	ENST00000242310.4	-	1	3816	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1243					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1243W(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCTCCGCCGTTCTTTCCGC	0.453000													15	75					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053324	124053324	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:124053324C>T	ENST00000360013.3	+	9	1750	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	KALRN_ENST00000240874.3_Silent_p.F541F|KALRN_ENST00000460856.1_Silent_p.F541F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	541					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						TCTGCGTCTTCCAGCAGGATG	0.597000													9	24					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62299582	62299582	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:62299582G>C	ENST00000261517.5	-	15	1288	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	VPS13C_ENST00000249837.3_Silent_p.L362L|VPS13C_ENST00000395896.4_Silent_p.L405L|VPS13C_ENST00000395898.3_Silent_p.L362L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	405					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATAACTCTTGAGTAACTGCC	0.328000													6	16					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33646718	33646718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:33646718C>T	ENST00000291416.5	-	1	549	c.316G>A	c.(316-318)Gac>Aac	p.D106N	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	106						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGCGCGCGGTCCGTGAGGCAG	0.672000													6	25					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176943934	176943934	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:176943934C>G	ENST00000507955.1	-	1	536	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	5					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CGTTCGGGTTCCGACTCCTCC	0.662000													13	45					0	0	1	0	0
MRPL27	51264	broad.mit.edu	37	17	48450508	48450508	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48450508C>T	ENST00000442592.3	-	1	60	c.24G>A	c.(22-24)ctG>ctA	p.L8L	MRPL27_ENST00000503633.1_Silent_p.L8L|MRPL27_ENST00000225969.4_Silent_p.L8L			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	8					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			TCCGGGTCCTCAGCGCCAACA	0.607000													8	55					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206785672	206785672	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:206785672G>C	ENST00000271764.2	-	1	232	c.24C>G	c.(22-24)gtC>gtG	p.V8V	EIF2D_ENST00000367114.3_Silent_p.V8V	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	8					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTGGACTTGACCCGAAAGG	0.622000													14	98					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992235	144992235	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:144992235G>A	ENST00000322810.4	-	32	12334	c.12165C>T	c.(12163-12165)atC>atT	p.I4055I	PLEC_ENST00000345136.3_Silent_p.I3918I|PLEC_ENST00000356346.3_Silent_p.I3904I|PLEC_ENST00000354958.2_Silent_p.I3896I|PLEC_ENST00000398774.2_Silent_p.I3886I|PLEC_ENST00000354589.3_Silent_p.I3918I|PLEC_ENST00000357649.2_Silent_p.I3922I|PLEC_ENST00000436759.2_Silent_p.I3945I|PLEC_ENST00000527096.1_Silent_p.I3941I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4055	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACCTCCTCGATGGAGGTCA	0.637000													4	14					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590583	44590583	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44590583G>C	ENST00000421176.3	+	5	1168	c.952G>C	c.(952-954)Gat>Cat	p.D318H	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATTTAGATGTGATACCTGTAG	0.368000													12	92					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49378883	49378883	+	Missense_Mutation	SNP	G	G	A	rs71819374		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:49378883G>A	ENST00000200453.5	+	3	1947	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	560	Interaction with SMARCB1.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCGCTTCTCCGAGAAGGTCAC	0.677000													18	120					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26446172	26446172	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:26446172C>T	ENST00000244519.2	+	5	917	c.674C>T	c.(673-675)tCc>tTc	p.S225F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S183F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S183F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	225	Ig-like V-type 2.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATCAGAAATTCCCTCCTCGGC	0.557000													26	122					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132662	58132662	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:58132662G>C	ENST00000396161.5	+	3	1485	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CGACACCAAAGAGTTCACACT	0.488000													5	182					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73679416	73679416	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:73679416C>T	ENST00000339764.1	+	6	1384	c.633C>T	c.(631-633)atC>atT	p.I211I	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Silent_p.I36I|DNAJB13_ENST00000543947.1_Silent_p.I36I	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	211					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CAGCAGACATCATTTTCATCG	0.547000													13	68					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197844	12197844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:12197844C>T	ENST00000379033.3	+	6	611	c.464C>T	c.(463-465)tCt>tTt	p.S155F	SEC61A2_ENST00000304267.8_Missense_Mutation_p.S177F|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.S177F|SEC61A2_ENST00000379020.4_Missense_Mutation_p.S177F	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	177						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGCTTGGGGTCTGGGATTTCC	0.488000													65	249					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57754893	57754893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:57754893C>T	ENST00000274289.3	-	2	597	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	99	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCAAATCTGTCATCTCGTAAC	0.393000													11	84					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804945	115804945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:115804945G>C	ENST00000369295.2	+	1	1140	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	352					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CTTCCACCGCGAGCTGGTGCC	0.627000													6	22					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002532	20002532	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:20002532C>G	ENST00000589717.1	+	4	568	c.476C>G	c.(475-477)tCa>tGa	p.S159*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S83*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	159					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCAAATTCAAACACATAT	0.299000													7	36					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790382	248790382	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:248790382C>T	ENST00000330803.2	-	1	109	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACTGTTCACCAGAAGCC	0.517000													21	87					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51381788	51381788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:51381788C>G	ENST00000325321.3	+	5	984	c.759C>G	c.(757-759)atC>atG	p.I253M	KLK2_ENST00000391810.2_Missense_Mutation_p.I151M|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	253	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGAAGTGGATCAAGGACACCA	0.547000			T	ETV4	prostate								19	310					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712159	32712159	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:32712159C>G	ENST00000265074.8	+	1	620	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V	NPR3_ENST00000415167.2_Missense_Mutation_p.L93V|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	93					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGCGGCTTCTGCCGCCGGG	0.677000													11	74					0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50088129	50088129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:50088129G>A	ENST00000305386.2	+	1	641	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	48					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACCCGCGCGGGGTGCCGGC	0.726000													6	19					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548067	4548067	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4548067G>C	ENST00000586582.1	-	14	1883	c.1573C>G	c.(1573-1575)Cgc>Ggc	p.R525G	SEMA6B_ENST00000586965.1_Missense_Mutation_p.R525G|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R525G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	525					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCAGCGAGCCACAGGC	0.682000													3	7					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308953	74308953	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:74308953C>T	ENST00000446526.3	-	9	1442	c.997G>A	c.(997-999)Gag>Aag	p.E333K	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.E230K	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	304					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGACCTCGTCTACGGAG	0.453000													21	84					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131395129	131395129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:131395129C>G	ENST00000358161.5	+	55	7316	c.7203C>G	c.(7201-7203)atC>atG	p.I2401M	SPTAN1_ENST00000372731.4_Missense_Mutation_p.I2396M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.I2401M			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2396	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTTTCATGATCAGCCGCGAAA	0.592000													25	121					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	864672	864672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:864672G>A	ENST00000323510.4	-	13	1416	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	BRD9_ENST00000483173.1_Missense_Mutation_p.R516C|BRD9_ENST00000388890.4_Missense_Mutation_p.R453C|BRD9_ENST00000467963.1_Missense_Mutation_p.R569C			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	569							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACACTCAGGCGAGAAGGGCTT	0.587000													11	44					0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	212002666	212002666	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:212002666C>G	ENST00000366997.4	-	2	200		c.e2-1		LPGAT1_ENST00000366996.1_Splice_Site|LPGAT1_ENST00000488600.1_Intron	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1						phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TCCTGTCTTTCTGGGGTGAAA	0.433000													29	100					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72193586	72193586	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:72193586G>C	ENST00000356056.5	-	23	3568	c.3096C>G	c.(3094-3096)gtC>gtG	p.V1032V	MYO9A_ENST00000424560.1_Silent_p.V1032V|MYO9A_ENST00000566885.1_Silent_p.V652V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.V1032V|MYO9A_ENST00000444904.1_Silent_p.V1013V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1032	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACACAGCAAGACCCTGAACC	0.453000													20	31					0	0	1	0	0
CENPM	79019	broad.mit.edu	37	22	42341930	42341930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42341930G>A	ENST00000402338.1	-	2	356	c.115C>T	c.(115-117)Cac>Tac	p.H39Y	CENPM_ENST00000215980.5_Missense_Mutation_p.H73Y|CENPM_ENST00000407253.3_Missense_Mutation_p.H73Y|CENPM_ENST00000404067.1_Missense_Mutation_p.H39Y|CENPM_ENST00000402420.1_Missense_Mutation_p.H39Y			Q9NSP4	CENPM_HUMAN	centromere protein M	73					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						TATTTGCTGTGAAGATTAACC	0.537000													5	36					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609722	96609722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96609722G>C	ENST00000371321.3	+	8	1280	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	400					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGACAACAAAGAATTTCCCAA	0.403000													31	114					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39826098	39826098	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:39826098C>T	ENST00000216160.6	+	11	1448	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	462					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GAGGCCTCTTCCGCTCCCGGC	0.642000													16	101					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43483629	43483629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43483629G>A	ENST00000372422.2	-	2	468	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	YIPF3_ENST00000506469.1_Nonsense_Mutation_p.Q102*	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	96					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGCTTACCTGATCTGCCACC	0.532000													20	98					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62041913	62041913	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62041913G>T	ENST00000435607.1	-	9	1443	c.1367C>A	c.(1366-1368)gCc>gAc	p.A456D	SCN4A_ENST00000578147.1_Missense_Mutation_p.A456D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	456					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCCAGGGTGGCCTCATTCTG	0.522000													12	30					5.50884e-06	5.66018e-06	1	1	0
CREB3L3	84699	broad.mit.edu	37	19	4164557	4164557	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4164557G>A	ENST00000078445.2	+	5	781	c.634G>A	c.(634-636)Gag>Aag	p.E212K	CREB3L3_ENST00000595923.1_Missense_Mutation_p.E211K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E152K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E210K|CREB3L3_ENST00000602147.1_Missense_Mutation_p.E212K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	212					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACTGTCAGGAGCTGGTGCT	0.612000													29	84					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153665646	153665646	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697000													9	12					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42998010	42998010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998010C>T	ENST00000252115.5	-	3	607	c.503G>A	c.(502-504)aGa>aAa	p.R168K	POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Missense_Mutation_p.R12K	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	168					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						AACATTGATTCTCATTCCGGC	0.502000													19	98					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61524018	61524018	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:61524018A>T	ENST00000398571.2	-	30	4247	c.4171T>A	c.(4171-4173)Tct>Act	p.S1391T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1391					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCCGCCTAGACAGATTTTCT	0.388000													19	104					0	0	1	0	0
TPM4	7171	broad.mit.edu	37	19	16192732	16192732	+	Missense_Mutation	SNP	G	G	C	rs116258660	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:16192732G>C	ENST00000300933.4	+	2	402	c.142G>C	c.(142-144)Gat>Cat	p.D48H	TPM4_ENST00000538887.1_Missense_Mutation_p.D84H|TPM4_ENST00000344824.6_Missense_Mutation_p.D84H	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	48					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GGCTGAAGGTGATGTGGCCGC	0.617000			T	ALK	ALCL								16	45					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320655	52320655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:52320655C>A	ENST00000356297.4	-	17	3629	c.3529G>T	c.(3529-3531)Gat>Tat	p.D1177Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1177Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1177					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCTCTGAATCTTTAATTTCA	0.353000													10	42					0.000442599	0.000449327	1	1	0
OR52I2	143502	broad.mit.edu	37	11	4608662	4608662	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:4608662C>G	ENST00000312614.4	+	1	642	c.620C>G	c.(619-621)tCc>tGc	p.S207C		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGTCCACTCCTACTGTGAG	0.502000													35	152					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33633651	33633651	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33633651C>A	ENST00000374316.5	+	15	2509	c.1449C>A	c.(1447-1449)gtC>gtA	p.V483V	ITPR3_ENST00000605930.1_Silent_p.V483V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	483					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGTTCTTTGTCAGCGATGTCC	0.562000													6	53					5.4927e-09	5.70631e-09	1	1	0
GNAS	2778	broad.mit.edu	37	20	57430097	57430097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:57430097C>T	ENST00000371100.4	+	1	2329	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q593*|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q593*|GNAS_ENST00000306120.3_Silent_p.F529F|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGGTTTCAGCATCGGCG	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			9	34					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216299457	216299457	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:216299457C>A	ENST00000354785.4	-	2	608	c.239G>T	c.(238-240)gGa>gTa	p.G80V	FN1_ENST00000357867.4_Missense_Mutation_p.G80V|FN1_ENST00000345488.5_Missense_Mutation_p.G80V|FN1_ENST00000357009.2_Missense_Mutation_p.G80V|FN1_ENST00000356005.4_Missense_Mutation_p.G80V|FN1_ENST00000336916.4_Missense_Mutation_p.G80V|FN1_ENST00000323926.6_Missense_Mutation_p.G80V|FN1_ENST00000346544.3_Missense_Mutation_p.G80V|FN1_ENST00000446046.1_Missense_Mutation_p.G80V|FN1_ENST00000426059.1_Missense_Mutation_p.G80V|FN1_ENST00000443816.1_Missense_Mutation_p.G80V|FN1_ENST00000432072.2_Missense_Mutation_p.G80V|FN1_ENST00000421182.1_Missense_Mutation_p.G80V|FN1_ENST00000359671.1_Missense_Mutation_p.G80V			P02751	FINC_HUMAN	fibronectin 1	80	Fibrin- and heparin-binding 1.|Fibronectin type-I 1.				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)	TCGGCTTCCTCCATAACAAGT	0.403000													21	99					0.000295444	0.000300587	1	1	0
STOX1	219736	broad.mit.edu	37	10	70646267	70646267	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:70646267C>T	ENST00000298596.6	+	3	2798	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.N795N|STOX1_ENST00000399169.4_Silent_p.N905N	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	905						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AACTTTTCAACACTTCACATA	0.433000													13	72					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345435	119345435	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:119345435C>G	ENST00000338891.7	-	2	1146	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	FAM184A_ENST00000368475.4_Missense_Mutation_p.E115Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.E115Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.E235Q|FAM184A_ENST00000522284.1_Missense_Mutation_p.E115Q|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	235										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTAGCTCCTCAAGCATTTTG	0.413000													11	43					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140048500	140048500	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140048500C>G	ENST00000358337.5	+	5	822	c.585C>G	c.(583-585)ttC>ttG	p.F195L		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	195					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCATCTTCAACATTAAGA	0.527000													12	55					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118370550	118370550	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:118370550G>T	ENST00000534358.1	+	24	6103	c.6079_splice	c.e24-1	p.G2027_splice	KMT2A_ENST00000354520.4_Splice_Site_p.G1986_splice|KMT2A_ENST00000389506.5_Splice_Site_p.G2024_splice	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCTTGGTCAGGGTCTATGACA	0.418000													24	53					7.92952e-12	8.31177e-12	1	1	0
FAM83C	128876	broad.mit.edu	37	20	33879981	33879981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33879981C>T	ENST00000374408.3	-	1	223	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	43										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGAGCCGCCTCGCTGTGCCGC	0.741000													8	33					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652522	45652522	+	RNA	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:45652522G>C	ENST00000427229.2	+	0	2036																											TGTAAAGACTGAATGCGTGGC	0.373000													4	18					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8737229	8737229	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:8737229G>C	ENST00000534127.1	-	9	2151	c.1766C>G	c.(1765-1767)tCa>tGa	p.S589*	ST5_ENST00000526757.1_Nonsense_Mutation_p.S169*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S589*|ST5_ENST00000526099.1_Nonsense_Mutation_p.S102*|ST5_ENST00000530991.1_Nonsense_Mutation_p.S61*|ST5_ENST00000357665.1_Nonsense_Mutation_p.S589*|ST5_ENST00000530438.1_Nonsense_Mutation_p.S169*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	589					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCTGGAGGGTGAGGACGGCAG	0.642000													17	81					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103906776	103906776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103906776C>G	ENST00000278070.2	+	9	4066	c.4027C>G	c.(4027-4029)Ccg>Gcg	p.P1343A	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.P310A|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCTGCCCCTCCGCCCCCATG	0.617000													8	45					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1233785	1233785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:1233785G>A	ENST00000354700.5	-	12	1082	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	ACAP3_ENST00000353662.3_Nonsense_Mutation_p.Q252*	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	294	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TGGCTGTTCTGAATGGAGAAC	0.687000													14	78					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21960908	21960908	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:21960908C>G	ENST00000405508.1	+	8	1409	c.1133C>G	c.(1132-1134)tCt>tGt	p.S378C	TOX4_ENST00000448790.2_Missense_Mutation_p.S355C|TOX4_ENST00000262709.3_Missense_Mutation_p.S378C			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	378						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTGCCCTCTTCTATTACTATG	0.498000													30	100					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139115958	139115958	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:139115958C>T	ENST00000358701.5	-	4	516	c.478_splice	c.e4-1	p.G160_splice		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	160	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.G160E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCGGTCAGGTCCTGCCGGAAG	0.657000													18	63					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832133	61832133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:61832133G>A	ENST00000280772.1	-	37	8697	c.8506C>T	c.(8506-8508)Cat>Tat	p.H2836Y	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2836					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGTTATATGACATGCCAAG	0.408000													21	79					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418406	44418406	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44418406C>T	ENST00000269973.5	-	10	2272	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.G394G	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	394					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AGAAGCCTTTCCCACACTCCT	0.512000													16	99					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574914	41574914	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:41574914C>G	ENST00000263253.7	+	31	8418	c.7199C>G	c.(7198-7200)tCa>tGa	p.S2400*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2400					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACCGATAACTCAGACTTGAAT	0.448000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				21	59					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76871137	76871137	+	Missense_Mutation	SNP	G	G	C	rs151147207	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:76871137G>C	ENST00000285871.4	+	4	496	c.369G>C	c.(367-369)atG>atC	p.M123I	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	123										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTCCAAAATGAGAGAACAAC	0.398000													12	81					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86921187	86921187	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86921187G>A	ENST00000370565.4	+	14	2971	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	937					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGACAAGAAAGAGAATGGAAC	0.328000													9	57					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177928058	177928058	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:177928058G>C	ENST00000308284.6	-	9	1140	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.Q352E|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	351					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTGCAGCTCTGAGCTGCTTTC	0.478000													8	28					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72226609	72226609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:72226609C>G	ENST00000582365.1	+	2	142	c.76C>G	c.(76-78)Cgc>Ggc	p.R26G	CNDP1_ENST00000358821.3_Missense_Mutation_p.R69G|CNDP1_ENST00000585136.1_3'UTR			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	69					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.R69S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCCTGTGCCTCGCTTCAGACA	0.622000													22	86					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221755	5221755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:5221755C>T	ENST00000321255.1	-	1	175	c.176G>A	c.(175-177)tGg>tAg	p.W59*		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTCAGTCCATATCACATG	0.532000													19	106					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636262	20636262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:20636262C>G	ENST00000525748.1	+	6	1296	c.1023C>G	c.(1021-1023)atC>atG	p.I341M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	341					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAATACAGATCAAGAACTCGA	0.408000													26	93					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464591	16464591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16464591G>A	ENST00000358432.5	-	5	1223	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	357	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ATGTCCTCGCGGCCCCCGCTG	0.677000													7	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152688445	152688445	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152688445C>G	ENST00000367255.5	-	62	10481	c.9880G>C	c.(9880-9882)Gac>Cac	p.D3294H	SYNE1_ENST00000423061.1_Missense_Mutation_p.D3301H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3333H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3294H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3301H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3294					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCATCCAGTCTTGTAATTCT	0.468000										HNSCC(10;0.0054)			18	82					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118945719	118945719	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:118945719C>T	ENST00000467604.1	-	4	814	c.423G>A	c.(421-423)ctG>ctA	p.L141L	B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.L141L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Silent_p.L141L|B4GALT4_ENST00000393765.2_Silent_p.L141L			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	141					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GCAGATGTTCCAGCAGGTACA	0.587000													3	30					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855677	12855677	+	Silent	SNP	C	C	T	rs142654121		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:12855677C>T	ENST00000332296.7	+	4	1060	c.957C>T	c.(955-957)ctC>ctT	p.L319L	PRAMEF1_ENST00000400814.3_Silent_p.L74L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	319										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		ACCCAAGCCTCGGTTACCTAA	0.493000													36	102					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57134092	57134092	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:57134092G>C	ENST00000328070.6	+	3	1671	c.1437G>C	c.(1435-1437)acG>acC	p.T479T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCGCAACACGAACCTGACGC	0.642000													21	58					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715188	165715188	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:165715188C>G	ENST00000543069.1	-	2	892	c.311G>C	c.(310-312)gGa>gCa	p.G104A	C6orf118_ENST00000230301.8_Missense_Mutation_p.G208A			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	208										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCTGGTGGCTCCGGCCAGGTA	0.602000													15	73					0	0	1	0	0
URI1	8725	broad.mit.edu	37	19	30498456	30498456	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:30498456G>A	ENST00000392271.1	+	7	894	c.369G>A	c.(367-369)gtG>gtA	p.V123V	URI1_ENST00000360605.4_Silent_p.V181V|URI1_ENST00000542441.2_Silent_p.V199V|URI1_ENST00000574176.1_3'UTR|URI1_ENST00000312051.6_Silent_p.V159V	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	199					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CAAATGATGTGAAATCCAAGG	0.373000													8	36					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321783	106321783	+	RNA	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:106321783C>A	ENST00000390559.2	-	0	450																											TGCTTCCCCTCGCGCAGCCAG	0.652000													13	37					2.32078e-09	2.4191e-09	1	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41770636	41770636	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41770636G>A	ENST00000392006.3	+	1	401	c.228G>A	c.(226-228)gcG>gcA	p.A76A	HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000602130.1_Silent_p.A76A	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	76	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGGGACCGCGCAGCCACCGC	0.771000													5	15					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39726123	39726123	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39726123C>T	ENST00000246662.4	-	3	935	c.870G>A	c.(868-870)aaG>aaA	p.K290K	KRT9_ENST00000588431.1_Silent_p.K57K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	290	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTTATGATTCTTCTTGAGGG	0.542000													24	127					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68600009	68600009	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:68600009G>A	ENST00000423218.2	-	27	3298	c.3203C>T	c.(3202-3204)tCc>tTc	p.S1068F	ITGA11_ENST00000315757.7_Missense_Mutation_p.S1067F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1067					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCAGTTGATGGAGACGACATC	0.527000													3	25					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045805	167045805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:167045805G>A	ENST00000392766.2	-	11	1127	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q234*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q263*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q263*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	263						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AACACTTCCTGAAAGGACTGT	0.368000													36	124					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976945	29976945	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29976945C>T	ENST00000376797.3	-	0	734				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GAGCTACTCTCAGGCTGCAAG	0.547000													13	91					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115171278	115171278	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:115171278G>A	ENST00000398805.3	+	4	599	c.372G>A	c.(370-372)gtG>gtA	p.V124V	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000262542.7_Silent_p.V4V	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	124						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TGATGAACGTGAACACCAGAG	0.418000													28	59					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708037	29708037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:29708037G>C	ENST00000471961.1	+	5	2644	c.1596G>C	c.(1594-1596)ttG>ttC	p.L532F	GAS2L1_ENST00000407854.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000407647.2_Missense_Mutation_p.L532F|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000403764.1_Missense_Mutation_p.L532F|GAS2L1_ENST00000360113.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	0					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCGGGCCCTTGAGGCTGTTGC	0.667000													57	270					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61828074	61828074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:61828074G>C	ENST00000370339.3	-	5	2007	c.1666C>G	c.(1666-1668)Cga>Gga	p.R556G	YTHDF1_ENST00000370334.4_Missense_Mutation_p.R49G|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R506G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	556										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGTTTGTTTCGACTCTGCCGT	0.443000													12	64					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													13	39					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675970	102675970	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:102675970C>G	ENST00000335263.5	+	3	1543	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	WDR20_ENST00000556807.1_Missense_Mutation_p.S427C|WDR20_ENST00000556511.2_Missense_Mutation_p.S427C|WDR20_ENST00000545563.1_Missense_Mutation_p.S315C|WDR20_ENST00000499851.2_Missense_Mutation_p.S231C|WDR20_ENST00000454394.2_Missense_Mutation_p.S519C|WDR20_ENST00000424963.2_Missense_Mutation_p.S364C|WDR20_ENST00000342702.3_Missense_Mutation_p.S488C|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	488										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GGACACATTTCTAGCAAGAGC	0.478000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	95					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842303	123842303	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:123842303C>T	ENST00000369005.1	+	4	628	c.288C>T	c.(286-288)ccC>ccT	p.P96P	TACC2_ENST00000515603.1_Silent_p.P96P|TACC2_ENST00000334433.3_Silent_p.P96P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.P96P|TACC2_ENST00000453444.2_Silent_p.P96P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	96						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTTGCTGCCCAGCCCACCAC	0.642000													29	85					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48396174	48396174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:48396174G>A	ENST00000380006.2	-	1	1619	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	SIAH1_ENST00000394725.2_Nonsense_Mutation_p.Q56*|SIAH1_ENST00000356721.3_Nonsense_Mutation_p.Q87*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	56					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TGGCCACTCTGACATTGAAGA	0.507000													8	61					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696166	48696166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48696166G>A	ENST00000352832.5	+	31	5848	c.5476G>A	c.(5476-5478)Gag>Aag	p.E1826K	CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1860K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1835K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1815K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1867K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1815K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1826K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1803K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1808K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1842K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1826K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1819K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1849K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1842K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1860K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1853K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1837K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1860K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1837K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1826K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1860K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1860					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGCAACAAGGAGGCCAAGGA	0.622000													11	52					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100570746	100570746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:100570746C>T	ENST00000471714.1	-	15	1454	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	ABI3BP_ENST00000495063.1_Missense_Mutation_p.E449K|ABI3BP_ENST00000284322.5_Missense_Mutation_p.E400K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	412	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATCTCAGGCTCATCTGATGTT	0.348000													3	7					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91479549	91479549	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:91479549C>G	ENST00000394275.2	+	7	1075	c.240C>G	c.(238-240)ctC>ctG	p.L80L	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Silent_p.L95L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	95					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCAAAGCACTCTACCGGCGGA	0.572000													22	94					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647000													13	39					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151805335	151805335	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:151805335G>C	ENST00000434507.1	+	8	1362	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	GALNT11_ENST00000430044.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000320311.2_Missense_Mutation_p.E309Q|GALNT11_ENST00000452146.2_Missense_Mutation_p.E228Q|GALNT11_ENST00000422997.2_3'UTR			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	309						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCCCCTTTCTGAGCTAGGACG	0.522000													21	97					0	0	1	0	0
COQ10B	80219	broad.mit.edu	37	2	198318314	198318314	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:198318314G>A	ENST00000263960.2	+	1	168	c.30G>A	c.(28-30)ttG>ttA	p.L10L	COQ10B_ENST00000409398.1_Silent_p.L10L	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	10						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATACGGCCTTGAGAAGGGTAG	0.682000													10	82					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997568	40997568	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:40997568C>G	ENST00000253799.3	+	1	952	c.925C>G	c.(925-927)Cag>Gag	p.Q309E	AOC2_ENST00000452774.2_Missense_Mutation_p.Q309E	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	309					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCCCCTCTTCAGTTCTCGCC	0.562000													21	65					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719228	140719228	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140719228G>A	ENST00000394576.2	+	1	690	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCTGCGTGAAGGTCCTGG	0.592000													4	100					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231384	21231384	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:21231384C>T	ENST00000233242.1	-	26	8483	c.8356G>A	c.(8356-8358)Gaa>Aaa	p.E2786K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2786					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATACCTGCTTCGTTTGCTGAG	0.403000													22	112					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919096	86919096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86919096G>C	ENST00000370565.4	+	13	2362	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	734					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGGCAGAAATGAGGAGGAGCG	0.458000													10	70					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824428	74824428	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:74824428C>T	ENST00000256362.4	+	2	1183	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	314					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCCCGCTTCTCCGCCAAGC	0.637000													14	126					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912244	53912244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:53912244C>T	ENST00000396408.3	+	4	1553	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AGCCGGACGTCATCCCTTACA	0.378000													18	131					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6787533	6787533	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:6787533G>A	ENST00000396795.1	-	5	943	c.446C>T	c.(445-447)tCa>tTa	p.S149L	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.S149L|ZNF384_ENST00000396799.2_Missense_Mutation_p.S149L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S133L|ZNF384_ENST00000396801.3_Missense_Mutation_p.S149L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGAAGAGCTGAGACAATCAT	0.577000			T	"""EWSR1, TAF15 """	ALL								10	25					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150862	173150862	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:173150862G>C	ENST00000506823.1	+	3	851	c.194G>C	c.(193-195)aGa>aCa	p.R65T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R48T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	65						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GATGGTTTGAGAAGAAAGGAC	0.448000													7	24					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74717448	74717448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:74717448C>T	ENST00000294064.4	+	3	2224	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	NEU3_ENST00000545272.1_Missense_Mutation_p.R324C|NEU3_ENST00000531509.1_Missense_Mutation_p.R433C|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000544263.1_Missense_Mutation_p.R400C|NEU3_ENST00000532963.1_3'UTR	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	433								p.R433S(2)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GATTGCCTTCCGCCTGTTTAC	0.537000													28	165					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323297	152323297	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152323297G>A	ENST00000388718.5	-	3	7037	c.6965C>T	c.(6964-6966)tCt>tTt	p.S2322F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2322							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCTACTAGATCTGGAACC	0.453000													44	170					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46842734	46842734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:46842734C>A	ENST00000529230.1	-	2	95	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	CKAP5_ENST00000415402.1_Nonsense_Mutation_p.E17*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.E17*|CKAP5_ENST00000354558.3_Nonsense_Mutation_p.E17*			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	17					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACCTTGTGTTCACATTTCTGA	0.383000													30	119					3.76114e-14	3.97812e-14	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35763098	35763098	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:35763098G>C	ENST00000187397.4	+	14	1453	c.995_splice	c.e14-1	p.G333_splice	ARPP21_ENST00000417925.1_Splice_Site_p.G299_splice|ARPP21_ENST00000444190.1_Splice_Site_p.G279_splice|ARPP21_ENST00000337271.5_Splice_Site_p.G279_splice|ARPP21_ENST00000458225.1_Splice_Site_p.G299_splice	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	333						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTACTCCAGGGGCAACAGAGA	0.527000													5	23					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124008654	124008654	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:124008654G>A	ENST00000369005.1	+	21	8983	c.8643G>A	c.(8641-8643)gcG>gcA	p.A2881A	TACC2_ENST00000260733.3_Silent_p.A959A|TACC2_ENST00000368999.1_Silent_p.A971A|TACC2_ENST00000369000.1_Silent_p.A504A|TACC2_ENST00000515603.1_Silent_p.A2759A|TACC2_ENST00000334433.3_Silent_p.A2881A|TACC2_ENST00000513429.1_Silent_p.A1027A|TACC2_ENST00000369004.3_Silent_p.A941A|TACC2_ENST00000358010.1_Silent_p.A1027A|TACC2_ENST00000515273.1_Silent_p.A2808A|TACC2_ENST00000360561.3_Silent_p.A929A|TACC2_ENST00000453444.2_Silent_p.A2808A|TACC2_ENST00000369001.1_Silent_p.A508A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2881						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGTGCACGCGGAGGAGAAAC	0.607000													6	25					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175431795	175431795	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:175431795C>T	ENST00000409891.1	-	7	1661	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Intron|WIPF1_ENST00000272746.5_Intron|WIPF1_ENST00000392547.2_Intron|WIPF1_ENST00000392546.2_Intron|AC018890.6_ENST00000442996.1_RNA			O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	0					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CAGAAATACTCACTCCGGCTT	0.473000													5	27					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	493173	493173	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:493173G>A	ENST00000453061.2	+	1	155	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V17M|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.V17M|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000509768.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	17					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCGATCGAGGTGCTAGGGAT	0.667000													5	20					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190873403	190873403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:190873403G>C	ENST00000226798.4	+	3	442	c.220G>C	c.(220-222)Gac>Cac	p.D74H	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	74					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ACATGCACTCGACAATGGTCT	0.398000													32	111					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45726490	45726490	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:45726490G>C	ENST00000216214.3	+	6	1363	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	FAM118A_ENST00000405548.3_5'UTR|FAM118A_ENST00000441876.2_Missense_Mutation_p.E177Q	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	177						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTAGGTCCTTGAATGGGCAAG	0.468000													14	34					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44598318	44598318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:44598318C>G	ENST00000322927.2	-	3	314	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAGCTGCTCTCAGATACCTCC	0.602000											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	112					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103173691	103173691	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:103173691C>G	ENST00000262241.6	+	5	728	c.502C>G	c.(502-504)Ctt>Gtt	p.L168V	RCOR1_ENST00000570597.1_Missense_Mutation_p.L165V	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	165	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TTTGTAGGCTCTTGGGATGCT	0.343000													13	58					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43201677	43201677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:43201677G>A	ENST00000539749.1	-	3	603	c.413C>T	c.(412-414)tCg>tTg	p.S138L	CLDN19_ENST00000372539.3_Silent_p.F166F|CLDN19_ENST00000296387.1_Silent_p.F166F	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	138					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCAGCCCACGAACAGGGCTG	0.647000													3	5					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60531232	60531232	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:60531232G>T	ENST00000405633.3	+	2	105	c.26G>T	c.(25-27)gGa>gTa	p.G9V	MS4A15_ENST00000528170.1_Missense_Mutation_p.G9V|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	9						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GCCAGCAATGGAGTGTTTGTT	0.527000													35	146					6.97489e-18	7.41082e-18	1	1	0
ATG2B	55102	broad.mit.edu	37	14	96775928	96775928	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:96775928C>T	ENST00000359933.4	-	29	5058	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1389										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCACTGGAATCTACCTATAGC	0.353000													11	31					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765274	57765274	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:57765274C>G	ENST00000535550.1	+	4	1184	c.688C>G	c.(688-690)Cag>Gag	p.Q230E	ZNF805_ENST00000414468.2_Missense_Mutation_p.Q363E|ZNF805_ENST00000354309.4_Missense_Mutation_p.Q230E	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GTGGCACCAGCAGACTCATAC	0.507000													4	69					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89117810	89117810	+	RNA	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:89117810C>A	ENST00000452230.1	-	0	172																											GGATTCAAATCCAAACAAGGA	0.507000													5	24					0.184627	0.185023	1	1	0
MKX	283078	broad.mit.edu	37	10	28023669	28023669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:28023669G>T	ENST00000375790.5	-	5	986	c.554C>A	c.(553-555)cCa>cAa	p.P185Q	MKX_ENST00000419761.1_Missense_Mutation_p.P185Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	185					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						ATGGTGAACTGGGGTATTATA	0.498000													12	62					1.52009e-12	1.59695e-12	1	1	0
BPTF	2186	broad.mit.edu	37	17	65907895	65907895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:65907895C>T	ENST00000321892.4	+	13	4334	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q1299*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q1425*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q1286*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1425					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGTGTCTATTCAGGATAGCAG	0.403000													13	85					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76568947	76568947	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76568947C>T	ENST00000389840.5	-	3	499	c.375G>A	c.(373-375)gaG>gaA	p.E125E	DNAH17_ENST00000585328.1_Silent_p.E125E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCCATGTTCTCACTTTGGT	0.527000													7	32					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1995860	1995860	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:1995860C>T	ENST00000268661.7	-	8	1117	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	341					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGACCCGCTTCTTGGTACCAG	0.622000													16	77					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100144783	100144783	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:100144783G>A	ENST00000370575.4	-	15	1644	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	532							oxidoreductase activity	p.F532F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGGGGCGGGCGAAGTAGAGCT	0.612000													8	47					0	0	1	0	0
ARMC10	83787	broad.mit.edu	37	7	102727178	102727178	+	Silent	SNP	G	G	C	rs150220068	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:102727178G>C	ENST00000323716.3	+	4	887	c.495G>C	c.(493-495)ctG>ctC	p.L165L	ARMC10_ENST00000425331.1_Silent_p.L130L|ARMC10_ENST00000428183.2_Silent_p.L165L|ARMC10_ENST00000541300.1_Silent_p.L130L|ARMC10_ENST00000454559.1_Silent_p.L130L|ARMC10_ENST00000441711.2_Silent_p.L130L	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	165					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	p.L165L(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAAATAACCTGAGTGTGAATG	0.289000													3	98					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	628881	628881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:628881C>T	ENST00000321878.5	+	6	1325	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	PIGQ_ENST00000409527.2_Missense_Mutation_p.S389L|PIGQ_ENST00000026218.5_Missense_Mutation_p.S389L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	389	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCCCTCCTCTCGGACATTATC	0.647000													7	66					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111976099	111976099	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:111976099C>G	ENST00000374566.3	-	17	2151		c.e17-1			NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGACTCAGTTCTACAAAGCAG	0.517000													23	61					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987714	61987714	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:61987714G>A	ENST00000409186.1	-	5	2623	c.518C>T	c.(517-519)tCt>tTt	p.S173F	PCDH20_ENST00000409204.4_Missense_Mutation_p.S173F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	146	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACAAGAGTCAGAAGGAGAGGA	0.547000													13	64					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131323	202131323	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202131323C>G	ENST00000358485.4	+	2	487	c.291C>G	c.(289-291)atC>atG	p.I97M	CASP8_ENST00000323492.7_Missense_Mutation_p.I38M|CASP8_ENST00000264274.9_Missense_Mutation_p.I38M|CASP8_ENST00000264275.5_Missense_Mutation_p.I38M|CASP8_ENST00000432109.2_Missense_Mutation_p.I38M|CASP8_ENST00000392266.3_Missense_Mutation_p.I38M|CASP8_ENST00000392258.3_Missense_Mutation_p.I38M|CASP8_ENST00000392259.2_Missense_Mutation_p.I38M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	38					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGAACCCATCAAGGATGCCT	0.458000										HNSCC(4;0.00038)			16	42					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58018668	58018668	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:58018668C>A	ENST00000290871.5	+	4	616	c.579C>A	c.(577-579)ttC>ttA	p.F193L	TEPP_ENST00000441824.2_Missense_Mutation_p.F193L|TEPP_ENST00000569996.1_3'UTR	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	193						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GGTCCCACTTCGTGTCCTCGG	0.672000													6	9					0.0381472	0.0383936	1	1	0
RYR1	6261	broad.mit.edu	37	19	38983224	38983224	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:38983224G>C	ENST00000355481.4	+	38	6353	c.6222G>C	c.(6220-6222)aaG>aaC	p.K2074N	RYR1_ENST00000360985.3_Missense_Mutation_p.K2074N|RYR1_ENST00000359596.3_Missense_Mutation_p.K2074N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2074	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTGGTGAAGAAGAAGGAAG	0.602000													19	35					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041056	42041056	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42041056C>T	ENST00000219905.7	+	16	5615	c.5434C>T	c.(5434-5436)Cta>Tta	p.L1812L	MGA_ENST00000389936.4_Silent_p.L1773L|MGA_ENST00000570161.1_Silent_p.L1812L|MGA_ENST00000545763.1_Silent_p.L1603L|MGA_ENST00000566586.1_Silent_p.L1603L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1773						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGTCCAGCTTCTACCTTTGCA	0.448000													14	36					0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80415055	80415055	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:80415055C>G	ENST00000261749.6	+	5	699	c.277C>G	c.(277-279)Cag>Gag	p.Q93E	ZFAND6_ENST00000558494.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559835.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559157.1_Missense_Mutation_p.Q81E|ZFAND6_ENST00000558087.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000559775.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000561060.1_Missense_Mutation_p.Q93E|ZFAND6_ENST00000558688.1_Missense_Mutation_p.Q93E	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	93	Ser-rich.						DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TGTATCAAATCAGTCACTTTT	0.343000													10	48					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117395727	117395727	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:117395727C>G	ENST00000321322.6	-	5	911	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	244	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAGGGCAGCTCCACGGTGTGG	0.687000													5	17					0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70253015	70253015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:70253015C>T	ENST00000216540.4	-	2	499	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	122					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		AGCAGGTGGTCATCACAATGC	0.527000													18	56					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603962	10603962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:10603962G>A	ENST00000334534.5	+	8	1342	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		CACAAACACTGAAAGATTATC	0.433000													11	49					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77602820	77602820	+	Silent	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:77602820G>T	ENST00000534064.1	-	20	2389	c.2355C>A	c.(2353-2355)ccC>ccA	p.P785P	AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Silent_p.P160P|AAMDC_ENST00000527134.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	785					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCATGAGTCGGGGCATAAGGT	0.502000													14	62					1.01871e-10	1.06662e-10	1	1	0
LHX9	56956	broad.mit.edu	37	1	197889215	197889215	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:197889215G>A	ENST00000367390.3	+	3	288	c.261G>A	c.(259-261)ctG>ctA	p.L87L	LHX9_ENST00000337020.2_Silent_p.L96L|LHX9_ENST00000561173.1_Silent_p.L102L|LHX9_ENST00000367391.1_Silent_p.L87L|LHX9_ENST00000367387.4_Silent_p.L96L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	96	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGAGATGCCTGAAGTGCTGTG	0.577000													68	280					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74677016	74677016	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:74677016C>A	ENST00000380494.5	-	17	2305	c.2012G>T	c.(2011-2013)cGa>cTa	p.R671L	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R543L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R517L|COL4A3BP_ENST00000508692.1_5'UTR	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	543					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACGGACACATCGGTTGTTTAG	0.383000													15	87					0.000219431	0.000223495	1	1	0
HLA-B	3106	broad.mit.edu	37	6	31322897	31322897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:31322897C>G	ENST00000412585.2	-	5	1027	c.999G>C	c.(997-999)agG>agC	p.R333S		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AACTCTTCCTCCTACACATCA	0.582000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				20	118					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247486	56247486	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:56247486G>C	ENST00000361673.3	-	4	735	c.522C>G	c.(520-522)ctC>ctG	p.L174L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	174							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCAATGACTGGAGGGAGAGTG	0.478000													45	163					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67235706	67235706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67235706C>T	ENST00000393997.2	+	11	1196	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	ELMO3_ENST00000360833.1_Missense_Mutation_p.S363L|ELMO3_ENST00000477898.1_Missense_Mutation_p.S214L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	327	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGGGAGTCCTCGGGTGCCGGG	0.647000													14	56					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183859730	183859730	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:183859730G>C	ENST00000273783.3	+	8	1296	c.1174G>C	c.(1174-1176)Gac>Cac	p.D392H	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D392H	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	392					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CGTGGTGCTGGACCAGACCTA	0.562000													12	70					0	0	1	0	0
CYB5D2	124936	broad.mit.edu	37	17	4060257	4060257	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4060257C>T	ENST00000301391.3	+	4	1176	c.676C>T	c.(676-678)Cct>Tct	p.P226S	CYB5D2_ENST00000575251.1_Missense_Mutation_p.P114S|CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	226					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CACCGGCCCCCCTAGTGGCCA	0.607000											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	43					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185114665	185114665	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:185114665G>A	ENST00000367504.3	-	5	832	c.93C>T	c.(91-93)atC>atT	p.I31I	TRMT1L_ENST00000367506.5_Silent_p.I187I			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	187						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGAACAAATGATACAATGAT	0.338000													6	64					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354270	98354270	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:98354270C>T	ENST00000264972.5	+	12	1748	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	ZAP70_ENST00000451498.2_Silent_p.I204I|ZAP70_ENST00000442208.1_Silent_p.I385I|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	511	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.I511I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCGAATGCATCAACTTCCGCA	0.637000													44	205					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484168	87484168	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:87484168G>A	ENST00000327946.7	-	11	1884	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	GRID1_ENST00000536331.1_Missense_Mutation_p.S171L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	600						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGCAGAAGCTGACGGCCTGGG	0.547000										Multiple Myeloma(13;0.14)			9	52					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53815204	53815204	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:53815204C>T	ENST00000343017.6	+	1	1616	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	SNX18_ENST00000326277.3_Silent_p.L474L|SNX18_ENST00000381410.4_Silent_p.L474L	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	474	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCCGCGGCCTCAGCCAGGCCT	0.627000													11	52					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575324	19575324	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:19575324G>A	ENST00000328405.2	+	16	3323	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1019	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGATTCTACGTTGACGCCTC	0.458000													35	180					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76420119	76420119	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76420119C>T	ENST00000389840.5	-	81	13450	c.13326G>A	c.(13324-13326)aaG>aaA	p.K4442K	PGS1_ENST00000262764.6_Intron|DNAH17_ENST00000585328.1_Silent_p.K4414K|DNAH17_ENST00000586052.1_5'UTR|PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAGATGTTCTTGGTCTCCA	0.552000													29	126					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100850020	100850020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100850020C>T	ENST00000341469.2	-	6	1070	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.R135H|TRIM14_ENST00000375098.3_Missense_Mutation_p.R354H|TRIM14_ENST00000342043.3_Missense_Mutation_p.R354H	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	354	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCAGCCCAggcgggcggcggc	0.756000													4	19					0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128840276	128840276	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:128840276G>C	ENST00000315150.5	-	1	357	c.57C>G	c.(55-57)ttC>ttG	p.F19L	RAB43_ENST00000393308.1_Missense_Mutation_p.F19L|RAB43_ENST00000393304.1_Missense_Mutation_p.F19L|RAB43_ENST00000476465.1_Missense_Mutation_p.F19L|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393307.1_Missense_Mutation_p.F19L|RAB43_ENST00000393305.1_Missense_Mutation_p.F19L	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	19					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCAGCTTGAACAGGAAAT	0.692000													3	30					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719898	95719898	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:95719898C>T	ENST00000480546.1	-	0	1399					NR_002319.2																						GGAGCCTGCTCGCTGAGAGAA	0.502000													15	39					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109771177	109771177	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:109771177C>G	ENST00000368952.4	-	9	1650	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	MICAL1_ENST00000358577.3_Missense_Mutation_p.E349Q|MICAL1_ENST00000358807.3_Missense_Mutation_p.E435Q			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	435					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTTACCGCTCAGCCAACACC	0.607000													58	338					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77883349	77883349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:77883349G>A	ENST00000344720.5	+	8	1956	c.930G>A	c.(928-930)atG>atA	p.M310I	AK5_ENST00000354567.2_Missense_Mutation_p.M336I	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	336					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATCCTTCGATGATATTGGACA	0.333000													6	29					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423398	33423398	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33423398C>T	ENST00000395064.2	+	2	789	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATTCGCTCTTCGCCTTTCCAG	0.542000													27	130					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31202838	31202838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:31202838C>T	ENST00000362065.4	+	4	1688	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	FAN1_ENST00000565466.1_Missense_Mutation_p.S466F|FAN1_ENST00000561594.1_Missense_Mutation_p.S466F|FAN1_ENST00000561607.1_Missense_Mutation_p.S466F	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	466					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAAGAACTCTCTGAAGTGCTT	0.363000								Direct reversal of damage					11	74					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46574374	46574374	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:46574374G>C	ENST00000395905.3	-	5	908	c.516C>G	c.(514-516)ctC>ctG	p.L172L	LRRC2_ENST00000296144.3_Silent_p.L172L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	172										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AACCCACATTGAGTTCTTTCA	0.363000													18	72					0	0	1	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950359	123950359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:123950359C>T	ENST00000526639.2	+	2	851	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.S91L|SNRNP35_ENST00000412157.2_Missense_Mutation_p.S96L	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	91	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACAGGTTTTTCAAAGGGCTAC	0.498000													17	66					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087566	55087566	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:55087566C>T	ENST00000251377.3	+	7	1378	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	LILRA2_ENST00000391738.3_Silent_p.L415L|LILRA2_ENST00000391737.1_Silent_p.L403L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.L415L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCTGGAGCTCGTGGTCTCAG	0.612000													9	132					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27702428	27702428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:27702428C>T	ENST00000260570.3	-	10	1056	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	IFT172_ENST00000416524.2_Missense_Mutation_p.R297Q|IFT172_ENST00000359466.6_Missense_Mutation_p.R318Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	318					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AATACTCCTTCGGAGGCAGCA	0.498000													11	26					0	0	1	0	0
TRMT61A	115708	broad.mit.edu	37	14	104001083	104001083	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104001083C>G	ENST00000389749.4	+	4	902	c.795C>G	c.(793-795)ttC>ttG	p.F265L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	265						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CCAGCCCCTTCCGCAGCGGCA	0.706000													5	12					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52371064	52371064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:52371064G>A	ENST00000296585.5	+	23	2898	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	919					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348000													11	31					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71344785	71344785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:71344785C>T	ENST00000392650.3	-	44	6118	c.6118G>A	c.(6118-6120)Gag>Aag	p.E2040K	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.E2021K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2040					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGCTGCTCTCTGCAGGGATG	0.647000													8	47					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987332	35987332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:35987332G>C	ENST00000490799.1	-	2	506	c.153C>G	c.(151-153)atC>atG	p.I51M	SLC26A8_ENST00000394602.2_Missense_Mutation_p.I51M|SLC26A8_ENST00000355574.2_Missense_Mutation_p.I51M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	51					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGTGATGTTGATGTTCATGT	0.498000													3	28					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090189	114090189	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:114090189G>A	ENST00000374428.1	-	1	611	c.612C>T	c.(610-612)caC>caT	p.H204H	OR2K2_ENST00000302681.1_Silent_p.H175H			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CACACGTGAAGTGATCGATGA	0.527000													10	47					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4834545	4834545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:4834545G>A	ENST00000378191.4	+	5	1603	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	AJAP1_ENST00000378190.3_Missense_Mutation_p.E408K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	408	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GAAATGGTTTGAAATCTCCTG	0.522000													19	76					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202698947	202698947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:202698947G>A	ENST00000367265.3	-	26	5549	c.4385C>T	c.(4384-4386)tCt>tTt	p.S1462F	KDM5B_ENST00000367264.2_Missense_Mutation_p.S1498F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1462					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGTTTCAGCAGAACGAACTAA	0.478000													32	127					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893953	34893953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:34893953G>A	ENST00000592983.1	+	2	1583	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	PIGW_ENST00000328396.2_Missense_Mutation_p.D335N|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	335					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATATCAAAGACTTGATAAA	0.398000													9	44					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994038	56994038	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:56994038C>T	ENST00000179765.5	-	25	4948	c.4749G>A	c.(4747-4749)gaG>gaA	p.E1583E	BAZ2A_ENST00000551812.1_Silent_p.E1615E|BAZ2A_ENST00000549884.1_Silent_p.E1613E|BAZ2A_ENST00000379441.3_Silent_p.E1585E			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1615					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCAGGGCCTTCTCCAGCACAA	0.577000													6	21					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797326	7797326	+	Silent	SNP	T	T	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:7797326T>C	ENST00000303635.7	+	15	3561	c.3354T>C	c.(3352-3354)tgT>tgC	p.C1118C	CAMTA1_ENST00000439411.2_Silent_p.C1118C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGTGGGCGTGTGCCCTAGGGC	0.552000			T	WWTR1	epitheliod hemangioendothelioma								29	122					0	0	1	0	0
CXCL16	58191	broad.mit.edu	37	17	4638451	4638451	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638451G>A	ENST00000293778.6	-	4	1133	c.711C>T	c.(709-711)ctC>ctT	p.L237L	CXCL16_ENST00000574412.1_Silent_p.L237L|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	218					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						GGGCTGCGGTGAGGATGAAGA	0.597000													9	27					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33148774	33148774	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33148774G>A	ENST00000341947.2	-	10	1415	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	COL11A2_ENST00000395197.1_Silent_p.L336L|COL11A2_ENST00000374712.1_Silent_p.L315L|COL11A2_ENST00000357486.1_Silent_p.L375L|COL11A2_ENST00000361917.1_Silent_p.L289L|COL11A2_ENST00000374713.1_Silent_p.L349L|COL11A2_ENST00000374708.4_Silent_p.L310L|COL11A2_ENST00000374714.1_Silent_p.L370L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	396	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCCCCTCCACGAGCATACCCT	0.552000													15	78					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42998880	42998880	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998880C>T	ENST00000252115.5	-	2	450	c.346G>A	c.(346-348)Gat>Aat	p.D116N	POLDIP3_ENST00000348657.2_Missense_Mutation_p.D116N|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.D116N|POLDIP3_ENST00000451060.2_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	116					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TCCCGGGCATCAGCAACCTGG	0.557000													23	155					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384836	48384836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:48384836G>A	ENST00000264313.6	+	5	1532	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	SLAIN2_ENST00000512093.1_Missense_Mutation_p.E179K	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	372						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TCGGGGAATAGAATATAGTAG	0.478000													13	41					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113661879	113661879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:113661879G>A	ENST00000361127.4	+	17	2903	c.2705G>A	c.(2704-2706)tGc>tAc	p.C902Y	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	902						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGGGTGATTTGCTCAGATTGT	0.398000													23	103					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237605	9237605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9237605C>T	ENST00000305444.2	-	1	21	c.22G>A	c.(22-24)Gac>Aac	p.D8N		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTGGAGTGTCTGAGAAGTTT	0.443000													6	31					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48247428	48247428	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:48247428G>A	ENST00000394747.1	-	9	1631	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ABCC11_ENST00000537808.1_Missense_Mutation_p.R428W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R428W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R428W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R428W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	428	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ACTGACAGCCGAAGGAGATTC	0.547000													3	32					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139092511	139092511	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:139092511G>C	ENST00000371746.3	-	2	301	c.183C>G	c.(181-183)ctC>ctG	p.L61L	LHX3_ENST00000371748.5_Silent_p.L56L	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	56	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CGCTGCACTTGAGACACTTGC	0.612000													18	57					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30125450	30125450	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:30125450C>T	ENST00000216144.3	+	5	881	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	180						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			ACCAGCAGATCCGCCAGACTT	0.637000													24	111					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903328	176903328	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:176903328G>C	ENST00000367654.2	-	16	2668	c.2655C>G	c.(2653-2655)gtC>gtG	p.V885V	ASTN1_ENST00000424564.2_Silent_p.V877V|ASTN1_ENST00000367657.3_Silent_p.V877V|ASTN1_ENST00000361833.2_Silent_p.V877V			O14525	ASTN1_HUMAN	astrotactin 1	885					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCGCCGCTGGACCTGCTTGT	0.502000													16	64					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150410275	150410275	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:150410275C>G	ENST00000389378.2	-	18	2498	c.1910G>C	c.(1909-1911)tGa>tCa	p.*637S	TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000523200.1_Nonstop_Mutation_p.*573S|TNIP1_ENST00000315050.7_Nonstop_Mutation_p.*637S|TNIP1_ENST00000521591.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000522226.1_Nonstop_Mutation_p.*637S|TNIP1_ENST00000520931.1_Nonstop_Mutation_p.*584S|TNIP1_ENST00000524280.1_Missense_Mutation_p.E541Q	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	0					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTGGTCTCACTGAGGCCC	0.458000													10	35					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10992553	10992553	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:10992553G>A	ENST00000324288.8	+	4	455	c.322G>A	c.(322-324)Gac>Aac	p.D108N	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.D108N	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	108	Asp/Glu-rich (acidic).				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGTCTTCCAGGACTCCCAGCT	0.567000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								4	27					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323072	136323072	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:136323072G>A	ENST00000371929.3	+	28	4377	c.3933G>A	c.(3931-3933)gtG>gtA	p.V1311V	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.V1224V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.V107V|ADAMTS13_ENST00000355699.2_Silent_p.V1255V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1311	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGAAATCGTGAGCCCCTCGC	0.607000													20	77					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420816	105420816	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105420816G>A	ENST00000333244.5	-	7	1091	c.972C>T	c.(970-972)ctC>ctT	p.L324L		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	324						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)			ATCTGAGGTTGAGGAACTTCC	0.647000													9	30					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329861	126329861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:126329861C>G	ENST00000394329.3	+	4	5845	c.5832C>G	c.(5830-5832)ttC>ttG	p.F1944L	FAT4_ENST00000335110.5_Missense_Mutation_p.F242L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1944	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACCTATTTTCAGCTTGAATT	0.348000													21	92					0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19283684	19283684	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:19283684C>T	ENST00000289119.2	-	2	326	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.E63K|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	63						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTGAAACTCTCACCCCCGGTC	0.547000													15	64					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013247	142013247	+	RNA	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:142013247G>T	ENST00000390357.3	+	0	131																											TCATGGGAATGACAAATAAGA	0.458000													8	54					0.00307968	0.00311634	1	1	0
FBXW11	23291	broad.mit.edu	37	5	171305024	171305024	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:171305024G>C	ENST00000296933.6	-	7	1230	c.860C>G	c.(859-861)tCt>tGt	p.S287C	FBXW11_ENST00000393802.2_Missense_Mutation_p.S266C|FBXW11_ENST00000265094.5_Missense_Mutation_p.S300C|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000425623.2_Missense_Mutation_p.S268C	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	300					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCACCGTAGAATCTGAAGA	0.458000													13	36					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41150077	41150077	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:41150077C>G	ENST00000263413.3	-	16	2605	c.2341G>C	c.(2341-2343)Gga>Cga	p.G781R	C6_ENST00000337836.5_Missense_Mutation_p.G781R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	781	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CATTCAGATCCTGATTGTTTC	0.388000													8	63					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45931079	45931079	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:45931079G>A	ENST00000348697.2	+	8	931		c.e8-1		FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site			P23142	FBLN1_HUMAN	fibulin 1						interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGATGTACCAGATATTGACGA	0.413000													15	67					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434046	22434046	+	RNA	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:22434046C>G	ENST00000390442.3	+	0	155																											CTGGACCACTCAGTGTTCCAG	0.488000													14	64					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116046112	116046112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:116046112G>C	ENST00000603594.1	+	11	1733	c.1412G>C	c.(1411-1413)cGa>cCa	p.R471P	VWA2_ENST00000392982.3_Missense_Mutation_p.R471P	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	471	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCAAGGGCGCGAGAGCTGCTC	0.632000													22	87					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105445900	105445900	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:105445900C>G	ENST00000258494.9	-	12	1643	c.1503G>C	c.(1501-1503)atG>atC	p.M501I	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.M501I	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	501	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCTTGCATTCATTCTTCCCC	0.353000													21	47					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675205	40675205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:40675205G>A	ENST00000416151.2	+	1	284	c.169G>A	c.(169-171)Gag>Aag	p.E57K	KNSTRN_ENST00000448395.2_Missense_Mutation_p.E57K|KNSTRN_ENST00000249776.8_Missense_Mutation_p.E57K	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TCTTTTAAACGAGAGCGAGAA	0.622000													35	138					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103825450	103825450	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103825450C>T	ENST00000299238.5	+	1	304	c.219C>T	c.(217-219)gcC>gcT	p.A73A		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	73						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CCTGGCCGGCCGGCCAGCCCT	0.771000									Hermansky-Pudlak syndrome				6	2					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850461	71850461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71850461G>A	ENST00000445078.2	+	4	619	c.548G>A	c.(547-549)tGg>tAg	p.W183*	FOLR3_ENST00000442948.2_Nonsense_Mutation_p.W142*|FOLR3_ENST00000456237.1_Nonsense_Mutation_p.W185*			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	141					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAGCGCTGGTGGGAGGACTGT	0.562000													3	23					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37955888	37955888	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:37955888C>T	ENST00000377707.3	-	4	1783	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	406	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACATTTGCTTCTCCAGGGGGA	0.512000													3	29					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40660829	40660829	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:40660829G>A	ENST00000454349.2	+	5	806	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E199K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	199					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGACATGGAAGAGTGGCCTTG	0.532000													21	133					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113074098	113074098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:113074098C>T	ENST00000409871.1	+	6	1200	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.Q267*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	267							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATTTATTAATCAGCACACAGT	0.313000													4	23					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905757	164905757	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:164905757G>A	ENST00000475390.1	-	2	3305	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	SLITRK3_ENST00000241274.3_Silent_p.L954L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	954						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCTTAACTCGAGGTAATCAC	0.448000										HNSCC(40;0.11)			49	134					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908745	140908745	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:140908745G>A	ENST00000253811.6	-	21	2915	c.2775C>T	c.(2773-2775)ggC>ggT	p.G925G	DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389054.3_Silent_p.G921G|DIAPH1_ENST00000518047.1_Silent_p.G912G|DIAPH1_ENST00000398557.4_Silent_p.G924G|DIAPH1_ENST00000398566.3_Silent_p.G916G|DIAPH1_ENST00000389057.5_Silent_p.G915G|DIAPH1_ENST00000520569.1_Silent_p.G867G|DIAPH1_ENST00000398562.2_Silent_p.G900G			O60610	DIAP1_HUMAN	diaphanous-related formin 1	924	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCACCACGCCAAACTGCT	0.512000													4	113					0	0	1	0	0
SWSAP1	126074	broad.mit.edu	37	19	11485524	11485524	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11485524C>T	ENST00000312423.2	+	1	164	c.105C>T	c.(103-105)ggC>ggT	p.G35G	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	35																	AGGGCCAAGGCCCAGTCCTCT	0.642000													44	135					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454787	96454787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:96454787G>T	ENST00000285979.6	+	4	794	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.E199*|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TAACTTGATGGAAAAATTCAA	0.388000													9	45					0.307466	0.307466	1	1	0
DCST1	149095	broad.mit.edu	37	1	155018896	155018896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:155018896G>A	ENST00000295542.1	+	13	1525	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	DCST1_ENST00000392480.1_Missense_Mutation_p.D477N|DCST1_ENST00000423025.2_Missense_Mutation_p.D452N|DCST1_ENST00000368419.2_Missense_Mutation_p.D477N	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	477						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGTGGCTTGGACTGGGCTCT	0.612000													22	78					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79281108	79281108	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:79281108C>G	ENST00000442340.1	+	5	595	c.105C>G	c.(103-105)gtC>gtG	p.V35V	TBX22_ENST00000373294.5_Silent_p.V155V|TBX22_ENST00000373291.1_Silent_p.V35V|TBX22_ENST00000373296.3_Silent_p.V155V	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	155					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCAGGTACGTCTATCACAGCT	0.507000													17	28					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655695	48655695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:48655695G>A	ENST00000352832.5	+	9	2443	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	CACNA1G_ENST00000515165.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E691K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000416767.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E691K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E691K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E691K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E691K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	691					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCAGACAGCGAGGCAGTTTA	0.667000													19	58					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924719	188924719	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:188924719G>T	ENST00000326866.4	+	4	1166	c.758G>T	c.(757-759)gGa>gTa	p.G253V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G253V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	253					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGGGTGCGGAAAGCGCTTC	0.507000													6	46					0.0215528	0.0217153	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3328667	3328667	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:3328667G>C	ENST00000378398.3	+	10	1991	c.1909G>C	c.(1909-1911)Gac>Cac	p.D637H	PRDM16_ENST00000442529.2_Missense_Mutation_p.D636H|PRDM16_ENST00000514189.1_Missense_Mutation_p.D637H|PRDM16_ENST00000511072.1_Missense_Mutation_p.D637H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.D636H|PRDM16_ENST00000270722.5_Missense_Mutation_p.D636H|PRDM16_ENST00000441472.2_Missense_Mutation_p.D636H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	636					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCTGACAAGGACAAGGGCAA	0.682000			T	EVI1	"""MDS, AML"""								16	132					0	0	1	0	0
PCMT1	5110	broad.mit.edu	37	6	150114710	150114710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:150114710G>A	ENST00000464889.1	+	5	781	c.497G>A	c.(496-498)gGa>gAa	p.G166E	PCMT1_ENST00000544496.1_Missense_Mutation_p.G73E|PCMT1_ENST00000367378.1_Missense_Mutation_p.G166E|PCMT1_ENST00000367384.2_Missense_Mutation_p.G166E|PCMT1_ENST00000367380.5_Missense_Mutation_p.G108E					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AAAGTCATAGGAATTGATCAC	0.363000													6	29					0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133714494	133714494	+	Silent	SNP	G	G	A	rs139740763	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:133714494G>A	ENST00000299140.3	-	3	231	c.177C>T	c.(175-177)tcC>tcT	p.S59S	SPATA19_ENST00000532889.1_Silent_p.S59S	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	59					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGTGGTTGATGGACAGCTTTT	0.512000													10	63					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109962782	109962782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:109962782C>T	ENST00000424296.2	-	10	948	c.872G>A	c.(871-873)aGa>aAa	p.R291K	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R291K|AK9_ENST00000285397.5_Missense_Mutation_p.R291K	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AATAGCTGCTCTTTTTAGGTT	0.313000													7	19					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	346					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113194255	113194255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:113194255C>G	ENST00000401783.2	-	32	5629	c.5293G>C	c.(5293-5295)Gat>Cat	p.D1765H	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1742H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1765	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGGATCCATCTACGTTCAGG	0.383000													14	72					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201186	8201186	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:8201186G>A	ENST00000600128.1	-	12	1767	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	FBN3_ENST00000270509.2_Silent_p.D451D|FBN3_ENST00000601739.1_Silent_p.D451D			Q75N90	FBN3_HUMAN	fibrillin 3	451	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTGCATTCGTCTACATCTG	0.682000													4	86					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549761	187549761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187549761G>A	ENST00000441802.2	-	8	4689	c.4480C>T	c.(4480-4482)Cag>Tag	p.Q1494*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1494	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTACTGCTCTGCAGAGTGTAG	0.418000										HNSCC(5;0.00058)			10	54					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326687	152326687	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152326687G>C	ENST00000388718.5	-	3	3647	c.3575C>G	c.(3574-3576)tCt>tGt	p.S1192C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1192	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGTCCAGAACTAGAGAA	0.493000													18	86					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4382387	4382387	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:4382387C>T	ENST00000262366.3	+	3	927	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	GLIS2_ENST00000433375.1_Silent_p.L36L|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	36	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCCGTGCTCTGCACAGGGA	0.687000													7	24					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179711	90179711	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:90179711G>C	ENST00000370454.4	+	3	1837	c.1582G>C	c.(1582-1584)Gat>Cat	p.D528H	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	528						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCTAAGTCATGATATTTCCAG	0.468000													10	52					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504655	151504655	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:151504655C>G	ENST00000317605.4	+	1	1579	c.474C>G	c.(472-474)gtC>gtG	p.V158V	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	158					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCAGCGAGGTCAAGTTGCGCA	0.622000													19	99					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110852721	110852721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:110852721G>A	ENST00000485303.1	+	6	1584	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	437					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTTTCGTGGAGACTACTTTGC	0.418000													28	70					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561130	29561130	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:29561130C>G	ENST00000332303.4	-	1	903	c.780G>C	c.(778-780)aaG>aaC	p.K260N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	260	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAACTTTCATCTTGCTGGTTT	0.557000													30	119					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231079776	231079776	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:231079776G>C	ENST00000258381.6	-	3	282	c.205C>G	c.(205-207)Ctc>Gtc	p.L69V	SP110_ENST00000258382.5_Missense_Mutation_p.L69V|SP110_ENST00000358662.4_Missense_Mutation_p.L69V|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000392048.3_Missense_Mutation_p.L69V|SP110_ENST00000540870.1_Missense_Mutation_p.L75V	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	69	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTGGGTGAGAATGTTGTGC	0.388000													4	71					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124627121	124627121	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:124627121G>A	ENST00000311075.3	-	11	1447	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	470						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GAAGCCTGTCGACCGCAGTTT	0.423000													11	51					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447259	99447259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99447259G>A	ENST00000342499.4	+	5	549	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	CYP3A43_ENST00000354829.2_Silent_p.L204L|CYP3A43_ENST00000312017.5_Silent_p.L204L|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L204L|CYP3A43_ENST00000477658.1_Intron			Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	0			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ATCCCTTTCTGAAAAATATGA	0.363000													14	58					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35634007	35634007	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:35634007C>A	ENST00000353139.5	-	7	1202	c.720_splice	c.e7-1	p.A241_splice	ACACA_ENST00000394406.2_Splice_Site_p.A204_splice|ACACA_ENST00000360679.3_Splice_Site_p.A146_splice|ACACA_ENST00000335166.5_Splice_Site_p.A126_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	204	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCCACACTGCCTGCAAGGGA	0.448000													24	94					1.10513e-12	1.16232e-12	1	1	0
SORL1	6653	broad.mit.edu	37	11	121476202	121476202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:121476202C>T	ENST00000260197.7	+	35	4999	c.4870C>T	c.(4870-4872)Cag>Tag	p.Q1624*	SORL1_ENST00000527934.1_Nonsense_Mutation_p.Q239*|SORL1_ENST00000534286.1_Nonsense_Mutation_p.Q534*|SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q568*|SORL1_ENST00000532694.1_Nonsense_Mutation_p.Q470*	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1624	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TACCACGTATCAGGTTAAAGT	0.448000													42	177					0	0	1	0	0
IER2	9592	broad.mit.edu	37	19	13264165	13264165	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:13264165C>G	ENST00000588173.1	+	1	1377	c.165C>G	c.(163-165)ctC>ctG	p.L55L	IER2_ENST00000292433.3_Silent_p.L55L|CTC-250I14.6_ENST00000592882.1_RNA|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000587885.1_Silent_p.L55L			Q9BTL4	IER2_HUMAN	immediate early response 2	55										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGAGGCCCTCGAGCCCGAGG	0.731000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59761219	59761219	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:59761219G>C	ENST00000259008.2	-	20	3455	c.3188C>G	c.(3187-3189)tCg>tGg	p.S1063W		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1063	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGATCCAAACGATGTGTTTAC	0.388000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					20	138					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10942636	10942636	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:10942636G>A	ENST00000404371.2	-	4	643	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000272227.3_Silent_p.F50F|PDIA6_ENST00000381611.4_Silent_p.F55F|PDIA6_ENST00000404824.2_Silent_p.F98F|PDIA6_ENST00000540494.1_Silent_p.F47F			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	50	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATGGAGCATAGAATTCTACAA	0.313000													10	45					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133788957	133788957	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:133788957C>G	ENST00000321016.8	-	19	4257	c.4027G>C	c.(4027-4029)Gag>Cag	p.E1343Q	IGSF9B_ENST00000533871.2_Intron			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1343						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGTGCTCTCTCAGGCGGGCTG	0.622000													4	6					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696151	60696151	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:60696151C>T	ENST00000005286.4	+	4	738	c.585C>T	c.(583-585)ttC>ttT	p.F195F	TMEM132A_ENST00000453848.2_Silent_p.F195F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	195						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGCACTGGTTCTCACAGGCCT	0.677000													18	68					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187527363	187527363	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:187527363G>C	ENST00000441802.2	-	17	10420	c.10211C>G	c.(10210-10212)tCa>tGa	p.S3404*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3404	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGTAACCTGAAATCTTTTC	0.517000										HNSCC(5;0.00058)			9	41					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212485	1212485	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1212485C>T	ENST00000304460.10	+	4	605	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	183					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCTCAACATCTCCACGTCCA	0.617000													31	109					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288372	132288372	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:132288372C>G	ENST00000467992.2	+	1	1136	c.822C>G	c.(820-822)ttC>ttG	p.F274L	CCDC74A_ENST00000409856.3_Missense_Mutation_p.F106L|CCDC74A_ENST00000295171.6_Missense_Mutation_p.F172L			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	172										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGTCAAGCTTCCAGTCTGTCA	0.637000													11	56					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100888996	100888996	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100888996C>G	ENST00000343933.5	-	11	1538	c.1281G>C	c.(1279-1281)ttG>ttC	p.L427F	CORO2A_ENST00000375077.4_Missense_Mutation_p.L427F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	427					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTGTCTGATTCAAGAGCCGGG	0.582000													36	133					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12749886	12749886	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:12749886G>A	ENST00000379350.1	+	3	243	c.114G>A	c.(112-114)gcG>gcA	p.A38A	PHACTR1_ENST00000379348.2_Silent_p.A38A|PHACTR1_ENST00000332995.7_Silent_p.A38A			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	38						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCGCCGGGCGACCCTGCTCC	0.677000													4	29					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49586894	49586894	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:49586894T>A	ENST00000371175.4	-	2	365	c.339A>T	c.(337-339)aaA>aaT	p.K113N	RHAG_ENST00000229810.7_Missense_Mutation_p.K113N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	113					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATGCTCACTTTTTGATTCCAA	0.448000													9	30					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101342389	101342389	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:101342389G>A	ENST00000370114.3	-	4	1901	c.465C>T	c.(463-465)atC>atT	p.I155I	EXTL2_ENST00000535414.1_Silent_p.I142I|EXTL2_ENST00000370113.3_Silent_p.I155I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	155					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CTGGGGTGCTGATGAGTGTGT	0.348000													18	78					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876662	148876662	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:148876662C>A	ENST00000420008.2	+	6	1973	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	ZNF398_ENST00000335901.4_Silent_p.P395P|ZNF398_ENST00000491174.1_Silent_p.P395P|ZNF398_ENST00000483892.1_Silent_p.P395P|ZNF398_ENST00000540950.1_Silent_p.P571P|ZNF398_ENST00000475153.1_Silent_p.P566P|ZNF398_ENST00000426851.2_Silent_p.P395P	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	566					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGGAGCGGCCCTACCCCTGCT	0.597000													7	104					2.62144e-13	2.7633e-13	1	1	0
LEMD2	221496	broad.mit.edu	37	6	33744954	33744954	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33744954C>G	ENST00000293760.5	-	7	1238	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	LEMD2_ENST00000508327.1_Missense_Mutation_p.E105Q|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	407	Poly-Glu.					integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTTGTTCCTCCTCTTCTAAC	0.493000													53	221					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42652175	42652175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42652175G>C	ENST00000397163.3	+	1	391	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	CAPN3_ENST00000318023.7_Missense_Mutation_p.E58Q|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Missense_Mutation_p.E58Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.E58Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	58					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CGGAGTGAAAGAGAAGACATT	0.483000													55	222					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43475401	43475401	+	Missense_Mutation	SNP	C	C	T	rs146394827		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:43475401C>T	ENST00000532038.1	-	9	1225	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	ARHGAP27_ENST00000428638.1_Missense_Mutation_p.D586N|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D564N|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.D218N|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.D245N|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.D245N|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D559N			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	586					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCAGAGCCATCTCGGCTCCGT	0.592000													4	69					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879441	27879441	+	Silent	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:27879441A>G	ENST00000303324.2	-	1	733	c.657T>C	c.(655-657)gcT>gcC	p.A219A		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGACAATAAAAGCATACGATA	0.423000													4	73					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046580	42046580	+	Missense_Mutation	SNP	C	C	G	rs11537823		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:42046580C>G	ENST00000220809.4	-	4	381	c.125G>C	c.(124-126)aGa>aCa	p.R42T	PLAT_ENST00000429089.2_Missense_Mutation_p.R42T|PLAT_ENST00000270189.6_Missense_Mutation_p.R42T|PLAT_ENST00000519510.1_Missense_Mutation_p.R42T|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.R42T|PLAT_ENST00000524009.1_Missense_Mutation_p.R42T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	42	Fibronectin type-I.|Important for binding to annexin A2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTTTCATCTCTGCAGATCAC	0.483000													32	132					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138594	126138594	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:126138594C>T	ENST00000393425.1	+	9	948	c.849C>T	c.(847-849)ctC>ctT	p.L283L	CCDC37_ENST00000505024.1_Silent_p.L283L|CCDC37_ENST00000352312.1_Silent_p.L282L			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	282										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACTCGTTTCTCAAAAAGGCCA	0.473000													19	68					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43220516	43220516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43220516G>C	ENST00000259750.4	+	3	231	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	50	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGATCTACGAGGCCATGGA	0.592000													26	98					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677947	37677947	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:37677947C>G	ENST00000532828.2	-	5	743	c.492G>C	c.(490-492)ggG>ggC	p.G164G	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000531805.1_Silent_p.G109G|ZNF585B_ENST00000312908.5_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAAAGCCCTCCCACATTCAA	0.398000													29	70					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879195	151879195	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:151879195C>T	ENST00000355193.2	-	36	5968	c.5750G>A	c.(5749-5751)aGa>aAa	p.R1917K	KMT2C_ENST00000262189.6_Missense_Mutation_p.R1917K					lysine (K)-specific methyltransferase 2C																		AGCAGAATTTCTTCTGGAAAA	0.483000													13	63					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009439	201009439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201009439C>A	ENST00000362061.3	-	43	5516	c.5290G>T	c.(5290-5292)Gag>Tag	p.E1764*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.E1745*|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1764					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGTGTCTCCTCATGAAGAGAC	0.582000													5	23					1.23904e-05	1.27029e-05	1	1	0
ST6GAL1	6480	broad.mit.edu	37	3	186769125	186769125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:186769125G>A	ENST00000169298.3	+	5	1370	c.696G>A	c.(694-696)atG>atA	p.M232I	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.M232I|ST6GAL1_ENST00000457772.2_Start_Codon_SNP_p.M1I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	232					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TTCGCCTGATGAACTCTCAGG	0.458000													5	52					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51787314	51787314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:51787314C>T	ENST00000251076.5	-	19	4977	c.4690G>A	c.(4690-4692)Gag>Aag	p.E1564K	DMXL2_ENST00000543779.2_Missense_Mutation_p.E1564K|DMXL2_ENST00000449909.3_Missense_Mutation_p.E928K|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1564						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAACCACACTCATCTAATGTA	0.373000													18	59					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	24995142	24995142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:24995142G>A	ENST00000261192.7	-	7	1217	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	BCAT1_ENST00000538118.1_Missense_Mutation_p.L230F|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.L194F|BCAT1_ENST00000539282.1_Missense_Mutation_p.L243F|BCAT1_ENST00000342945.5_Missense_Mutation_p.L170F	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	231					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TGGGCAAAAAGAGATGAGCCG	0.438000													7	42					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56647746	56647746	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:56647746G>A	ENST00000394672.3	+	11	1604	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	CCDC66_ENST00000326595.7_Missense_Mutation_p.E478K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E512K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	512										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAACAGTATGAAGAAGACAT	0.393000													20	111					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33356328	33356328	+	Silent	SNP	T	T	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33356328T>A	ENST00000374796.2	-	6	3023	c.453A>T	c.(451-453)ggA>ggT	p.G151G	NCOA6_ENST00000359003.2_Silent_p.G151G			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	151	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTCCCATGGGTCCATTCATTC	0.438000													18	84					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79846022	79846022	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:79846022C>G	ENST00000331204.4	-	6	786		c.e6-1		ALYREF_ENST00000505490.2_Splice_Site	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor						intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										TGGTGTCCATCTGAAACACAG	0.642000													10	66					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670876	49670876	+	Missense_Mutation	SNP	G	G	C	rs138278000		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:49670876G>C	ENST00000561648.1	-	4	2240	c.2187C>G	c.(2185-2187)ttC>ttG	p.F729L	ZNF423_ENST00000562520.1_Missense_Mutation_p.F669L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F612L|ZNF423_ENST00000563137.2_Missense_Mutation_p.F669L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F729L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F669L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F612L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	729					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F729F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTTGGAGTCGAAGACCTCCT	0.567000													5	53					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890661	197890661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:197890661C>T	ENST00000367390.3	+	4	605	c.578C>T	c.(577-579)aCg>aTg	p.T193M	LHX9_ENST00000337020.2_Missense_Mutation_p.T202M|LHX9_ENST00000561173.1_Missense_Mutation_p.T208M|LHX9_ENST00000367391.1_Missense_Mutation_p.T193M|LHX9_ENST00000367387.4_Missense_Mutation_p.T202M	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	202	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGAGCTACACGGAGCTGGCG	0.657000													8	49					0	0	1	0	0
SCAMP2	10066	broad.mit.edu	37	15	75146972	75146972	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:75146972G>T	ENST00000268099.9	-	2	185	c.76C>A	c.(76-78)Ctg>Atg	p.L26M		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	26					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GCGTTGGTCAGCTGGGTCACA	0.622000													3	20					2.56e-06	2.63903e-06	1	1	0
MUC16	94025	broad.mit.edu	37	19	9033703	9033703	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9033703G>A	ENST00000397910.4	-	9	36437	c.36234C>T	c.(36232-36234)ctC>ctT	p.L12078L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12080	SEA 1.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGAAGTTGAGGGTGAATG	0.532000													4	83					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12514243	12514243	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:12514243C>G	ENST00000314565.4	+	2	493	c.162C>G	c.(160-162)atC>atG	p.I54M	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.I35M	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	54										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CCGATGTCATCAAGTTGCAAG	0.488000													28	70					0	0	1	0	0
FAM126A	84668	broad.mit.edu	37	7	22999885	22999885	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:22999885C>G	ENST00000432176.2	-	10	1213	c.981G>C	c.(979-981)tgG>tgC	p.W327C	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Missense_Mutation_p.W327C	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	327						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CATGTCTTTTCCACCTATGAC	0.358000													29	137					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892378	892378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:892378C>G	ENST00000327044.6	-	4	431	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	128						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTCCTTCCTCCGCTCCATCC	0.582000													31	131					0	0	1	0	0
EFCAB11	90141	broad.mit.edu	37	14	90420300	90420300	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:90420300C>G	ENST00000316738.7	-	2	149	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	EFCAB11_ENST00000267544.9_5'UTR|EFCAB11_ENST00000555872.1_Missense_Mutation_p.E17Q|EFCAB11_ENST00000556609.1_5'UTR|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556005.1_Missense_Mutation_p.E17Q|EFCAB11_ENST00000538485.2_Missense_Mutation_p.E41Q	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	41	EF-hand 1.						calcium ion binding			large_intestine(1)|lung(1)	2						TTAAAGTCCTCTCTGCTGAGA	0.358000													14	42					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105509444	105509444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:105509444G>A	ENST00000332180.5	+	6	460	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	125					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TACAGCTACAGATGCCAGCAT	0.313000													32	84					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811455	23811455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:23811455G>A	ENST00000314520.3	+	1	1002	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	176						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTCGGCTGCTGAAAGGGGTTT	0.607000													8	41					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747560	88747560	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:88747560G>A	ENST00000332281.5	-	2	725	c.639C>T	c.(637-639)atC>atT	p.I213I	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	213					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CCTTGCCACAGATCTTGCAGG	0.617000													10	150					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152485448	152485448	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152485448C>T	ENST00000367255.5	-	131	24241	c.23640G>A	c.(23638-23640)ctG>ctA	p.L7880L	SYNE1_ENST00000423061.1_Silent_p.L7809L|SYNE1_ENST00000341594.5_Silent_p.L7492L|SYNE1_ENST00000539504.1_Silent_p.L35L|SYNE1_ENST00000354674.4_Silent_p.L35L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.L2404L|SYNE1_ENST00000265368.4_Silent_p.L7880L|SYNE1_ENST00000448038.1_Silent_p.L7809L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7880					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTCTCCTTCAGCTTCTTCA	0.557000										HNSCC(10;0.0054)			12	56					0	0	1	0	0
NR2C2AP	126382	broad.mit.edu	37	19	19312802	19312802	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:19312802C>G	ENST00000331552.6	-	5	715	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000420605.2_Missense_Mutation_p.E118Q|NR2C2AP_ENST00000590907.2_5'UTR	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	118					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			GTGGCATCCTCAAACGTCACC	0.577000													11	71					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65471538	65471538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:65471538G>C	ENST00000286574.4	-	3	759	c.385C>G	c.(385-387)Cac>Gac	p.H129D		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	129	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GATGCCTTGTGAGGCACTGTT	0.443000			T	HMGA2	pleomorphic salivary gland adenoma								4	29					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605134	90605134	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:90605134C>G	ENST00000369352.1	+	1	947	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	316					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GTAGACCCTTCCAATGGGAAA	0.498000													9	47					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970668	123970668	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:123970668G>A	ENST00000369005.1	+	9	7068	c.6728G>A	c.(6727-6729)gGg>gAg	p.G2243E	TACC2_ENST00000260733.3_Missense_Mutation_p.G321E|TACC2_ENST00000368999.1_Missense_Mutation_p.G321E|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.G2198E|TACC2_ENST00000334433.3_Missense_Mutation_p.G2243E|TACC2_ENST00000513429.1_Missense_Mutation_p.G389E|TACC2_ENST00000369004.3_Missense_Mutation_p.G321E|TACC2_ENST00000358010.1_Missense_Mutation_p.G389E|TACC2_ENST00000515273.1_Missense_Mutation_p.G2247E|TACC2_ENST00000360561.3_Missense_Mutation_p.G321E|TACC2_ENST00000453444.2_Missense_Mutation_p.G2247E|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2243						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCGGAGGCAGGGGAGGTAACC	0.612000													12	57					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85573134	85573134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:85573134C>T	ENST00000295802.4	-	6	1193	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	RETSAT_ENST00000263854.6_Missense_Mutation_p.E361K|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.E300K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	361					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AGTAGGTGTTCATAGGTGTTG	0.582000													28	147					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43098305	43098305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:43098305G>A	ENST00000230419.4	+	5	939	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PTK7_ENST00000352931.2_Missense_Mutation_p.E240K|PTK7_ENST00000349241.2_Missense_Mutation_p.E240K|PTK7_ENST00000471863.1_Missense_Mutation_p.E240K|PTK7_ENST00000345201.2_Missense_Mutation_p.E240K|PTK7_ENST00000481273.1_Missense_Mutation_p.E248K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	240	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGAGGTATGAGGAGGCCAT	0.597000													8	35					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73733290	73733290	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:73733290C>T	ENST00000427855.1	+	24	3447	c.3345C>T	c.(3343-3345)ttC>ttT	p.F1115F	PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Silent_p.F1088F|PAPLN_ENST00000555445.1_Silent_p.F1099F|PAPLN_ENST00000554301.1_Silent_p.F1115F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1115	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGTCGCTTTCAATGGGCAGG	0.592000													20	77					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125424	34125424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:34125424C>T	ENST00000297161.2	+	14	1839	c.1465C>T	c.(1465-1467)Ctc>Ttc	p.L489F	BMPER_ENST00000426693.1_Missense_Mutation_p.L489F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	489	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCGCCGCATCTCAAGGGCAA	0.438000													12	47					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9462025	9462025	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462025G>A	ENST00000379719.3	+	23	2861	c.2719G>A	c.(2719-2721)Gat>Aat	p.D907N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	907	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGAAGATGATATTGATGA	0.373000													15	61					0	0	1	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													7	14					0.27861	0.278909	1	1	0
RPL27	6155	broad.mit.edu	37	17	41154916	41154916	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:41154916C>T	ENST00000589913.1	+	4	664	c.390C>T	c.(388-390)ttC>ttT	p.F130F	RPL27_ENST00000590864.1_Silent_p.F74F|RPL27_ENST00000589037.1_Silent_p.F130F|RPL27_ENST00000253788.5_Silent_p.F130F			P61353	RL27_HUMAN	ribosomal protein L27	130					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ACAAGTGGTTCTTCCAGAAAC	0.368000													5	185					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72629139	72629139	+	Silent	SNP	C	C	T	rs111261486	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:72629139C>T	ENST00000273951.8	-	6	1030	c.687G>A	c.(685-687)aaG>aaA	p.K229K	GC_ENST00000504199.1_Silent_p.K248K|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.K229K	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	229	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GCCTTGATTTCTTCTCCCCAT	0.363000													12	56					0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104670	88104670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:88104670C>G	ENST00000398392.2	-	1	1789	c.457G>C	c.(457-459)Gat>Cat	p.D153H	CGGBP1_ENST00000309534.6_Missense_Mutation_p.D153H|CGGBP1_ENST00000482016.1_Missense_Mutation_p.D153H|CGGBP1_ENST00000462901.1_Missense_Mutation_p.D153H			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TCATATCCATCAGGAAGATAT	0.448000													9	47					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													4	12					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45564603	45564603	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:45564603C>G	ENST00000355765.6	+	2	331	c.161C>G	c.(160-162)tCt>tGt	p.S54C		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	54					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GTGAATGCATCTACAGAAGAA	0.408000													17	64					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48034039	48034039	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:48034039G>A	ENST00000453192.2	-	9	941	c.698C>T	c.(697-699)tCc>tTc	p.S233F	SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000412142.1_Missense_Mutation_p.S145F|SUN3_ENST00000297325.4_Missense_Mutation_p.S245F|SUN3_ENST00000395572.2_Missense_Mutation_p.S245F			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	245	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGACCCTGGGAACCTGGAAA	0.453000													26	112					0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99623701	99623701	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:99623701C>G	ENST00000370602.1	+	3	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	51						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						AGCGGCAGCTCTTTGAAGAGA	0.602000													4	77					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33604789	33604789	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:33604789C>G	ENST00000170564.2	+	14	2323	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	670						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAAAAAGTATCACAGCACCGA	0.522000													3	40					0	0	1	0	0
NAB1	4664	broad.mit.edu	37	2	191537844	191537844	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:191537844G>C	ENST00000337386.5	+	6	1432	c.971G>C	c.(970-972)aGa>aCa	p.R324T	NAB1_ENST00000545490.1_Missense_Mutation_p.R94T|NAB1_ENST00000357215.5_Missense_Mutation_p.R324T|NAB1_ENST00000409581.1_Missense_Mutation_p.R324T|NAB1_ENST00000409641.1_Missense_Mutation_p.R324T|NAB1_ENST00000484774.1_Intron	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	324	Necessary for nuclear localization (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGTGGAGAAAGAGATGAATTA	0.323000													10	55					0	0	1	0	0
CXCL2	2920	broad.mit.edu	37	4	74964368	74964368	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:74964368G>C	ENST00000508487.2	-	3	430	c.258C>G	c.(256-258)ctC>ctG	p.L86L	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	86					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			ATGCGGGGTTGAGACAAGCTT	0.502000													19	82					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627362	187627362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:187627362G>A	ENST00000304698.5	+	8	2496	c.2293G>A	c.(2293-2295)Gat>Aat	p.D765N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	765						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCACATCCTAGATGGAGGGAG	0.488000													26	42					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55452026	55452026	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:55452026C>T	ENST00000371268.3	+	2	546	c.272C>T	c.(271-273)gCc>gTc	p.A91V	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	91						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TCCGTCAAGGCCAGCATCCCA	0.637000													56	179					0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4844556	4844556	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:4844556G>A	ENST00000381750.4	+	7	965	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RCL1_ENST00000448872.2_Missense_Mutation_p.E62K|RCL1_ENST00000381730.1_Missense_Mutation_p.E62K|RCL1_ENST00000381728.1_Missense_Mutation_p.E62K	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	248					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		ACTGGTTGCTGAGACCACCAG	0.567000													36	124					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15574877	15574877	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:15574877G>A	ENST00000343625.6	-	2	373	c.293C>T	c.(292-294)cCg>cTg	p.P98L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	98	Pro-rich.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GTCTGGCTCCGGCGGTGGGTT	0.652000													6	22					0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32124996	32124996	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:32124996G>A	ENST00000054950.3	+	5	1151	c.858G>A	c.(856-858)agG>agA	p.R286R	RCN1_ENST00000532942.1_Silent_p.R235R|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	286	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CTGAGGCCAGGCATCTGGTAT	0.433000													17	69					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95043133	95043133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:95043133C>A	ENST00000375643.3	-	7	906	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	IARS_ENST00000447699.2_Nonsense_Mutation_p.E104*|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Nonsense_Mutation_p.E214*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	214					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTTTCATCTTCTTCCAAAGGG	0.358000													4	35					0.150653	0.151301	1	1	0
SDK1	221935	broad.mit.edu	37	7	3991489	3991489	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:3991489G>C	ENST00000404826.2	+	7	1226	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SDK1_ENST00000389531.3_Missense_Mutation_p.E363Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	363	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATACGTCTGCGAGGCGGCGCT	0.602000													24	55					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39105062	39105062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:39105062G>C	ENST00000261425.3	+	8	1608	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	KLHL5_ENST00000504108.1_Missense_Mutation_p.E532Q|KLHL5_ENST00000381930.3_Missense_Mutation_p.E532Q|KLHL5_ENST00000508137.2_Missense_Mutation_p.E345Q|KLHL5_ENST00000261426.5_Missense_Mutation_p.E471Q|KLHL5_ENST00000359687.2_Missense_Mutation_p.E532Q	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	532						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAATACTGTAGAGTGCTACAA	0.428000													16	77					0	0	1	0	0
USB1	79650	broad.mit.edu	37	16	58051337	58051337	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:58051337C>G	ENST00000219281.3	+	5	714	c.603C>G	c.(601-603)ttC>ttG	p.F201L	USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.F150L|USB1_ENST00000539737.2_Missense_Mutation_p.F183L	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		TCACCACTTTCTACCAGGTAA	0.483000													11	45					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436611	19436611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:19436611G>C	ENST00000538714.1	+	11	1697	c.1693G>C	c.(1693-1695)Gaa>Caa	p.E565Q	PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E571Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E457Q|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E565Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E323Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E565Q	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	565							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTACAGATCGGAAGTGTCTTC	0.458000													14	44					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186679	213186679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:213186679C>G	ENST00000366962.3	-	2	295	c.141G>C	c.(139-141)tgG>tgC	p.W47C	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	47										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATGTCTGTTCCAGCAACACC	0.453000													33	142					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42153688	42153688	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:42153688G>A	ENST00000320955.6	-	46	7971	c.7744C>T	c.(7744-7746)Ctg>Ttg	p.L2582L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2582					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGAGCTCAGAAACAGCTGA	0.557000													18	59					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111025357	111025357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:111025357C>T	ENST00000262839.2	-	8	2824	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	636					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTCGATATCAGCATGATCC	0.433000													17	19					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230401	147230401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:147230401G>A	ENST00000271348.2	-	2	1107	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	GJA5_ENST00000369237.1_Missense_Mutation_p.R316C|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	316					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGGCCATAACGAACCTGGATG	0.537000													27	83					0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27037639	27037639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:27037639C>T	ENST00000355394.4	-	12	1613	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ABI1_ENST00000376160.1_Missense_Mutation_p.D430N|ABI1_ENST00000376166.1_Missense_Mutation_p.D401N|ABI1_ENST00000536334.1_Missense_Mutation_p.D349N|ABI1_ENST00000490841.2_Missense_Mutation_p.D284N|ABI1_ENST00000376138.3_Missense_Mutation_p.D407N|ABI1_ENST00000376170.4_Missense_Mutation_p.D406N|ABI1_ENST00000376140.3_Missense_Mutation_p.D436N|ABI1_ENST00000376137.4_Missense_Mutation_p.D378N|ABI1_ENST00000376139.2_Missense_Mutation_p.D431N|ABI1_ENST00000359188.4_Missense_Mutation_p.D435N|ABI1_ENST00000346832.5_Missense_Mutation_p.D451N|ABI1_ENST00000376134.3_Missense_Mutation_p.D437N|ABI1_ENST00000376142.2_Missense_Mutation_p.D463N			Q8IZP0	ABI1_HUMAN	abl-interactor 1	463	SH3.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACAGCTCATCATCCTTGTCT	0.348000													11	29					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21422397	21422397	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:21422397C>A	ENST00000313654.9	+	28	3616	c.3375C>A	c.(3373-3375)ggC>ggA	p.G1125G	LAMA3_ENST00000399516.3_Silent_p.G1125G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1125	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACACCTGGGCCGATACGTCT	0.512000													9	69					0.000442599	0.000449327	1	1	0
KRT39	390792	broad.mit.edu	37	17	39120018	39120018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:39120018G>C	ENST00000355612.2	-	3	604	c.569C>G	c.(568-570)tCt>tGt	p.S190C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	190	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGCGTAGAGACACCTCAGC	0.498000													11	50					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70087539	70087539	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:70087539G>A	ENST00000330891.5	-	4	622	c.396C>T	c.(394-396)gtC>gtT	p.V132V	BEST3_ENST00000551160.1_Silent_p.V26V|BEST3_ENST00000553096.1_Silent_p.V26V|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.V26V|BEST3_ENST00000331471.4_Silent_p.V132V|BEST3_ENST00000266661.4_Silent_p.V26V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	132						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTGAGATTGACGTAGCGCA	0.532000													15	81					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12749926	12749926	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:12749926G>A	ENST00000379350.1	+	3	283	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PHACTR1_ENST00000379348.2_Missense_Mutation_p.E52K|PHACTR1_ENST00000332995.7_Missense_Mutation_p.E52K			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	52						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGCATCCTCGGAGGATGATAT	0.642000													6	49					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130080777	130080777	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:130080777C>G	ENST00000223208.4	-	1	301	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	CEP41_ENST00000343969.5_Missense_Mutation_p.E11Q|CEP41_ENST00000489512.1_Missense_Mutation_p.E11Q|CEP41_ENST00000541543.1_Missense_Mutation_p.E11Q|CEP41_ENST00000495702.1_5'UTR	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	11					G2/M transition of mitotic cell cycle	centrosome|cytosol											GCCCTCACCTCAGGGTTCCCA	0.657000													27	115					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845356	107845356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:107845356C>A	ENST00000285311.3	-	4	1240	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	DKK2_ENST00000513208.1_Nonsense_Mutation_p.E79*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.E133*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	179					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGGTCTCCTTCATGCCCTGCA	0.413000													8	52					5.18039e-06	5.33443e-06	1	1	0
ZFP69B	65243	broad.mit.edu	37	1	40928283	40928283	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:40928283C>T	ENST00000411995.2	+	6	1002	c.627C>T	c.(625-627)atC>atT	p.I209I	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.I107I	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		AGGGGCAAATCCCCCTGATGT	0.408000													17	166					0	0	1	0	0
ERP29	10961	broad.mit.edu	37	12	112460445	112460445	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:112460445G>T	ENST00000261735.3	+	3	925	c.775G>T	c.(775-777)Gag>Tag	p.E259*	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Nonsense_Mutation_p.E158*	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	259					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GGCCGAGAAAGAGGAGCTGTA	0.517000													19	138					6.49762e-13	6.84152e-13	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185987340	185987340	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:185987340G>A	ENST00000271588.4	+	34	5555	c.5326G>A	c.(5326-5328)Gat>Aat	p.D1776N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1776N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1776	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGTTAATTGATGAAAGGGA	0.368000													23	80					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27400992	27400992	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:27400992G>A	ENST00000326799.3	-	20	2384	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	YME1L1_ENST00000375972.3_Missense_Mutation_p.L656F|YME1L1_ENST00000376016.3_Missense_Mutation_p.L689F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	746					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTTCTGCGAGATTCTTATGC	0.393000													16	62					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510973	4510973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:4510973C>G	ENST00000307632.3	+	1	865	c.843C>G	c.(841-843)ttC>ttG	p.F281L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGCTATTTTCTATCTCCTTT	0.483000													27	131					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135048700	135048700	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:135048700G>A	ENST00000541284.1	-	11	2076	c.1746C>T	c.(1744-1746)aaC>aaT	p.N582N	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000451834.1_Silent_p.N579N|CNOT4_ENST00000423368.2_Intron	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	262					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGTGGTTGGCGTTGGAGGGGG	0.532000													4	157					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6645054	6645054	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:6645054C>G	ENST00000299441.3	-	21	8264	c.7853G>C	c.(7852-7854)gGa>gCa	p.G2618A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2618	Cadherin 25.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTCAGCTCCAACAGGTGT	0.567000													46	166					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925132	48925132	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:48925132G>A	ENST00000263269.3	+	10	2270	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	728						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CAACTATCCCGACATGCACAG	0.647000													12	187					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52509015	52509015	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:52509015G>A	ENST00000242839.4	-	21	4431	c.4275C>T	c.(4273-4275)gtC>gtT	p.V1425V	ATP7B_ENST00000400366.3_Silent_p.V1314V|ATP7B_ENST00000418097.2_Silent_p.V1360V|ATP7B_ENST00000417240.2_Silent_p.V636V|ATP7B_ENST00000448424.2_Silent_p.V1347V|ATP7B_ENST00000400370.3_Silent_p.V995V|ATP7B_ENST00000344297.5_Silent_p.V1218V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1425					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACACCTGGCTGACATAGCTGA	0.617000									Wilson disease				24	107					0	0	1	0	0
POMZP3	22932	broad.mit.edu	37	7	76254991	76254991	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:76254991C>T	ENST00000310842.4	-	3	759	c.75G>A	c.(73-75)caG>caA	p.Q25Q	UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Silent_p.Q25Q	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418000													39	124					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216296	55216296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:55216296C>T	ENST00000340465.2	+	5	702	c.616C>T	c.(616-618)Cac>Tac	p.H206Y		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	206						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGAAGCTCTTCACAGCAAGAC	0.423000													20	75					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101507142	101507142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:101507142G>A	ENST00000370476.5	+	6	697	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	190					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GCGACTCATTGAGCAGGTACG	0.443000													16	44					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963623	148963623	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:148963623C>T	ENST00000434415.1	+	2	385	c.222C>T	c.(220-222)gcC>gcT	p.A74A		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	74					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGGGACAGCCGAGAAGAAGC	0.642000													7	61					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72071254	72071254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:72071254G>A	ENST00000265381.4	-	8	1919	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	566	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGGGAGTTGGAGCGAGGCAT	0.562000													11	330					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9749698	9749698	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9749698G>C	ENST00000318950.6	+	5	844	c.741G>C	c.(739-741)ctG>ctC	p.L247L	SWAP70_ENST00000447399.2_Silent_p.L189L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	247	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GTGAGGATCTGAAGGATAAGA	0.423000													24	107					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361016	105361016	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:105361016G>C	ENST00000297581.2	+	2	285	c.236G>C	c.(235-237)cGa>cCa	p.R79P	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R79P|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	79					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.R79Q(1)									AAGCATGCACGATGTTTTATT	0.522000													11	65					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168620509	168620509	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:168620509G>A	ENST00000519560.1	-	4	806	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SLIT3_ENST00000332966.8_Silent_p.F129F|SLIT3_ENST00000404867.3_Silent_p.F129F|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	129					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTGCTCTGGAAAAGCAATT	0.493000													13	68					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77944663	77944663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:77944663C>T	ENST00000393684.3	-	7	1247	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ISM2_ENST00000412904.1_Missense_Mutation_p.E293K|ISM2_ENST00000342219.4_Missense_Mutation_p.E374K|ISM2_ENST00000493585.1_Silent_p.L258L|ISM2_ENST00000429906.1_Missense_Mutation_p.E293K			Q6H9L7	ISM2_HUMAN	isthmin 2	374						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCCTTGTCCTCAGTGCCTTTG	0.627000													25	96					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157082177	157082177	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:157082177C>A	ENST00000362010.2	-	8	1559	c.1252G>T	c.(1252-1254)Gca>Tca	p.A418S	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.A418S|VEPH1_ENST00000392832.2_Missense_Mutation_p.A418S|VEPH1_ENST00000392833.2_Missense_Mutation_p.A418S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	418						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGCTCCCTGCATTTATCTTG	0.373000													15	40					2.62699e-14	2.78169e-14	1	1	0
SPRED2	200734	broad.mit.edu	37	2	65540893	65540893	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:65540893C>G	ENST00000356388.4	-	6	1188	c.999G>C	c.(997-999)gtG>gtC	p.V333V	SPRED2_ENST00000443619.2_Silent_p.V330V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	333	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGCAAGTTCTCACGGAGTCGG	0.632000													23	137					0	0	1	0	0
SMIM12	113444	broad.mit.edu	37	1	35321395	35321395	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:35321395G>C	ENST00000521580.2	-	2	328	c.184C>G	c.(184-186)Cta>Gta	p.L62V	SMIM12_ENST00000423898.1_Missense_Mutation_p.L62V|SMIM12_ENST00000417239.1_Missense_Mutation_p.L62V|SMIM12_ENST00000446026.1_Missense_Mutation_p.L62V|SMIM12_ENST00000456842.1_Missense_Mutation_p.L62V	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3			small integral membrane protein 12																		TCCTTGCCTAGAAGCTCATCC	0.547000													2	1					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41235183	41235183	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:41235183G>A	ENST00000263370.2	+	3	1365	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	444						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGGAGCAGCTGATGAAAGACC	0.537000													4	53					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250961	35250961	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35250961G>T	ENST00000329285.7	-	4	1118	c.745C>A	c.(745-747)Cat>Aat	p.H249N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCCCAGTATGAAGCCTCATA	0.483000													34	130					2.42023e-17	2.56858e-17	1	1	0
PIGG	54872	broad.mit.edu	37	4	493170	493170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:493170G>A	ENST00000453061.2	+	1	152	c.46G>A	c.(46-48)Gag>Aag	p.E16K	PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E16K|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E16K|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000509768.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	16					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTAGCGATCGAGGTGCTAGG	0.667000													5	19					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234905030	234905030	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:234905030C>T	ENST00000324695.4	+	22	3040	c.3000C>T	c.(2998-3000)ttC>ttT	p.F1000F	TRPM8_ENST00000433712.2_Silent_p.F578F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1000						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGAGGTACTTCCTGGTGCAGG	0.537000													18	70					0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738853	43738853	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:43738853C>G	ENST00000432792.2	+	4	1030	c.460C>G	c.(460-462)Ctg>Gtg	p.L154V	TMEM125_ENST00000439858.1_Missense_Mutation_p.L154V			Q96AQ2	TM125_HUMAN	transmembrane protein 125	154						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCATTGCTCTGGCTGCCTT	0.687000													7	32					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226975	1226975	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:1226975G>C	ENST00000338555.2	+	15	3046	c.1902G>C	c.(1900-1902)gaG>gaC	p.E634D	SCNN1D_ENST00000379116.5_Missense_Mutation_p.E798D|SCNN1D_ENST00000325425.8_Missense_Mutation_p.E700D|SCNN1D_ENST00000400928.3_Missense_Mutation_p.E634D					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGCCCCTTGAGACTCTGGACA	0.682000													12	54					0	0	1	0	0
ZCRB1	85437	broad.mit.edu	37	12	42707719	42707719	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:42707719C>G	ENST00000266529.3	-	6	586	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	ZCRB1_ENST00000552673.1_Missense_Mutation_p.E94Q|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	135	Poly-Lys.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTCTTTTTTTCTTTCTTCTTT	0.338000													5	30					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18057546	18057546	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:18057546G>C	ENST00000250018.2	-	2	823	c.261C>G	c.(259-261)ctC>ctG	p.L87L	TPH1_ENST00000341556.2_Silent_p.L87L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	87	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GATTCACAGAGAGAACATTGG	0.333000													5	41					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931376	144931376	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:144931376C>T	ENST00000529945.1	-	1	772	c.333G>A	c.(331-333)ggG>ggA	p.G111G	PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Silent_p.G111G|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCGTCCCATTCCCCGCCTTGA	0.532000			T	PDGFRB	MPD								22	266					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121740432	121740432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:121740432C>G	ENST00000452319.1	+	11	1719	c.1659C>G	c.(1657-1659)caC>caG	p.H553Q	GLI2_ENST00000314490.11_Missense_Mutation_p.H225Q|GLI2_ENST00000361492.4_Missense_Mutation_p.H553Q|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	553					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCGCCAAGCACCAGAATCGCA	0.622000													16	65					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848984	117848984	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:117848984C>T	ENST00000350763.4	-	3	1437	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	TNC_ENST00000340094.3_Silent_p.G342G|TNC_ENST00000346706.3_Silent_p.G342G|TNC_ENST00000423613.2_Silent_p.G342G|TNC_ENST00000345230.3_Silent_p.G342G|TNC_ENST00000341037.4_Silent_p.G342G|TNC_ENST00000537320.1_Silent_p.G342G|TNC_ENST00000535648.1_Silent_p.G342G|TNC_ENST00000542877.1_Silent_p.G342G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	342	EGF-like 6.|EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGTGGGTTTCCCGCAGTCTT	0.607000													11	75					0	0	1	0	0
EMP3	2014	broad.mit.edu	37	19	48832733	48832733	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:48832733C>G	ENST00000270221.6	+	4	607	c.306C>G	c.(304-306)ctC>ctG	p.L102L	EMP3_ENST00000596315.1_Silent_p.L33L|EMP3_ENST00000597279.1_Silent_p.L102L	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	102					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCACCGGCCTCTGCCAGCTTT	0.572000													15	114					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128354930	128354930	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:128354930G>C	ENST00000392668.3	-	7	718	c.650C>G	c.(649-651)tCg>tGg	p.S217W	ETS1_ENST00000345075.4_Missense_Mutation_p.S173W|ETS1_ENST00000531611.1_Missense_Mutation_p.S173W|ETS1_ENST00000526145.1_Missense_Mutation_p.S173W|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.S173W	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	173					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGAGAACTCCGATGGTGGAAC	0.483000													18	171					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29520610	29520610	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:29520610G>C	ENST00000373791.3	-	10	1190	c.818C>G	c.(817-819)cCg>cGg	p.P273R	MECR_ENST00000263702.6_Missense_Mutation_p.P349R	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	349					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GTCCTGCAGCGGGACCTGGGA	0.567000													34	139					0	0	1	0	0
ZNF322	79692	broad.mit.edu	37	6	26637713	26637713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:26637713C>G	ENST00000415922.2	-	4	1714	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H	ZNF322_ENST00000471278.1_Missense_Mutation_p.D357H	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										AAGCTTTTATCACATACAGTG	0.428000													21	107					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167868766	167868766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:167868766C>G	ENST00000367848.1	-	6	758	c.261G>C	c.(259-261)caG>caC	p.Q87H	ADCY10_ENST00000545172.1_Missense_Mutation_p.Q26H|ADCY10_ENST00000367851.4_Missense_Mutation_p.Q179H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	179	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGCCATGTTCTGGGCAAGGC	0.507000													8	30					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89799803	89799803	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:89799803G>C	ENST00000289816.5	+	7	1350	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	ZNF276_ENST00000446326.2_Missense_Mutation_p.K207N|ZNF276_ENST00000568064.1_Missense_Mutation_p.K329N|ZNF276_ENST00000443381.2_Missense_Mutation_p.K421N	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GATGGAAGAAGAAGCTTCGTT	0.552000													55	235					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203839200	203839200	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:203839200C>G	ENST00000320443.8	+	12	2518	c.1475C>G	c.(1474-1476)tCa>tGa	p.S492*	CARF_ENST00000438828.2_Nonsense_Mutation_p.S492*|CARF_ENST00000428585.1_Nonsense_Mutation_p.S416*|CARF_ENST00000402905.2_Nonsense_Mutation_p.S492*|CARF_ENST00000545262.1_Nonsense_Mutation_p.S416*|CARF_ENST00000414439.1_Nonsense_Mutation_p.S390*|CARF_ENST00000545253.1_Nonsense_Mutation_p.S404*|WDR12_ENST00000477723.1_Intron					calcium responsive transcription factor																		GTATATAACTCAGAGATTATT	0.308000													15	59					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116946585	116946585	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:116946585C>A	ENST00000537345.1	+	22	3394	c.3031C>A	c.(3031-3033)Cga>Aga	p.R1011R	ATP1A1_ENST00000295598.5_Silent_p.R1011R|ATP1A1_ENST00000369496.4_Silent_p.R980R	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	1011					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	p.R1011*(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CATCATCAGGCGACGCCCTGG	0.483000													28	80					7.26314e-15	7.69959e-15	1	1	0
TARSL2	123283	broad.mit.edu	37	15	102242581	102242581	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:102242581G>C	ENST00000335968.3	-	9	1298	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	361					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAATATGTTGAGGAATTCTA	0.338000													10	53					0	0	1	0	0
ZMYND19	116225	broad.mit.edu	37	9	140482182	140482182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:140482182G>A	ENST00000298585.2	-	3	431	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	69						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCAGCTCATGAAGGAGTCTC	0.597000													33	162					0	0	1	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219347232	219347232	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:219347232G>A	ENST00000366928.5	+	0	47				LYPLAL1_ENST00000366927.3_De_novo_Start_InFrame|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1							cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGGCATCAGCGATGGCGGCTG	0.692000													8	68					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760058	54760058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:54760058G>A	ENST00000450632.1	-	4	553	c.476C>T	c.(475-477)tCa>tTa	p.S159L	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Missense_Mutation_p.S168L|LILRB5_ENST00000316219.5_Missense_Mutation_p.S168L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	168	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCTTCTGTGAGTACAGGGT	0.547000													23	93					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225454	192225454	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:192225454C>T	ENST00000392318.3	+	8	907	c.661_splice	c.e8+1	p.L220_splice	MYO1B_ENST00000392316.1_Splice_Site_p.L220_splice|MYO1B_ENST00000339514.4_Splice_Site_p.L220_splice|MYO1B_ENST00000304164.4_Splice_Site_p.L220_splice	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	220	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAGAGCTCCTCAGTAAGTCTC	0.453000													26	72					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22706012	22706012	+	RNA	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:22706012G>A	ENST00000314246.8	-	0	1750																											CCCACTCACTGATGGCATCCC	0.587000													44	161					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223497946	223497946	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:223497946G>A	ENST00000281828.6	-	7	950	c.687C>T	c.(685-687)gtC>gtT	p.V229V	FARSB_ENST00000536361.1_Silent_p.V130V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	229					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGAAAGGACGACACCATTGC	0.343000													5	85					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975451	7975451	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975451C>A	ENST00000545011.1	+	5	752	c.687C>A	c.(685-687)atC>atA	p.I229I	MAP2K7_ENST00000397981.3_Silent_p.I187I|MAP2K7_ENST00000397979.3_Silent_p.I187I|MAP2K7_ENST00000397983.3_Silent_p.I203I			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	187	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGACGTTCATCACCAACGTGA	0.632000													13	41					4.36969e-10	4.56498e-10	1	1	0
C3orf62	375341	broad.mit.edu	37	3	49314082	49314082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:49314082G>A	ENST00000343010.3	-	1	1260	c.224C>T	c.(223-225)tCt>tTt	p.S75F		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	75										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGAGCAGCAGAAGAGCAGGC	0.587000													22	85					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125780896	125780896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:125780896G>A	ENST00000346248.5	-	6	1865	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	CHST15_ENST00000421115.1_Missense_Mutation_p.S408L|CHST15_ENST00000435907.1_Missense_Mutation_p.S408L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	408					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGATTTATTCGAACTTGCAAA	0.423000													7	28					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47404207	47404207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:47404207C>G	ENST00000285039.7	-	25	3621	c.3322G>C	c.(3322-3324)Gaa>Caa	p.E1108Q	MYO5B_ENST00000324581.6_Missense_Mutation_p.E249Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1108					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCAGATTCTAAGCTACTT	0.468000													6	128					0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470617	67470617	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:67470617C>T	ENST00000326152.5	+	5	1061	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	310					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	TTCCTGCACTCGCTACGCCTG	0.627000													19	129					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44936400	44936400	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:44936400G>A	ENST00000588931.1	-	5	668	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CAATTACCCAGAGGATTCCTC	0.438000													14	106					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61899169	61899169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:61899169C>T	ENST00000427159.2	-	15	2155	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	504					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCTCCTCCTCCTCTTTATCA	0.527000													19	154					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90335531	90335531	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:90335531G>C	ENST00000300060.6	-	18	2701	c.2388C>G	c.(2386-2388)gtC>gtG	p.V796V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	796	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGTTGCAGTAGACGGTGGACC	0.647000													31	170					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86921183	86921183	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:86921183G>C	ENST00000370565.4	+	14	2967	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	935					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAGCAGACAAGAAAGAGAATG	0.323000													9	61					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116353612	116353612	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:116353612G>A	ENST00000374140.2	+	22	3224		c.e22-1		RGS3_ENST00000343817.5_Splice_Site|RGS3_ENST00000462143.1_Splice_Site|RGS3_ENST00000350696.5_Splice_Site|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Splice_Site|RGS3_ENST00000374134.3_Splice_Site	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCTCCGCAGATGAGCGGGG	0.572000													7	54					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857709	90857709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:90857709C>T	ENST00000394980.1	+	7	3197	c.2878C>T	c.(2878-2880)Cag>Tag	p.Q960*	MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Q702*|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Q960*			Q13201	MMRN1_HUMAN	multimerin 1	960					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAACTTCTTCAGAAAGGTCT	0.368000													17	65					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25274966	25274966	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:25274966C>G	ENST00000218548.6	+	13	2138	c.1805C>G	c.(1804-1806)tCc>tGc	p.S602C	ATP12A_ENST00000381946.3_Missense_Mutation_p.S596C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	596					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTTCCGACCTCCAACCTCTGT	0.493000													21	62					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38537876	38537876	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:38537876C>T	ENST00000287675.5	+	1	114	c.18C>T	c.(16-18)atC>atT	p.I6I	EXOG_ENST00000422077.2_Silent_p.I6I|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	6						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCAAGAGTATCGCTTCCCGCC	0.687000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	50					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031885	104031885	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:104031885C>G	ENST00000388887.2	+	8	1005	c.801C>G	c.(799-801)ggC>ggG	p.G267G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	267	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCCAAGAAGGCTACCGTGGGG	0.498000													9	97					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3746521	3746521	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:3746521C>G	ENST00000541714.2	+	17	2511	c.2049C>G	c.(2047-2049)atC>atG	p.I683M	TJP3_ENST00000587686.1_Missense_Mutation_p.I702M|TJP3_ENST00000382008.3_Missense_Mutation_p.I697M|TJP3_ENST00000262968.9_Missense_Mutation_p.I716M|TJP3_ENST00000539908.2_Missense_Mutation_p.I647M|TJP3_ENST00000589378.1_Missense_Mutation_p.I692M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	697	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGCCATCGAGCGCCTCA	0.637000													7	64					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906894	42906894	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:42906894C>G	ENST00000422265.1	+	3	1075	c.900C>G	c.(898-900)atC>atG	p.I300M	ACKR2_ENST00000273145.2_Missense_Mutation_p.I300M|ACKR2_ENST00000442925.1_Missense_Mutation_p.I300M|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		CAGAGAGCATCGCCTTCCTTC	0.547000													10	254					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24445643	24445643	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:24445643C>G	ENST00000383168.4	-	1	139	c.11G>C	c.(10-12)aGa>aCa	p.R4T	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	4					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGCTGTGGGTCTGTCACTCAT	0.527000													10	122					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556164	35556164	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35556164G>A	ENST00000262626.2	+	10	1647	c.822G>A	c.(820-822)caG>caA	p.Q274Q	HPN_ENST00000597419.1_Silent_p.Q116Q|HPN_ENST00000392226.1_Silent_p.Q274Q|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	274	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AATACATCCAGCCTGTGTGCC	0.612000													5	45					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609913	105609913	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105609913G>A	ENST00000331782.3	-	25	3550	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	JAG2_ENST00000347004.2_Silent_p.I1011I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1049					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGGCGGCCACGATGGCGTGGG	0.657000													5	14					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99091605	99091605	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99091605C>T	ENST00000337673.6	-	3	1436	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	411					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTACGGCTTCTCGCCTGTGT	0.498000													10	51					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479958	130479958	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:130479958C>T	ENST00000373289.3	+	4	413	c.333C>T	c.(331-333)ttC>ttT	p.F111F	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	111							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTGTGACTTCTCCTCGGCCG	0.607000													17	70					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064368	128064368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:128064368G>A	ENST00000470056.1	+	3	452	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	GAPVD1_ENST00000394105.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E98K|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E98K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E98K|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E98K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E98K|GAPVD1_ENST00000394084.1_Missense_Mutation_p.E98K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E98K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	98					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCTTATGGAGAATTCTTGAG	0.408000													16	103					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24705276	24705276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:24705276G>A	ENST00000396475.2	+	8	1152	c.853G>A	c.(853-855)Gca>Aca	p.A285T	MPP6_ENST00000409761.1_Missense_Mutation_p.A173T|MPP6_ENST00000222644.4_Missense_Mutation_p.A285T	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	285					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GAAGAGAAAGGCATTTGTTAG	0.418000													4	45					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77710960	77710960	+	Missense_Mutation	SNP	G	G	C	rs147161136		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:77710960G>C	ENST00000328313.5	+	4	1368	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	383					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCCTTTGAGAGCGTCCA	0.622000													18	60					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465732	241465732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:241465732C>T	ENST00000391987.1	-	6	1183	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.E362K|ANKMY1_ENST00000272972.3_Missense_Mutation_p.E273K|ANKMY1_ENST00000373318.2_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	273							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CAAATCCATTCGTGGTTCCCT	0.572000													13	50					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146952	154146952	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:154146952G>A	ENST00000389740.2	-	1	552	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	151						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCACCACGCCGAGCACCTGGC	0.642000													4	59					0	0	1	0	0
FKBP7	51661	broad.mit.edu	37	2	179334402	179334402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179334402C>T	ENST00000424785.2	-	3	542	c.484G>A	c.(484-486)Gac>Aac	p.D162N	FKBP7_ENST00000464248.1_Intron|FKBP7_ENST00000434643.2_Missense_Mutation_p.D161N	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	199	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGCTGCCTGTCATTGTCCATG	0.358000													11	140					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15367072	15367072	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:15367072G>C	ENST00000263377.2	-	9	1775	c.1554C>G	c.(1552-1554)ctC>ctG	p.L518L	BRD4_ENST00000360016.5_Silent_p.L518L|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Silent_p.L518L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	518					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCACGGCTTTGAGCTGTAGAC	0.507000			T	C15orf55	lethal midline carcinoma of young people								24	126					0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131882881	131882881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:131882881C>T	ENST00000337738.1	+	2	388	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	PPP2R4_ENST00000358994.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.R41C|PPP2R4_ENST00000357197.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.R41C|PPP2R4_ENST00000348141.5_Missense_Mutation_p.R41C|PPP2R4_ENST00000347048.4_Missense_Mutation_p.R41C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.R41C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	41					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAAATGGAAGCGTTCTCAGGT	0.483000													8	49					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415581	86415581	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:86415581C>A	ENST00000361669.2	+	3	1572	c.473C>A	c.(472-474)gCa>gAa	p.A158E	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A156E|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A158E|GRM3_ENST00000536043.1_Missense_Mutation_p.A30E|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	158					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCTAGGTGGCAAACCTGCTG	0.507000													34	163					6.90743e-12	7.24853e-12	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068053	57068053	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57068053G>C	ENST00000532437.1	-	10	5462	c.5151C>G	c.(5149-5151)aaC>aaG	p.N1717K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.N1717K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1717	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTTGAAGCCAGTTGGGCGACG	0.527000													20	69					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170156486	170156486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:170156486C>G	ENST00000366773.3	+	4	401	c.368C>G	c.(367-369)tCt>tGt	p.S123C	C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000366772.2_Missense_Mutation_p.S123C|C6orf70_ENST00000392095.4_5'UTR|C6orf70_ENST00000418781.3_Missense_Mutation_p.S123C	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	CF070_HUMAN		123						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CCTGCTATTTCTCTTAGCTTA	0.348000													13	58					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28493761	28493761	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:28493761G>C	ENST00000261609.7	-	21	3280	c.3172C>G	c.(3172-3174)Caa>Gaa	p.Q1058E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1058					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAAACGTTGAAAACGCAGT	0.383000													12	20					0	0	1	0	0
MED29	55588	broad.mit.edu	37	19	39888208	39888208	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:39888208C>T	ENST00000315588.5	+	4	584	c.535C>T	c.(535-537)Cca>Tca	p.P179S	MED29_ENST00000599213.2_Missense_Mutation_p.P158S|MED29_ENST00000594368.1_Silent_p.T134T	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCCCCTACCCACAGTACCT	0.602000											OREG0025460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	41					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95390474	95390474	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:95390474C>T	ENST00000336148.5	-	14	2573	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTGAACTTTCATGTAATGTG	0.358000								Direct reversal of damage;Homologous recombination					4	10					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39233871	39233871	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:39233871C>A	ENST00000399820.3	+	19	2386	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S584R	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	744					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGCATCCAGCTGTCCTATTG	0.463000													24	151					4.87955e-14	5.14942e-14	1	1	0
ZNF565	147929	broad.mit.edu	37	19	36673814	36673814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673814G>A	ENST00000355114.5	-	5	1900	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZNF565_ENST00000304116.5_Nonsense_Mutation_p.R352*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.R352*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTTTGATGTCGAGTAACTTCT	0.493000													17	67					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138874099	138874099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:138874099G>C	ENST00000464848.1	+	18	1666	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	TTC26_ENST00000495038.1_Missense_Mutation_p.R398T|TTC26_ENST00000343187.4_Missense_Mutation_p.R498T|TTC26_ENST00000430935.1_Missense_Mutation_p.E484D|TTC26_ENST00000478836.2_Missense_Mutation_p.R422T			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	529							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CATTTACTGAGAAGCACAGGT	0.383000													20	148					0	0	1	0	0
WBP1	23559	broad.mit.edu	37	2	74687791	74687791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:74687791G>A	ENST00000393972.3	+	5	1098	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	WBP1_ENST00000409737.1_Missense_Mutation_p.E262K|WBP1_ENST00000233615.2_Missense_Mutation_p.E265K|WBP1_ENST00000494741.1_3'UTR			Q96G27	WBP1_HUMAN	WW domain binding protein 1	265							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTCTTCCAGTGAAGGGGACAT	0.567000													4	32					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73609192	73609192	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:73609192C>T	ENST00000265753.8	+	6	730	c.591C>T	c.(589-591)ttC>ttT	p.F197F	EIF4H_ENST00000353999.6_Silent_p.F177F	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	197					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						ACATGGATTTCAGAGAACCCA	0.632000													14	41					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089148	12089148	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12089148C>G	ENST00000343949.5	+	4	573	c.418C>G	c.(418-420)Cag>Gag	p.Q140E	ZNF763_ENST00000590798.1_Missense_Mutation_p.Q157E|ZNF763_ENST00000545530.1_Missense_Mutation_p.Q15E|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q157E|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q137E|ZNF763_ENST00000592625.1_3'UTR	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATACGAGTATCAGGACTATGC	0.403000													48	172					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37368770	37368770	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:37368770G>C	ENST00000233057.4	-	5	637	c.315C>G	c.(313-315)atC>atG	p.I105M	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.I105M|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.I105M	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	105	DRBM 2.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CAATTCTATTGATAAGGCCTA	0.373000													7	93					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229750160	229750160	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:229750160C>G	ENST00000366675.3	-	2	158	c.70G>C	c.(70-72)Gac>Cac	p.D24H	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Missense_Mutation_p.D24H|TAF5L_ENST00000366674.1_Missense_Mutation_p.D24H|TAF5L_ENST00000366676.1_Missense_Mutation_p.D24H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	24					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CCATCTGAGTCCACGTACTGC	0.567000													15	69					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457229	110457229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:110457229G>C	ENST00000378402.5	+	38	5235	c.5131G>C	c.(5131-5133)Gaa>Caa	p.E1711Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1711	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACGGCCATTGAATGTGAAAC	0.448000										HNSCC(38;0.096)			40	173					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131498	202131498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202131498C>G	ENST00000358485.4	+	2	662	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E	CASP8_ENST00000323492.7_Missense_Mutation_p.Q97E|CASP8_ENST00000264274.9_Missense_Mutation_p.Q97E|CASP8_ENST00000264275.5_Missense_Mutation_p.Q97E|CASP8_ENST00000432109.2_Missense_Mutation_p.Q97E|CASP8_ENST00000392266.3_Missense_Mutation_p.Q97E|CASP8_ENST00000392258.3_Missense_Mutation_p.Q97E|CASP8_ENST00000392259.2_Missense_Mutation_p.Q97E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	97	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCAGGGCTCAAATTTCTGC	0.488000										HNSCC(4;0.00038)			7	29					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68404995	68404995	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:68404995C>G	ENST00000219334.5	-	3	1693	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	SMPD3_ENST00000563226.1_Missense_Mutation_p.E364Q|SMPD3_ENST00000568373.1_Missense_Mutation_p.E364Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	364					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TCAAACACCTCCTGCAGGCAC	0.622000													13	60					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156753273	156753273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:156753273G>A	ENST00000347377.6	+	18	2508	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	CYFIP2_ENST00000521420.1_Missense_Mutation_p.E667K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E497K|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E618K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E693K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E392K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E718K|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	718					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATAGAAGCTGAGGCAAGTGA	0.433000													19	92					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	396931	396931	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:396931G>A	ENST00000432829.2	+	25	3229	c.2913G>A	c.(2911-2913)caG>caA	p.Q971Q	DOCK8_ENST00000453981.1_Silent_p.Q1039Q|DOCK8_ENST00000469391.1_Silent_p.Q939Q|DOCK8_ENST00000382331.1_Silent_p.Q341Q|DOCK8_ENST00000382329.1_Silent_p.Q506Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1039					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAAACCACAGAAGGTAACtg	0.318000													15	47					0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53138357	53138357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:53138357C>T	ENST00000395686.3	-	6	722	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	167					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CCATCAGCTTCACAGAAGTTA	0.294000													5	21					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112359528	112359528	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:112359528G>C	ENST00000361804.4	+	21	2511	c.2385G>C	c.(2383-2385)aaG>aaC	p.K795N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	795					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGATCAGAAGAGAGTAGATG	0.423000													12	54					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247012940	247012940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:247012940G>A	ENST00000366508.1	-	33	6609	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S2132L|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S2123L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2123	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAACTTCTGACGCTGGAGA	0.413000													23	80					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49379229	49379229	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:49379229G>A	ENST00000200453.5	+	3	2293	c.2024G>A	c.(2023-2025)tGa>tAa	p.*675*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	0					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.*675S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AGGCGTGGCTGAGACCAACTG	0.507000													29	128					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134106	114134106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:114134106G>A	ENST00000259335.4	-	44	5065	c.5066C>T	c.(5065-5067)tCc>tTc	p.S1689F	KIAA0368_ENST00000338205.5_Missense_Mutation_p.S1511F|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCACCAAAGGATCCTAGGAA	0.378000													10	57					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84711271	84711271	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:84711271C>T	ENST00000372142.2	+	6	712	c.438C>T	c.(436-438)atC>atT	p.I146I	NRG3_ENST00000537893.1_Silent_p.I17I|NRG3_ENST00000404547.1_Silent_p.I367I|NRG3_ENST00000404576.2_Silent_p.I171I|NRG3_ENST00000545131.1_Silent_p.I17I|NRG3_ENST00000372141.2_Silent_p.I367I|NRG3_ENST00000556918.1_Silent_p.I197I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	367	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTCATGTATCATCTTTGGAA	0.378000													15	84					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11898422	11898422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:11898422G>A	ENST00000346436.6	+	21	2378	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.E776K|CLCN6_ENST00000376487.3_Missense_Mutation_p.E754K	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	776					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTATGCCGAGATGGCCGA	0.662000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	59					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87464814	87464814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:87464814G>A	ENST00000517970.1	+	21	2607	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	WWP1_ENST00000349423.2_Missense_Mutation_p.R549Q|WWP1_ENST00000341922.2_Missense_Mutation_p.R637Q|WWP1_ENST00000265428.4_Missense_Mutation_p.R767Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	767	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CGTTTTTCTCGAGGAGTACAA	0.328000													7	55					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148388505	148388505	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:148388505G>A	ENST00000538184.1	-	11	2916	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	SH3TC2_ENST00000512049.1_Silent_p.F1122F|SH3TC2_ENST00000515425.1_Silent_p.F1129F			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1129							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCTTATTGAAAATCCGGA	0.527000													32	127					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78286925	78286925	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:78286925C>T	ENST00000582970.1	+	15	2912	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	RNF213_ENST00000508628.2_Silent_p.L972L|RNF213_ENST00000319921.4_Silent_p.L923L|RNF213_ENST00000456466.1_Silent_p.L923L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	923										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAACATGCTCACATCTTCAG	0.463000													21	99					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296379	145296379	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:145296379T>G	ENST00000342960.5	+	3	336	c.301T>G	c.(301-303)Tct>Gct	p.S101A	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	101										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTAGTTCACTCTCAGGAACG	0.483000													8	291					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786323	35786323	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35786323C>G	ENST00000361922.4	+	3	162	c.12C>G	c.(10-12)ctC>ctG	p.L4L	MAG_ENST00000597035.1_Silent_p.L4L|MAG_ENST00000537831.2_Intron|MAG_ENST00000392213.3_Silent_p.L4L	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	4					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGATATTCCTCACGGCACTGC	0.552000													68	395					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104481099	104481099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104481099C>T	ENST00000409874.4	+	21	2192	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	TDRD9_ENST00000339063.5_Missense_Mutation_p.S715L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	715					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACTAGAATCTCACAGTTCAAC	0.388000													13	83					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47874031	47874031	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:47874031T>A	ENST00000396105.1	-	8	2833	c.2587A>T	c.(2587-2589)Atg>Ttg	p.M863L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.M863L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.M863L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	863							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAGAAGCATTTTAGCCAAC	0.562000													17	71					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160481615	160481615	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:160481615A>G	ENST00000356956.1	+	23	3276	c.3128A>G	c.(3127-3129)aAt>aGt	p.N1043S		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1043					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTTGTTTGCAATGATGATGTT	0.473000													18	86					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39901263	39901263	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:39901263C>T	ENST00000564288.1	+	70	18595	c.17818C>T	c.(17818-17820)Cat>Tat	p.H5940Y	MACF1_ENST00000567887.1_Missense_Mutation_p.H5977Y|MACF1_ENST00000289893.4_Missense_Mutation_p.H4380Y|MACF1_ENST00000317713.7_Missense_Mutation_p.H3878Y|MACF1_ENST00000545844.1_Missense_Mutation_p.H3878Y|MACF1_ENST00000372915.3_Missense_Mutation_p.H5836Y|MACF1_ENST00000361689.2_Missense_Mutation_p.H3878Y|MACF1_ENST00000539005.1_Missense_Mutation_p.H3748Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5937					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)			ACACAAACCTCATATTGACAA	0.328000													14	63					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628433	71628433	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:71628433C>T	ENST00000377276.2	-	1	606	c.576G>A	c.(574-576)gtG>gtA	p.V192V		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	192	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCGGCCCTTCACGCGCTTGG	0.627000													4	45					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150845	128150845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:128150845G>A	ENST00000368250.1	-	4	746	c.248C>T	c.(247-249)tCa>tTa	p.S83L	THEMIS_ENST00000368248.2_Missense_Mutation_p.S162L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S127L|THEMIS_ENST00000543064.1_Missense_Mutation_p.S162L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	162	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAAATTAAATGAGTGAGTTTG	0.383000													14	81					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71716366	71716366	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:71716366C>A	ENST00000393695.3	-	23	6073	c.5742G>T	c.(5740-5742)ctG>ctT	p.L1914L	NUMA1_ENST00000358965.6_Silent_p.L1900L|NUMA1_ENST00000351960.6_Silent_p.L778L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1914					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCAGTCATCCAGCTGCTCAG	0.597000			T	RARA	APL								15	66					3.41278e-10	3.5693e-10	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16953709	16953709	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:16953709C>T	ENST00000412962.1	-	0	552																											TGGCGCGGCTCAGCGCCTCCC	0.642000													6	61					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289578	33289578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33289578G>A	ENST00000374542.5	-	2	329	c.125C>T	c.(124-126)tCt>tTt	p.S42F	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.S42F|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	42	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ATGAGGCTCAGAGGAGCTAGG	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								6	300					0	0	1	0	0
MED11	400569	broad.mit.edu	37	17	4635168	4635168	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4635168G>A	ENST00000293777.5	+	2	239	c.183G>A	c.(181-183)gcG>gcA	p.A61A	MED11_ENST00000573708.1_Silent_p.A61A|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Silent_p.A61A	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	61					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						ACGTGGAGGCGGAGCTGTCAG	0.597000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26818867	26818867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:26818867C>T	ENST00000381340.3	-	14	1943	c.1527G>A	c.(1525-1527)atG>atA	p.M509I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	509	Inositol-1,4,5-triphosphate binding (By similarity).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTGTTCCCTCATCAATTTTT	0.348000													11	46					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42998051	42998051	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:42998051C>G	ENST00000252115.5	-	3	566	c.462G>C	c.(460-462)caG>caC	p.Q154H	POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	154					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCATGGCTTTCTGCTGTGGAA	0.502000													15	80					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6697276	6697276	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:6697276G>A	ENST00000377577.5	-	14	1629	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	DNAJC11_ENST00000294401.7_Silent_p.I450I|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.I412I|DNAJC11_ENST00000542246.1_Silent_p.I464I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	502					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCGTGAGGATGAGCTTCG	0.552000													13	72					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949573	198949573	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:198949573C>G	ENST00000428675.1	+	2	1730	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L	PLCL1_ENST00000437704.2_Silent_p.L346L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	444	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L346L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCGTTGAACTCGATGTAAGTG	0.398000													11	35					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1214110G>A	ENST00000304460.10	+	6	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	273					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACGCGGGCGCACAGGTCTT	0.647000													21	95					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64436735	64436735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:64436735G>A	ENST00000355086.3	+	5	1179	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E219K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E179K|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	219					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAAGAAAATTGAAAAAATGAA	0.388000													7	33					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93711270	93711270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:93711270G>A	ENST00000265990.6	+	5	819	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	171					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTTTTCAATGATGAGGATTT	0.363000													5	119					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028873	37028873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:37028873C>G	ENST00000358047.3	+	1	2442	c.2390C>G	c.(2389-2391)tCc>tGc	p.S797C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	797										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTCGAGTGTCCAGTCTCCGC	0.607000													3	36					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12172706	12172706	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:12172706C>G	ENST00000566228.1	+	11	1405	c.1336C>G	c.(1336-1338)Cca>Gca	p.P446A	SNX29_ENST00000323433.4_Missense_Mutation_p.P61A|SNX29_ENST00000306030.3_Missense_Mutation_p.P61A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	61					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGCCAGCTCTCCAGGCCACGG	0.537000													4	10					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684409	100684409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100684409G>A	ENST00000306151.4	+	3	9776	c.9712G>A	c.(9712-9714)Gag>Aag	p.E3238K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3238	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAT	0.493000													90	397					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155001821	155001821	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:155001821G>A	ENST00000368424.3	-	8	1288	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	DCST2_ENST00000295536.5_Silent_p.F410F	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	410						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGATAAGGTTGAAGGTCTCCA	0.552000													20	110					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29631880	29631880	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:29631880G>A	ENST00000323874.8	+	18	2870	c.2760G>A	c.(2758-2760)gtG>gtA	p.V920V	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Silent_p.V920V|PTPRU_ENST00000356870.3_Silent_p.V920V|PTPRU_ENST00000428026.2_Silent_p.V920V|PTPRU_ENST00000460170.2_Silent_p.V920V|PTPRU_ENST00000345512.3_Silent_p.V930V			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	930	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGCACCGAGTGAAACTGCACC	0.577000													21	89					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202407120	202407120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:202407120C>T	ENST00000406302.3	+	10	1579	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R476W|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R476W|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	476					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCAAGCCCTCGGATTTCTGC	0.473000													27	84					0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2922011	2922011	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:2922011G>C	ENST00000228799.2	+	1	224	c.85G>C	c.(85-87)Gat>Cat	p.D29H	RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	29										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGGAGACGTTGATAACGATAC	0.627000													23	111					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137323468	137323468	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:137323468C>G	ENST00000367748.1	-	6	1142	c.556G>C	c.(556-558)Gac>Cac	p.D186H	IL20RA_ENST00000541547.1_Missense_Mutation_p.D248H|IL20RA_ENST00000316649.5_Missense_Mutation_p.D297H			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	297	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AATCTTTTGTCAAATTCATTT	0.303000													9	38					0	0	1	0	0
GTPBP8	29083	broad.mit.edu	37	3	112709965	112709965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:112709965C>T	ENST00000383677.3	+	1	134	c.119C>T	c.(118-120)cCg>cTg	p.P40L	GTPBP8_ENST00000383678.2_Missense_Mutation_p.P40L	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	40					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CTGCGGCTGCCGAAGCAGCAG	0.597000													8	51					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1075524	1075524	+	Silent	SNP	G	G	A	rs137990661	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1075524G>A	ENST00000264930.5	-	15	1972	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	643					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCAGCGATGAGCATGGCGG	0.637000													11	53					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52824845	52824845	+	Missense_Mutation	SNP	G	G	A	rs144224070	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:52824845G>A	ENST00000273283.2	+	20	2426	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ITIH1_ENST00000540715.1_Missense_Mutation_p.R659Q|ITIH1_ENST00000537050.1_Missense_Mutation_p.R513Q|ITIH1_ENST00000405128.3_Missense_Mutation_p.R167Q|ITIH1_ENST00000542827.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTTGCACCGAGTGTGGAAG	0.607000													42	177					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67843965	67843965	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:67843965G>A	ENST00000255674.6	-	11	1708	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	RTTN_ENST00000454359.1_Silent_p.I474I|RTTN_ENST00000437017.1_Silent_p.I474I	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	474							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGAAATGCTGATAAAGGCCA	0.453000													26	90					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116443107	116443107	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:116443107C>G	ENST00000327673.4	-	2	579	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.E58Q			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	58	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTACCTTGCTCTCCTCTTACT	0.517000													24	128					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17983900	17983900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:17983900G>A	ENST00000262608.8	+	6	599	c.599G>A	c.(598-600)gGt>gAt	p.G200D	CECR2_ENST00000400573.4_Missense_Mutation_p.G219D|CECR2_ENST00000342247.5_Missense_Mutation_p.G199D|CECR2_ENST00000400585.2_Missense_Mutation_p.G78D	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	241					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCCAAGGTACTTGGTGG	0.498000													7	82					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118451886	118451886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:118451886G>C	ENST00000311085.8	+	7	678	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E200Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	200										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)		GTATAATGTAGAAAACTGGCG	0.358000													11	43					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122432775	122432775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:122432775C>T	ENST00000474629.2	+	11	4092	c.3826C>T	c.(3826-3828)Cag>Tag	p.Q1276*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1276	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAATGTTCTCAGCAAGGTAA	0.398000													12	68					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238058	126238058	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:126238058C>T	ENST00000394329.3	+	1	505	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	164	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCGGACATCGGCTCAAACG	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088400	94088400	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:94088400G>C	ENST00000553484.1	+	31	5041	c.4887G>C	c.(4885-4887)ctG>ctC	p.L1629L	UNC79_ENST00000256339.4_Silent_p.L1430L|UNC79_ENST00000555664.1_Silent_p.L1607L|UNC79_ENST00000393151.2_Silent_p.L1607L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607						integral to membrane		p.L1430L(1)|p.L1629L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTAGATCTGATAGATCTAT	0.473000													20	83					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362664	10362664	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:10362664G>A	ENST00000255381.2	-	15	1601	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCCAGCACGAACATGTGGT	0.483000													20	112					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018259	61018259	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:61018259G>A	ENST00000406396.3	-	6	862	c.471C>T	c.(469-471)atC>atT	p.I157I	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	157					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						TCATGGTGGTGATCACGGCCC	0.557000													18	94					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37902275	37902275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:37902275G>A	ENST00000403299.1	-	8	1523	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	CARD10_ENST00000251973.5_Missense_Mutation_p.T436M|CARD10_ENST00000406271.3_Missense_Mutation_p.T150M			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	436					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCTGGTGAGCGTTGTCAGCAG	0.642000													9	26					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104205305	104205305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:104205305C>T	ENST00000202556.9	-	13	2930	c.2648G>A	c.(2647-2649)aGa>aAa	p.R883K	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.R302K	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	883					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AAACCGGACTCTCAGCCCGTG	0.577000													29	131					0	0	1	0	0
STX12	23673	broad.mit.edu	37	1	28120102	28120102	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:28120102G>C	ENST00000373943.4	+	3	372	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	83					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGCTGAAAGAATTAGGGTC	0.388000													9	36					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1471018	1471018	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:1471018C>G	ENST00000308219.9	+	13	1625	c.1239C>G	c.(1237-1239)atC>atG	p.I413M	BRSK2_ENST00000528710.1_Missense_Mutation_p.I353M|BRSK2_ENST00000531197.1_Missense_Mutation_p.I413M|BRSK2_ENST00000528841.1_Missense_Mutation_p.I413M|BRSK2_ENST00000544817.1_Missense_Mutation_p.I108M|BRSK2_ENST00000308230.5_Missense_Mutation_p.I435M|BRSK2_ENST00000382179.1_Missense_Mutation_p.I459M|BRSK2_ENST00000526678.1_Missense_Mutation_p.I435M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	413					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTCGGTCCATCAGCGGTGCCT	0.682000													31	126					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38831661	38831661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:38831661C>T	ENST00000359357.3	+	43	5926	c.5672C>T	c.(5671-5673)tCg>tTg	p.S1891L	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2108L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1891L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTGCACAGTCGGGTTCCTGG	0.358000													11	60					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228563713	228563713	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:228563713C>A	ENST00000570156.2	+	110	25736	c.25662C>A	c.(25660-25662)ggC>ggA	p.G8554G	OBSCN_ENST00000366707.4_Silent_p.G5231G|OBSCN_ENST00000422127.1_Silent_p.G7597G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7597					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGGCGGCAGCTGGACCA	0.637000													12	104					2.27111e-07	2.34899e-07	1	1	0
HOOK2	29911	broad.mit.edu	37	19	12885628	12885628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12885628C>G	ENST00000264827.5	-	2	299	c.129G>C	c.(127-129)caG>caC	p.Q43H	HOOK2_ENST00000397668.3_Missense_Mutation_p.Q43H|HOOK2_ENST00000589965.1_5'UTR	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	43	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCACTCACATCTGGTTCAGCA	0.592000													7	31					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23447553	23447553	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:23447553C>T	ENST00000262713.2	-	2	1483	c.1108_splice	c.e2+1	p.G370_splice	AJUBA_ENST00000361265.4_Splice_Site_p.G370_splice|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	370	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTACACTCACCACAAGAGCAG	0.537000													25	127					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38148153	38148153	+	Silent	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:38148153C>A	ENST00000317025.8	-	17	3475	c.2958G>T	c.(2956-2958)ctG>ctT	p.L986L	WHSC1L1_ENST00000527502.1_Silent_p.L986L|WHSC1L1_ENST00000433384.2_Silent_p.L937L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	986	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTGGATGTTCAGTGGCACAG	0.458000			T	NUP98	AML								16	96					1.15088e-07	1.19166e-07	1	1	0
EPX	8288	broad.mit.edu	37	17	56270489	56270489	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:56270489A>G	ENST00000225371.5	+	2	277	c.167A>G	c.(166-168)aAg>aGg	p.K56R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	56					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGGACCCAGAAGAGGTGGACT	0.612000													24	65					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865845	139865845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:139865845C>G	ENST00000370532.2	-	1	878	c.687G>C	c.(685-687)aaG>aaC	p.K229N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	229										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGTCAGTGTCTTCCAGAAAA	0.438000													13	96					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749474	79749474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:79749474G>C	ENST00000305428.3	+	2	1060	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	329						integral to membrane		p.E329K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGCAAAGCACGAAAGCTTAGA	0.517000													26	170					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10942635	10942635	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:10942635A>T	ENST00000404371.2	-	4	644	c.307T>A	c.(307-309)Tat>Aat	p.Y103N	PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000272227.3_Missense_Mutation_p.Y51N|PDIA6_ENST00000381611.4_Missense_Mutation_p.Y56N|PDIA6_ENST00000404824.2_Missense_Mutation_p.Y99N|PDIA6_ENST00000540494.1_Missense_Mutation_p.Y48N			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	51	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CATGGAGCATAGAATTCTACA	0.318000													10	46					0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2522374	2522374	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:2522374C>G	ENST00000293973.1	+	1	875	c.672C>G	c.(670-672)ctC>ctG	p.L224L		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	224	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GTGTAGTGCTCACAAGGCCTA	0.667000													20	51					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452834	64452834	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:64452834C>T	ENST00000394323.2	-	2	1071	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		191						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gttttacaatctggttctaat	0.448000													32	141					0	0	1	0	0
CXCL16	58191	broad.mit.edu	37	17	4638732	4638732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638732G>A	ENST00000293778.6	-	4	852	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	CXCL16_ENST00000574412.1_Nonsense_Mutation_p.Q144*|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	125					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						TCTGAGGCCTGAGAAATTGGG	0.547000													8	39					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11369770	11369770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:11369770C>T	ENST00000435245.2	-	2	449	c.340G>A	c.(340-342)Gca>Aca	p.A114T	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.C99Y			P04554	PRM2_HUMAN	protamine 2	0					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GTGCCTTCTGCATGTTCTCTT	0.552000													17	55					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577543	7577543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:7577543C>G	ENST00000420246.2	-	7	870	c.738G>C	c.(736-738)atG>atC	p.M246I	TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000269305.4_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCTCCGGTTCATGCCGCCCA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	43					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019807	56019807	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:56019807G>A	ENST00000303059.3	+	1	132	c.132G>A	c.(130-132)ttG>ttA	p.L44L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGTTTATATTGACAGGCTTCA	0.363000													12	54					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47025908	47025908	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:47025908C>T	ENST00000371946.4	-	13	1333	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	MKNK1_ENST00000341183.5_Intron|MKNK1_ENST00000428112.2_Intron|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Silent_p.Q254Q|MKNK1_ENST00000371945.4_Silent_p.Q349Q	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	390					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCATTTACCTCTGGAGGACTT	0.587000													5	41					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122723915	122723915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:122723915C>T	ENST00000512454.1	+	2	416	c.200C>T	c.(199-201)tCt>tTt	p.S67F	EXOSC9_ENST00000243498.5_Missense_Mutation_p.S83F|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.S83F			Q06265	EXOS9_HUMAN	exosome component 9	83	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CTTGAACTCTCTCAGATGGCC	0.403000													16	69					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370753	76370753	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:76370753G>C	ENST00000407242.2	-	3	2126	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L628L|LRRC32_ENST00000404995.1_Silent_p.L628L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	628						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGATGATGATGAGGTTGATGT	0.582000													4	137					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95887860	95887860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:95887860G>A	ENST00000323666.5	+	5	686	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	METAP2_ENST00000550777.1_Missense_Mutation_p.E117K|METAP2_ENST00000551840.1_Missense_Mutation_p.E152K|METAP2_ENST00000261220.9_Missense_Mutation_p.E130K|METAP2_ENST00000546753.1_Missense_Mutation_p.E130K	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	153					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AACTACAAGTGAAGAAAAGAA	0.383000													13	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179536920	179536920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179536920C>T	ENST00000589042.1	-	155	35229	c.35005G>A	c.(35005-35007)Gaa>Aaa	p.E11669K	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11295K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10368K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11535	Glu-rich.|Pro-rich.						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)			tctactacttctaattctagt	0.363000													4	7					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130686192	130686192	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:130686192G>A	ENST00000510168.1	+	16	1787	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	ATP2C1_ENST00000508532.1_Missense_Mutation_p.D413N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.D358N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.D413N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.D413N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.D397N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.D447N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.D413N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.D397N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.D413N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.D408N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	413					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TGTGTGCAATGATGCTGTAAT	0.368000									Hailey-Hailey disease				19	76					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080995	152080995	+	Missense_Mutation	SNP	C	C	G	rs71585886		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:152080995C>G	ENST00000368804.1	-	2	4697	c.4698G>C	c.(4696-4698)gaG>gaC	p.E1566D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1566	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCCTCTCCTGGCGCA	0.592000													9	119					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487025	131487025	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:131487025C>T	ENST00000309926.4	+	1	383	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	101						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCCTACATTCTCCTCCACAT	0.637000													14	58					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31838040	31838040	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:31838040G>A	ENST00000397525.1	-	17	2494	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	EIF4ENIF1_ENST00000382180.2_Silent_p.S412S|EIF4ENIF1_ENST00000344710.5_Silent_p.S583S|EIF4ENIF1_ENST00000330125.5_Silent_p.S757S|EIF4ENIF1_ENST00000397523.1_Silent_p.S733S	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	757						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACAGTTTGGAATTTGTAG	0.468000													13	114					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590604	101590604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:101590604G>T	ENST00000370449.4	+	21	2992	c.2879G>T	c.(2878-2880)gGa>gTa	p.G960V		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	960						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATAGAAACTGGAAAGGTGAAC	0.363000													10	40					5.50884e-06	5.66018e-06	1	1	0
FBN2	2201	broad.mit.edu	37	5	127666307	127666307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:127666307C>T	ENST00000508053.1	-	39	5277	c.4303G>A	c.(4303-4305)Gcc>Acc	p.A1435T	FBN2_ENST00000262464.4_Missense_Mutation_p.A1435T|FBN2_ENST00000507835.1_Missense_Mutation_p.A285T|FBN2_ENST00000508989.1_Missense_Mutation_p.A1402T			P35556	FBN2_HUMAN	fibrillin 2	1435	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGAGCAGGCACAGCGGTAT	0.502000													15	53					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50383954	50383954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:50383954G>A	ENST00000394688.3	-	5	730	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.Q191*|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	191	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCTATGGACTGATAGTCATTG	0.343000													5	66					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820941	10820941	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:10820941G>T	ENST00000526148.1	-	20	2865	c.2355C>A	c.(2353-2355)aaC>aaA	p.N785K	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.N747K|EIF4G2_ENST00000525681.1_Missense_Mutation_p.N785K|EIF4G2_ENST00000339995.5_Missense_Mutation_p.N785K	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	785	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CGCTGGGGGGGTTTACTTCAC	0.418000													11	42					4.3838e-07	4.52912e-07	1	1	0
GFRA2	2675	broad.mit.edu	37	8	21608407	21608407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:21608407C>T	ENST00000524240.1	-	4	1137	c.487G>A	c.(487-489)Gat>Aat	p.D163N	GFRA2_ENST00000518077.1_Missense_Mutation_p.D30N|GFRA2_ENST00000400782.4_Missense_Mutation_p.D58N|GFRA2_ENST00000517328.1_Missense_Mutation_p.D163N	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	163						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTGGCAGCATCCAGGCAATGG	0.597000													12	30					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86108780	86108780	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:86108780C>T	ENST00000278487.3	+	6	1181	c.102C>T	c.(100-102)acC>acT	p.T34T	CCDC81_ENST00000445632.2_Silent_p.T251T|CCDC81_ENST00000354755.1_Silent_p.T161T|CCDC81_ENST00000528728.1_Silent_p.T34T			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	251										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AAGAAGGCACCAGAGGTAGGC	0.413000													6	42					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94603376	94603376	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:94603376C>G	ENST00000258526.4	+	5	1699	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	484					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTGCACTTTTCAAGGAGATTG	0.383000													32	146					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701587	16701587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:16701587C>T	ENST00000513610.1	-	25	3371	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	MYO10_ENST00000274203.9_Missense_Mutation_p.E330K|MYO10_ENST00000515803.1_Missense_Mutation_p.E312K|MYO10_ENST00000427430.2_Missense_Mutation_p.E330K|MYO10_ENST00000505695.1_Missense_Mutation_p.E312K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	973					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATGCGCTCTCAGCCAGCTCG	0.587000													11	46					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113265335	113265335	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:113265335G>T	ENST00000401783.2	-	6	1802	c.1466C>A	c.(1465-1467)cCa>cAa	p.P489Q	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P489Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.P466Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.P466Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	489	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCGGGGTTCTGGCCCATCCCA	0.438000													17	50					2.94398e-08	3.05508e-08	1	1	0
GPR39	2863	broad.mit.edu	37	2	133402678	133402678	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:133402678G>A	ENST00000329321.3	+	2	1330	c.861G>A	c.(859-861)ctG>ctA	p.L287L	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	287						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCAGGGCTGATTGTTGTGA	0.502000													11	49					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55020994	55020994	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:55020994G>A	ENST00000371336.3	+	3	699	c.498G>A	c.(496-498)ctG>ctA	p.L166L	CASS4_ENST00000434344.1_Silent_p.L166L|CASS4_ENST00000360314.3_Silent_p.L166L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	166					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGGCCTCACTGCCGACTCTGC	0.582000													7	59					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53570870	53570870	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:53570870C>T	ENST00000342160.3	-	72	11768	c.11311G>A	c.(11311-11313)Gag>Aag	p.E3771K	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3771					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATCAGCCTCAGCCTCCAGC	0.517000													7	13					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57537482	57537482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:57537482C>G	ENST00000243077.3	+	4	815	c.349C>G	c.(349-351)Cgc>Ggc	p.R117G	LRP1_ENST00000554174.1_Missense_Mutation_p.R117G|LRP1_ENST00000553277.1_Missense_Mutation_p.R117G|LRP1_ENST00000338962.4_Missense_Mutation_p.R117G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	117	EGF-like 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAACTGCTCTCGCCTGGGCTG	0.602000													12	87					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76688531	76688531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:76688531C>T	ENST00000589297.1	-	11	1374	c.682G>A	c.(682-684)Gac>Aac	p.D228N	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.D287N|CYTH1_ENST00000446868.3_Missense_Mutation_p.D287N|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000585509.1_Missense_Mutation_p.D228N|CYTH1_ENST00000591455.1_Missense_Mutation_p.D286N			Q15438	CYH1_HUMAN	cytohesin 1	287					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGCAGTTGTCAGTCAGAATG	0.517000													39	155					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678741	186678741	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:186678741C>G	ENST00000343098.5	+	18	20564	c.20564C>G	c.(20563-20565)tCa>tGa	p.S6855*	FSIP2_ENST00000424728.1_Nonsense_Mutation_p.S6766*	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAGCCTCTTCATCTTGGGAG	0.448000													13	61					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35706339	35706339	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:35706339C>G	ENST00000314888.9	-	40	5568	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E1723Q|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1739	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGAGCGGCTCAAAGTACTGC	0.607000													25	105					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638800	8638800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:8638800C>T	ENST00000293845.3	-	5	848	c.622G>A	c.(622-624)Gag>Aag	p.E208K	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	208				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCCTTTTCCTCCATGTAGCGC	0.592000													7	52					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79441526	79441526	+	Missense_Mutation	SNP	C	C	A	rs139637420		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:79441526C>A	ENST00000376718.3	-	5	754	c.631G>T	c.(631-633)Gtc>Ttc	p.V211F	PRUNE2_ENST00000376713.3_Missense_Mutation_p.V211F|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	211					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTGTAGGACGTTGATGATG	0.493000													33	152					3.03874e-20	3.23602e-20	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50215688	50215688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:50215688C>T	ENST00000284509.6	-	17	1787	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R549Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	549					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGGGTTTCGAACTGAAAA	0.378000													13	33					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42987581	42987581	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:42987581G>C	ENST00000435360.2	-	8	1226	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	405	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGGCTTTTGAGATATCTTGTG	0.483000													29	151					0	0	1	0	0
CTDSP1	58190	broad.mit.edu	37	2	219267126	219267126	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219267126C>G	ENST00000273062.2	+	4	712	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	CTDSP1_ENST00000443891.1_Missense_Mutation_p.Q125E|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	126	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGTCCACCAGGTGAGGGC	0.607000													6	86					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41251814	41251814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:41251814C>G	ENST00000357654.3	-	7	643	c.525G>C	c.(523-525)aaG>aaC	p.K175N	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.K128N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.K175N|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.K175N|BRCA1_ENST00000354071.3_Missense_Mutation_p.K175N|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000352993.3_Missense_Mutation_p.K175N|BRCA1_ENST00000468300.1_Missense_Mutation_p.K175N|BRCA1_ENST00000351666.3_Missense_Mutation_p.K175N|BRCA1_ENST00000346315.3_Missense_Mutation_p.K175N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	175					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.K175N(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGACAGACGTCTTTTGAGGTT	0.383000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			13	79					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12229683	12229683	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:12229683C>G	ENST00000256194.4	+	5	874	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	MICAL2_ENST00000379612.3_Missense_Mutation_p.Q196E|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000537344.1_Missense_Mutation_p.Q196E|MICAL2_ENST00000342902.5_Missense_Mutation_p.Q196E|MICAL2_ENST00000527546.1_Missense_Mutation_p.Q196E	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	196						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAAGAAAATCAAAGTACAGT	0.403000													16	53					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469623	35469623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:35469623G>C	ENST00000381151.3	+	2	2638	c.2126G>C	c.(2125-2127)gGa>gCa	p.G709A	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	709						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGTTCACTTGGAATTTTCATG	0.358000													9	50					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49447763	49447763	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:49447763C>G	ENST00000388901.5	-	1	86	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	COPS2_ENST00000542928.1_Missense_Mutation_p.E5Q|COPS2_ENST00000299259.6_Missense_Mutation_p.E5Q	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	5					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AAATCATCCTCCATGTCAGAC	0.572000													6	50					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975351	7975351	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:7975351C>G	ENST00000545011.1	+	5	652	c.587C>G	c.(586-588)tCc>tGc	p.S196C	MAP2K7_ENST00000397981.3_Missense_Mutation_p.S154C|MAP2K7_ENST00000397979.3_Missense_Mutation_p.S154C|MAP2K7_ENST00000397983.3_Missense_Mutation_p.S170C			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	154	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	ATGCGGCGCTCCGGGAACAAG	0.637000													5	14					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	31					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71570016	71570016	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:71570016C>G	ENST00000370455.3	+	11	1631	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	SMAP1_ENST00000316999.5_Silent_p.L434L|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_3'UTR	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	461					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GTCAGACTCTCAGCACACAAC	0.483000													17	75					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157082	4157082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:4157082G>A	ENST00000078445.2	+	3	394	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CREB3L3_ENST00000595923.1_Missense_Mutation_p.E82K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E73K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000602147.1_Missense_Mutation_p.E83K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	83					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTCCCCCGAAGGCAGTGA	0.672000													18	82					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50804959	50804959	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:50804959C>T	ENST00000440075.2	+	40	5558	c.5511C>T	c.(5509-5511)ttC>ttT	p.F1837F	MYH14_ENST00000598205.1_Silent_p.F1804F|MYH14_ENST00000376970.2_Silent_p.F1829F|MYH14_ENST00000262269.8_Silent_p.F1837F|MYH14_ENST00000601313.1_Silent_p.F1837F|MYH14_ENST00000596571.1_Silent_p.F1796F|MYH14_ENST00000425460.1_Silent_p.F1804F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1796					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCGCAGTTTCTCAGCCAAGG	0.627000													16	70					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375490	65375490	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:65375490G>C	ENST00000309100.3	-	3	1457	c.972C>G	c.(970-972)ggC>ggG	p.G324G	MAP3K11_ENST00000530153.1_Silent_p.G67G	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	324	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGCAGTCAATGCCACGGTATG	0.592000													17	73					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24680895	24680895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:24680895C>T	ENST00000361548.4	+	16	1956	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*	GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Q530*|GRHL3_ENST00000350501.5_Intron|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Q483*|GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Q581*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	0					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAACATCATTCAGCATTACAG	0.517000													13	50					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242202142	242202142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:242202142G>A	ENST00000391975.1	-	5	661	c.434C>T	c.(433-435)gCt>gTt	p.A145V	HDLBP_ENST00000427183.2_Missense_Mutation_p.A181V|HDLBP_ENST00000310931.4_Missense_Mutation_p.A145V|HDLBP_ENST00000391976.2_Missense_Mutation_p.A145V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	145					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGCAGTCTAGCAACAATGTC	0.547000													13	69					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100080853	100080853	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:100080853C>T	ENST00000375202.2	+	24	2552	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	CCDC180_ENST00000411667.2_Silent_p.L397L|CCDC180_ENST00000529487.1_Silent_p.L400L|CCDC180_ENST00000357054.1_Silent_p.L539L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Intron					coiled-coil domain containing 180																		TGAAGCATCTCTGCACCATCT	0.612000													15	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587394	179587394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179587394C>T	ENST00000589042.1	-	76	22456	c.22232G>A	c.(22231-22233)aGa>aAa	p.R7411K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7094K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6167K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7094	Ig-like 56.						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)			ACCTTGAATTCTGAACACAGT	0.323000													4	28					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673657	36673657	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673657G>C	ENST00000355114.5	-	5	2057	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	ZNF565_ENST00000304116.5_Nonsense_Mutation_p.S404*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.S404*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AATGAGGTATGAGCTACGACT	0.463000													12	73					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908277	103908277	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:103908277C>T	ENST00000278070.2	+	10	4588	c.4550_splice	c.e10+1	p.R1517_splice	PPRC1_ENST00000413464.2_Splice_Site_p.R1253_splice|PPRC1_ENST00000370012.1_Splice_Site_p.R484_splice|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1517	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGGAGGCGGCGGTGAGCATG	0.557000													38	120					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41961828	41961828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:41961828C>T	ENST00000219905.7	+	2	917	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	MGA_ENST00000389936.4_Nonsense_Mutation_p.Q246*|MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q246*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q246*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q246*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	246						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q246E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCAGATTACTCAGCTGAAAAT	0.418000													5	25					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854052	122854052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:122854052C>A	ENST00000264811.5	-	1	560	c.142G>T	c.(142-144)Gag>Tag	p.E48*	TRPC3_ENST00000379645.3_Nonsense_Mutation_p.E121*|TRPC3_ENST00000513531.1_Nonsense_Mutation_p.E48*	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	36					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGCCGTACTCGGCGGCGTCG	0.662000													12	63					2.80697e-09	2.92263e-09	1	1	0
SNTB2	6645	broad.mit.edu	37	16	69333548	69333548	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:69333548C>T	ENST00000336278.4	+	6	1439	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	467						cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AAAATGGGTTCACCATCTCAA	0.423000													12	54					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30699037	30699037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:30699037C>T	ENST00000399921.1	+	3	1135	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.Q298*	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	298						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TCCTGCTTCTCAGTGCCCAAC	0.423000													22	120					0	0	1	0	0
TMEM64	169200	broad.mit.edu	37	8	91643929	91643929	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:91643929C>T	ENST00000458549.2	-	2	979	c.802G>A	c.(802-804)Gat>Aat	p.D268N	TMEM64_ENST00000519519.1_Missense_Mutation_p.D7N|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	268						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AATGAGAGATCAGTAATCTAG	0.373000													9	52					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103243902	103243902	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:103243902G>T	ENST00000428762.1	-	24	3341	c.3182C>A	c.(3181-3183)cCa>cAa	p.P1061Q	RELN_ENST00000424685.2_Missense_Mutation_p.P1061Q|RELN_ENST00000343529.5_Missense_Mutation_p.P1061Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1061					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCAGCTTCTGGGTGGCATTC	0.522000													20	58					4.35082e-09	4.52504e-09	1	1	0
FAM127C	441518	broad.mit.edu	37	X	134156231	134156231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:134156231C>G	ENST00000391440.1	-	1	328	c.259G>C	c.(259-261)Gag>Cag	p.E87Q		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	87										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					AGGGGGCTCTCCTTCTTGATG	0.627000													24	32					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201337314	201337314	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201337314C>G	ENST00000509001.1	-	5	395	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	TNNT2_ENST00000367322.1_Missense_Mutation_p.E37Q|TNNT2_ENST00000458432.2_Missense_Mutation_p.E49Q|TNNT2_ENST00000236918.7_Missense_Mutation_p.E42Q|TNNT2_ENST00000367317.4_Missense_Mutation_p.E37Q|TNNT2_ENST00000367320.2_Missense_Mutation_p.E47Q|TNNT2_ENST00000360372.4_Missense_Mutation_p.E32Q|TNNT2_ENST00000367315.2_Missense_Mutation_p.E37Q|TNNT2_ENST00000367318.5_Missense_Mutation_p.E37Q|TNNT2_ENST00000421663.2_Missense_Mutation_p.E39Q	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	47					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTCGGTCTCAGCCTCTGCT	0.592000													29	97					0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44178534	44178534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:44178534C>T	ENST00000458240.1	-	6	721	c.433G>A	c.(433-435)Gag>Aag	p.E145K	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Missense_Mutation_p.E172K			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	172	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCCTCTTTCTCGTCTCCATGG	0.557000													12	63					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188601	57188601	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:57188601C>G	ENST00000331162.4	-	5	791	c.521G>C	c.(520-522)aGa>aCa	p.R174T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTTTTATCTCTATTGGAATT	0.284000													5	30					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556472	35556472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:35556472C>G	ENST00000262626.2	+	11	1762	c.937C>G	c.(937-939)Cga>Gga	p.R313G	HPN_ENST00000597419.1_Missense_Mutation_p.R155G|HPN_ENST00000392226.1_Missense_Mutation_p.R313G|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	313	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCAGGAGGCTCGAGTCCCCAT	0.612000													5	50					0	0	1	0	0
ATP5G1	516	broad.mit.edu	37	17	46973029	46973029	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:46973029C>G	ENST00000393366.2	+	5	412	c.309C>G	c.(307-309)ctC>ctG	p.L103L	ATP5G1_ENST00000506855.1_Silent_p.L77L|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000503641.1_Silent_p.L94L|ATP5G1_ENST00000355938.5_Silent_p.L103L	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	103					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			liver(1)|lung(1)	2						ACCCGTCTCTCAAGCAGCAGC	0.572000													59	206					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46565585	46565585	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:46565585C>T	ENST00000458649.2	-	6	976	c.558G>A	c.(556-558)gtG>gtA	p.V186V	AMBRA1_ENST00000426438.1_Silent_p.V186V|AMBRA1_ENST00000534300.1_Silent_p.V186V|AMBRA1_ENST00000533727.1_Silent_p.V186V|AMBRA1_ENST00000314845.3_Silent_p.V186V|AMBRA1_ENST00000528950.1_Silent_p.V186V|AMBRA1_ENST00000298834.3_Silent_p.V186V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	186					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCAAATCTCACCAGACTAA	0.373000													15	57					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468906	56468906	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:56468906G>C	ENST00000288221.6	-	2	385	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	44						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCATAGACAGAGTCTTGCCT	0.527000													18	68					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26114340	26114340	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:26114340G>A	ENST00000324198.5	+	19	1975	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	595	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGGAGAGGGAGAGTCCCGGGT	0.468000													26	112					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128588064	128588064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:128588064C>T	ENST00000402030.2	+	7	1093	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	IRF5_ENST00000473745.1_Nonsense_Mutation_p.Q341*|IRF5_ENST00000357234.5_Nonsense_Mutation_p.Q357*|IRF5_ENST00000477535.1_Nonsense_Mutation_p.Q255*|IRF5_ENST00000249375.4_Nonsense_Mutation_p.Q341*	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	341					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCGCCTGTGTCAGTGCAAGGT	0.602000													25	145					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61187080	61187080	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:61187080G>C	ENST00000216513.4	-	2	1006	c.947C>G	c.(946-948)tCt>tGt	p.S316C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	316						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GATGCCATCAGATGAACTGGA	0.458000													25	86					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38786683	38786683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:38786683C>T	ENST00000310803.5	-	16	2336	c.2159G>A	c.(2158-2160)aGa>aAa	p.R720K	RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R672K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R771K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R685K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	720	PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGCCCGCTTTCTGACCAAGAC	0.512000													4	8					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470853	92470853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:92470853C>T	ENST00000267622.4	-	11	3840	c.3467G>A	c.(3466-3468)aGa>aAa	p.R1156K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1156					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATAGTTTCTCTAAACATATC	0.338000			T	PDGFRB	AML								9	17					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128565	56128565	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:56128565G>T	ENST00000303039.3	+	1	875	c.843G>T	c.(841-843)ttG>ttT	p.L281F		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTTACACGTTGGTAATTCCTA	0.393000													12	54					0.00136819	0.00138598	1	1	0
SCARA5	286133	broad.mit.edu	37	8	27779710	27779710	+	Silent	SNP	C	C	T	rs146865223		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:27779710C>T	ENST00000354914.3	-	4	779	c.294G>A	c.(292-294)gtG>gtA	p.V98V	SCARA5_ENST00000301906.4_Silent_p.V55V|SCARA5_ENST00000518030.1_Silent_p.V55V|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Silent_p.V98V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	98					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCAGCCGGTTCACATTGCGAG	0.662000													3	29					0	0	1	0	0
PARK7	11315	broad.mit.edu	37	1	8025464	8025464	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:8025464C>T	ENST00000493678.1	+	3	238	c.171C>T	c.(169-171)agC>agT	p.S57S	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000338639.5_Silent_p.S57S|PARK7_ENST00000377491.1_Silent_p.S57S|PARK7_ENST00000377488.1_Silent_p.S57S|PARK7_ENST00000377493.5_Silent_p.S57S			Q99497	PARK7_HUMAN	parkinson protein 7	57					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGCCAGCCTTGAAGATG	0.418000													6	50					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7800404	7800404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:7800404G>C	ENST00000380358.4	+	11	1889	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q	CHD3_ENST00000358181.4_Missense_Mutation_p.E571Q|CHD3_ENST00000330494.7_Missense_Mutation_p.E571Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	571					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTGCTAGCTGGAAATCTTCCA	0.532000													9	36					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24705289	24705289	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:24705289G>C	ENST00000396475.2	+	8	1165	c.866G>C	c.(865-867)aGa>aCa	p.R289T	MPP6_ENST00000409761.1_Missense_Mutation_p.R177T|MPP6_ENST00000222644.4_Missense_Mutation_p.R289T	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	289					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTTGTTAGAAGAGACTGGGAC	0.418000													21	26					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719787	48719787	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:48719787G>A	ENST00000294129.2	-	3	599	c.480C>T	c.(478-480)ctC>ctT	p.L160L	NCKIPSD_ENST00000341520.4_Silent_p.L160L|NCKIPSD_ENST00000416649.2_Silent_p.L160L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	160					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACACCTGGTAGAGGCCTCCAT	0.617000													51	188					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129110548	129110548	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:129110548G>A	ENST00000249344.2	+	18	1976	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	STRIP2_ENST00000435494.2_Missense_Mutation_p.E646K	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GCTTACTACTGAAAGTCTGGT	0.458000													4	32					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541366	31541366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:31541366G>A	ENST00000454783.1	+	4	772	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	LTA_ENST00000418386.2_Missense_Mutation_p.A172T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	172					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACGGGGCTGCGTTCCAGCT	0.597000													60	211					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4889384	4889384	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:4889384C>T	ENST00000298375.7	+	9	953	c.882C>T	c.(880-882)ctC>ctT	p.L294L	AKR1E2_ENST00000334019.4_Silent_p.L237L|AKR1E2_ENST00000345253.5_Silent_p.L196L|AKR1E2_ENST00000532248.1_Silent_p.L237L	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	294						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATAACATCCTCAGCCTAAACA	0.368000													20	87					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120597714	120597714	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:120597714C>T	ENST00000300648.6	-	24	2676	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	888					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGACTTCAGCAAGGGCA	0.572000													15	86					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473868	53473868	+	RNA	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:53473868C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TCATATCAGTCTGTATTACCT	0.383000													21	122					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17793364	17793364	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:17793364G>A	ENST00000380607.4	+	8	848		c.e8-1		SH3GL2_ENST00000537391.1_Splice_Site	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2						axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TTTTACTGCAGAATAAGACAG	0.418000													9	27					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193384985	193384985	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:193384985G>C	ENST00000361510.2	+	29	3133	c.2899G>C	c.(2899-2901)Gag>Cag	p.E967Q	OPA1_ENST00000361150.2_Missense_Mutation_p.E913Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E912Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E931Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E930Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E949Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	912					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAATGTTAAAGAGGTATTGGA	0.333000													17	83					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50496183	50496183	+	Missense_Mutation	SNP	C	C	G	rs56089748	byFrequency	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:50496183C>G	ENST00000599538.1	-	10	1561	c.897G>C	c.(895-897)gaG>gaC	p.E299D	VRK3_ENST00000594092.1_Missense_Mutation_p.E299D|VRK3_ENST00000377011.2_Missense_Mutation_p.E249D|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.E299D|VRK3_ENST00000601912.1_Missense_Mutation_p.E249D|VRK3_ENST00000601341.1_Missense_Mutation_p.E249D|VRK3_ENST00000443401.2_Missense_Mutation_p.E68D|VRK3_ENST00000594948.1_Missense_Mutation_p.E299D|VRK3_ENST00000593919.1_Missense_Mutation_p.E299D			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	299	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CATACTCATTCTCATGGAGGA	0.507000													44	111					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121547447	121547447	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:121547447C>G	ENST00000310864.6	-	4	347	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E45Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	45					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTCTTCAACTCTGAGCTTCCT	0.318000													6	35					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127455440	127455440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:127455440G>A	ENST00000368808.3	-	7	1500	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	501					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGAAAGGATGATTTTGTGGT	0.348000													21	41					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39554039	39554039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:39554039C>T	ENST00000287152.7	-	8	1082	c.988G>A	c.(988-990)Gat>Aat	p.D330N	KIF6_ENST00000373213.4_Missense_Mutation_p.D169N|KIF6_ENST00000373216.3_Missense_Mutation_p.D330N|KIF6_ENST00000373215.3_Missense_Mutation_p.D330N|KIF6_ENST00000538893.1_Missense_Mutation_p.D330N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	330					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.D330Y(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCACATACATCAAGATTCCTT	0.438000													16	87					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202151261	202151261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:202151261C>T	ENST00000358485.4	+	9	1757	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q447*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q378*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q479*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q462*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	462					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CATGGGGAAACAGATGCCTCA	0.358000										HNSCC(4;0.00038)			10	62					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47910191	47910191	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:47910191G>A	ENST00000331559.5	-	11	1560	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561096.1_Silent_p.I432I|MEIS3_ENST00000561293.1_Silent_p.I390I|MEIS3_ENST00000559524.1_Silent_p.I390I|MEIS3_ENST00000558555.1_Silent_p.I344I|MEIS3_ENST00000441740.2_Silent_p.I327I	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	344						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I390I(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TATAGCCCCCGATGGGCTGGC	0.706000													4	14					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150873977	150873977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:150873977C>T	ENST00000474524.1	+	5	624	c.586C>T	c.(586-588)Cga>Tga	p.R196*	MED12L_ENST00000422248.2_Nonsense_Mutation_p.R196*|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R196*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.R196*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	196					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATATCTTCGAGAGCAGTT	0.458000													18	70					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673808	36673808	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:36673808G>C	ENST00000355114.5	-	5	1906	c.1180C>G	c.(1180-1182)Caa>Gaa	p.Q394E	ZNF565_ENST00000304116.5_Missense_Mutation_p.Q354E|ZNF565_ENST00000392173.2_Missense_Mutation_p.Q354E			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGAATTCTTTGATGTCGAGTA	0.488000													17	77					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231351159	231351159	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:231351159G>A	ENST00000444294.3	+	10	3177	c.2319G>A	c.(2317-2319)ctG>ctA	p.L773L	TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000449018.3_Silent_p.L713L|TRIM67_ENST00000366653.5_Silent_p.L775L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	775	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGACTAACCTGGGGCGGCCAA	0.592000													7	18					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476783	476783	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:476783C>G	ENST00000264938.3	-	12	1774	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E580Q	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	589						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.E589K(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGACATTTTCTCTCCTGCGT	0.667000													9	40					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966217	87966217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:87966217C>G	ENST00000369577.3	+	8	2913	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.S952*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	957					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAAGAAAACTCAACTGTGGAA	0.438000													4	76					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398000													18	88					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9426271	9426271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:9426271C>T	ENST00000345094.3	+	10	1757	c.1423C>T	c.(1423-1425)Ctt>Ttt	p.L475F	THUMPD3_ENST00000515662.2_Missense_Mutation_p.L475F|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L475F|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	475							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CGTTGGTGGTCTTCGTGCTGC	0.438000													30	163					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113483555	113483555	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:113483555G>A	ENST00000505019.1	-	18	4794	c.4669C>T	c.(4669-4671)Cta>Tta	p.L1557L		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTAGAGGTAGAGTAGCTGGA	0.343000													6	8					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9462019	9462019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:9462019G>A	ENST00000379719.3	+	23	2855	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	905	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGGGAGTGATGAAGATGATAT	0.373000													13	55					0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176070095	176070095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:176070095G>A	ENST00000318682.6	+	4	612	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.E10K	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	10					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGAAGCTGAGGGTGGAAT	0.597000													7	17					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664137	22664137	+	RNA	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:22664137G>C	ENST00000426066.1	+	0	660					NR_027293.1																						GGCCAAATTTGAAGGTGCTGT	0.438000													18	93					0	0	1	0	0
CXCL16	58191	broad.mit.edu	37	17	4638390	4638390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:4638390G>A	ENST00000293778.6	-	4	1194	c.772C>T	c.(772-774)Cca>Tca	p.P258S	CXCL16_ENST00000574412.1_Missense_Mutation_p.P258S|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	239					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						AGTTTACCTGGAGAGGACTGC	0.607000													11	50					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3266975	3266975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:3266975G>A	ENST00000602557.1	-	14	2272	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q573*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q572*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q573*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	573	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCAGACCACTGATTGTTCTGC	0.532000													6	17					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30934044	30934044	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:30934044C>G	ENST00000399914.1	-	14	2733	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	GRIK1_ENST00000399913.1_Missense_Mutation_p.E753Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E738Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E755Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E753Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.E753Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E753Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E738Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E755Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	753					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTGGTGGACTCCATCAGCAGC	0.547000													13	46					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437834	201437834	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:201437834C>G	ENST00000367311.3	-	1	478	c.81G>C	c.(79-81)aaG>aaC	p.K27N	PHLDA3_ENST00000367309.1_Missense_Mutation_p.K27N	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	27	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						AGCGCTTCCGCTTCCACAGCT	0.726000													4	16					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62505042	62505042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:62505042C>G	ENST00000217121.5	+	3	259	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	TPD52L2_ENST00000346249.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000369927.4_Missense_Mutation_p.L40V|TPD52L2_ENST00000351424.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000358548.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000352482.4_Missense_Mutation_p.L63V|TPD52L2_ENST00000348257.5_Missense_Mutation_p.L63V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	63					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AATTGTCACTCTGCGCCAGGT	0.557000													9	33					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48385882	48385882	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:48385882C>T	ENST00000224600.4	-	2	3323	c.3210G>A	c.(3208-3210)aaG>aaA	p.K1070K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1070	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTGCATGATCTTCTTCCAGA	0.562000													17	81					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390306	158390306	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:158390306G>A	ENST00000314902.2	-	1	350	c.351C>T	c.(349-351)gtC>gtT	p.V117V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CATAACCCATGACTGCCAGCA	0.517000													28	83					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8737201	8737201	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:8737201G>C	ENST00000534127.1	-	9	2179	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	ST5_ENST00000526757.1_Silent_p.L178L|ST5_ENST00000313726.6_Silent_p.L598L|ST5_ENST00000526099.1_Silent_p.L111L|ST5_ENST00000530991.1_Silent_p.L70L|ST5_ENST00000357665.1_Silent_p.L598L|ST5_ENST00000530438.1_Silent_p.L178L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	598					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGGTGGTGCTGAGGCTGTCTT	0.672000													13	59					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33682490	33682490	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:33682490C>G	ENST00000321505.4	+	19	5378	c.5198C>G	c.(5197-5199)tCa>tGa	p.S1733*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.S1739*					KIAA1549-like																		ACGCCTCCCTCATCCTATAGG	0.557000													6	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612932	179612932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:179612932G>T	ENST00000360870.5	-	46	14417	c.14195C>A	c.(14194-14196)tCa>tAa	p.S4732*	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	843	Ig-like 27.						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)			TAGGGCACATGATTCACTATA	0.353000													6	40					8.12818e-05	8.29678e-05	1	1	0
PCLO	27445	broad.mit.edu	37	7	82545234	82545234	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:82545234C>A	ENST00000423517.2	-	7	12405	c.12068G>T	c.(12067-12069)aGc>aTc	p.S4023I	PCLO_ENST00000333891.8_Missense_Mutation_p.S4023I|PCLO_ENST00000437081.1_Missense_Mutation_p.S743I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3954					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTGGACTGCTTGCCATGCT	0.393000													6	130					0.00116845	0.00118492	1	1	0
ZNF77	58492	broad.mit.edu	37	19	2933611	2933611	+	Missense_Mutation	SNP	G	G	A	rs112261253		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:2933611G>A	ENST00000314531.4	-	4	1606	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGAAGGGACGAGGAACAACT	0.502000													17	58					0	0	1	0	0
HSD17B8	7923	broad.mit.edu	37	6	33174212	33174212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:33174212C>T	ENST00000374662.3	+	8	782	c.755C>T	c.(754-756)tCa>tTa	p.S252L	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	252					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	ACAGGGACCTCAGTGGAAGTC	0.517000													21	67					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54990842	54990842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:54990842C>T	ENST00000316881.4	-	1	557	c.508G>A	c.(508-510)Gag>Aag	p.E170K	TRIM25_ENST00000537230.1_Missense_Mutation_p.E170K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	170					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCGCTGTGCTCGGGGCAGAAA	0.657000													15	49					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80121215	80121215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:80121215C>T	ENST00000389641.4	-	13	1937	c.1901G>A	c.(1900-1902)gGt>gAt	p.G634D	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.G634D|CCDC57_ENST00000392347.1_Missense_Mutation_p.G634D			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	634										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCGGCTTGACCAGCTTGGGC	0.562000													11	69					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378043	19378043	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:19378043C>T	ENST00000550708.1	+	1	522	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTAATATCATGACTGGGC	0.458000													34	208					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46884229	46884229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:46884229G>A	ENST00000218343.4	+	5	686	c.388G>A	c.(388-390)Gag>Aag	p.E130K	PHF16_ENST00000397189.1_Missense_Mutation_p.E130K	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		130					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CAACATCATGGAGTTGGCAGC	0.473000													5	41					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310641	57310641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:57310641C>T	ENST00000457912.1	+	2	580	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	SMTNL1_ENST00000527972.1_Nonsense_Mutation_p.Q176*|SMTNL1_ENST00000399154.2_Nonsense_Mutation_p.Q176*			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	176										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GACAGCCTCTCAGGAGGAGAC	0.547000													6	31					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56058054	56058054	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:56058054G>A	ENST00000584396.1	-	4	947	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	VEZF1_ENST00000581208.1_Silent_p.L296L			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	296					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTGCACTCAGGAGCTTCCCA	0.488000													15	62					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401612	140401612	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:140401612G>C	ENST00000286349.3	+	2	841	c.650G>C	c.(649-651)cGc>cCc	p.R217P		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	217						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTCACCAAGCGCTACATGCAG	0.617000													31	128					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333650	27333650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:27333650G>C	ENST00000405846.3	-	2	536	c.315C>G	c.(313-315)taC>taG	p.Y105*	GPR12_ENST00000381436.2_Nonsense_Mutation_p.Y105*	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	105						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ACTGAAGCAGGTAGGCAAAAA	0.557000													17	89					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:45718018G>C	ENST00000327619.5	+	8	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	268					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587000													4	61					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50059692	50059692	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:50059692C>G	ENST00000335154.5	-	4	525		c.e4-1		FMNL3_ENST00000550488.1_Splice_Site|FMNL3_ENST00000293590.5_Splice_Site|FMNL3_ENST00000352151.5_Splice_Site	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3						actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCCTGAACTTCTGTAAAAAGG	0.512000													33	116					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647475	152647475	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:152647475C>T	ENST00000367255.5	-	79	15850	c.15249G>A	c.(15247-15249)caG>caA	p.Q5083Q	SYNE1_ENST00000423061.1_Silent_p.Q5012Q|SYNE1_ENST00000341594.5_Silent_p.Q4830Q|SYNE1_ENST00000265368.4_Silent_p.Q5083Q|SYNE1_ENST00000448038.1_Silent_p.Q5012Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5083					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCATCCTCTGGCTCCTGA	0.493000										HNSCC(10;0.0054)			12	60					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776601	13776601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:13776601G>A	ENST00000265104.4	-	55	9424	c.9320C>T	c.(9319-9321)tCa>tTa	p.S3107L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3107	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCATCCTGAAATTAGGGC	0.463000									Kartagener syndrome				8	125					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064373	128064373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:128064373C>G	ENST00000470056.1	+	3	457	c.297C>G	c.(295-297)ttC>ttG	p.F99L	GAPVD1_ENST00000394105.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.F99L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.F99L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.F99L|GAPVD1_ENST00000394084.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.F99L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	99					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATGGAGAATTCTTGAGTCGAT	0.403000													15	105					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30676372	30676372	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:30676372G>A	ENST00000356166.6	+	9	2668	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	FBRS_ENST00000395073.2_5'UTR|FBRS_ENST00000568722.1_Intron|FBRS_ENST00000287468.5_Missense_Mutation_p.G7E			Q9HAH7	FBRS_HUMAN	fibrosin	7										ovary(1)	1			Colorectal(24;0.103)			AAATATCCAGGAAAGATGGAA	0.567000													10	34					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144922249	144922249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:144922249G>A	ENST00000529945.1	-	4	1847	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q444*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q373*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.Q470*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.Q94*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q444*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	307					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGTCATTTTGACCTTCAATT	0.398000			T	PDGFRB	MPD								3	28					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110815841	110815841	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:110815841C>T	ENST00000375820.4	-	47	4339	c.4218G>A	c.(4216-4218)caG>caA	p.Q1406Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1406	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCTCCTTTCTGGCCAGGGG	0.512000													6	27					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563316	45563316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:45563316G>A	ENST00000379161.4	-	1	302	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	86	Pro-rich.				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GCCCCGGGAAGAATCTGGGCG	0.657000													8	24					0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62620850	62620850	+	RNA	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:62620850C>G	ENST00000364799.1	-	0	17					NR_002560.1																						GGGCGGTATTCAACTCATCAC	0.448000													5	48					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21355845	21355845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:21355845G>A	ENST00000313654.9	+	10	1604	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E455K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	455	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACAACTGTGAGAAGTGTGC	0.493000													15	61					0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43159031	43159031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:43159031G>A	ENST00000592782.1	+	3	282	c.151G>A	c.(151-153)Gac>Aac	p.D51N	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.D51N			P30419	NMT1_HUMAN	N-myristoyltransferase 1	51					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCCAGCCAATGACACTGGAGC	0.398000													5	31					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128796359	128796359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:128796359C>G	ENST00000280333.6	+	8	722	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	205					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TACACAGTCTCAAAAGCAGAA	0.388000													8	36					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150182	193150182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:193150182G>A	ENST00000367434.4	-	2	1266	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	171					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAAGTTTGCCGAATAGCTCTT	0.368000													14	78					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885279	50885279	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:50885279C>T	ENST00000404795.3	-	3	1079	c.687G>A	c.(685-687)tcG>tcA	p.S229S	DMRTA2_ENST00000418121.1_Silent_p.S229S	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	229	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CCTCTGGGGACGACGTCCCGG	0.706000													5	8					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60559988	60559988	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:60559988C>T	ENST00000373886.3	+	13	1764	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	BICC1_ENST00000263103.1_Missense_Mutation_p.S213L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	587					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATATCCACTTCATCACTTGGA	0.388000													8	18					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52199198	52199198	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:52199198G>A	ENST00000371471.2	-	2	593	c.168C>T	c.(166-168)gtC>gtT	p.V56V	ZNF217_ENST00000302342.3_Silent_p.V56V			O75362	ZN217_HUMAN	zinc finger protein 217	56					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGATTTGGATGACATTTTTTT	0.468000													8	89					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52366052	52366052	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:52366052C>G	ENST00000296585.5	+	17	2340	c.2197C>G	c.(2197-2199)Caa>Gaa	p.Q733E		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	733					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTAGTAAATCAAGCACAGAG	0.408000													12	53					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156693940	156693940	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:156693940C>T	ENST00000313146.6	-	2	1730	c.948_splice	c.e2+1	p.Q316_splice	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Splice_Site_p.Q316_splice	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	316	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGATGCTACCTGGATATCCC	0.572000													22	105					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85677393	85677393	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:85677393C>G	ENST00000316824.3	+	2	425	c.270C>G	c.(268-270)acC>acG	p.T90T		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	90					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCTTCACACCGAACTGAATA	0.453000													15	58					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31336820	31336820	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31336820G>C	ENST00000544665.3	+	21	2579		c.e21-1		ITGAM_ENST00000287497.8_Splice_Site	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGCCTTCCAGAACCAGCGCT	0.607000													20	63					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268852	57268852	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:57268852G>C	ENST00000339475.5	-	5	771	c.495C>G	c.(493-495)atC>atG	p.I165M	OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.I157M|OTX2_ENST00000555006.1_Missense_Mutation_p.I157M	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	157					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACAGTGGGGAGATGGAAGCTG	0.542000													13	37					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31837896	31837896	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:31837896G>C	ENST00000397525.1	-	17	2638	c.2415C>G	c.(2413-2415)ctC>ctG	p.L805L	EIF4ENIF1_ENST00000382180.2_Silent_p.L460L|EIF4ENIF1_ENST00000344710.5_Silent_p.L631L|EIF4ENIF1_ENST00000330125.5_Silent_p.L805L|EIF4ENIF1_ENST00000397523.1_Silent_p.L781L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	805						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACAGGGCGGAGAAAAGGTG	0.552000													10	94					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732104	92732104	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:92732104G>A	ENST00000379958.2	-	3	3576	c.3307C>T	c.(3307-3309)Cta>Tta	p.L1103L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1103						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCCAGTTTAGAGCATTGCCA	0.368000													13	59					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406785	105406785	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:105406785G>A	ENST00000333244.5	-	7	15122	c.15003C>T	c.(15001-15003)atC>atT	p.I5001I	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5001						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)			GATCCATGTGGATGGCAGACT	0.532000													13	71					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151006632	151006632	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:151006632C>G	ENST00000271620.3	+	8	1440	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	PRUNE_ENST00000368935.1_Silent_p.L143L|PRUNE_ENST00000271619.8_Silent_p.L216L|PRUNE_ENST00000368936.1_Silent_p.L246L|PRUNE_ENST00000368934.1_Silent_p.L193L|PRUNE_ENST00000368937.1_Silent_p.L193L	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	428						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCCTAAACTCTCTGCTGAGG	0.572000													41	167					0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28539078	28539078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:28539078G>A	ENST00000381020.7	-	2	2748	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	206					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CGACTGTAGTGAAACTCCTTC	0.602000			T	ETV6	AML								8	28					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85491874	85491874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:85491874C>G	ENST00000370587.1	-	9	1302	c.926G>C	c.(925-927)aGa>aCa	p.R309T	MCOLN3_ENST00000341115.4_Missense_Mutation_p.R253T|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Missense_Mutation_p.R309T			Q8TDD5	MCLN3_HUMAN	mucolipin 3	309						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTGAAGTCCTCTAATCACAGA	0.413000													4	55					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012229	29012229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:29012229C>T	ENST00000377175.1	-	1	788	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGATGAGATCCACAGGTATTC	0.438000													18	92					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634270	27634270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:27634270C>T	ENST00000305188.8	+	3	683	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	149					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGCTAAGTATCAACCAAAGTA	0.353000									SC Phocomelia syndrome				14	39					0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77769917	77769917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:77769917C>G	ENST00000269385.4	-	4	302	c.185G>C	c.(184-186)aGa>aCa	p.R62T	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	62	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCATCTCTCTTTCCCTGGA	0.488000													4	245					0	0	1	0	0
RAB11A	8766	broad.mit.edu	37	15	66180057	66180057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:66180057C>T	ENST00000261890.2	+	5	658	c.530C>T	c.(529-531)tCt>tTt	p.S177F	RAB11A_ENST00000569896.1_Intron|RAB11A_ENST00000564910.1_Missense_Mutation_p.S107F|RAB11A_ENST00000435304.2_Intron|RAB11A_ENST00000565075.1_Missense_Mutation_p.S159F	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	177					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						CGCATTGTTTCTCAGAAGCAA	0.378000													13	26					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64882110	64882110	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:64882110C>G	ENST00000555709.1	+	5	662	c.275C>G	c.(274-276)tCt>tGt	p.S92C	MTHFD1_ENST00000555252.1_Missense_Mutation_p.S72C|MTHFD1_ENST00000545908.1_Missense_Mutation_p.S148C|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S148C	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	92	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AATGAAGACTCTACTGTACAT	0.353000													26	94					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33173312	33173312	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33173312G>A	ENST00000374820.2	-	8	815	c.795C>T	c.(793-795)ttC>ttT	p.F265F	PIGU_ENST00000480175.1_Intron|PIGU_ENST00000452740.2_Silent_p.F285F			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	285					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AGAAGAGGCTGAAGTGCTCAA	0.428000													31	126					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5207951	5207951	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:5207951C>T	ENST00000372412.4	-	37	5996	c.5763G>A	c.(5761-5763)ccG>ccA	p.P1921P	PTPRS_ENST00000262963.6_Silent_p.P1900P|PTPRS_ENST00000592099.1_Silent_p.P1473P|PTPRS_ENST00000357368.4_Silent_p.P1920P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Silent_p.P1882P|PTPRS_ENST00000587303.1_Silent_p.P1920P|PTPRS_ENST00000588012.1_Silent_p.P1882P|PTPRS_ENST00000353284.2_Silent_p.P1473P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1920	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCACCATGGCCGGCCGCTGGG	0.607000													23	116					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144895848	144895848	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:144895848C>T	ENST00000356994.2	-	4	411	c.405G>A	c.(403-405)ctG>ctA	p.L135L	SCRIB_ENST00000377533.3_Silent_p.L54L|SCRIB_ENST00000320476.3_Silent_p.L135L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	135	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACACATCATTCAGGGCCAGGT	0.652000													13	64					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112159481	112159481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:112159481G>A	ENST00000455480.2	+	9	1269	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.M333I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.M333I	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	333							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCAGGATTATGAAAGCCCTTG	0.348000													11	39					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70926406	70926406	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:70926406G>A	ENST00000393567.2	-	56	9425	c.9275C>T	c.(9274-9276)tCa>tTa	p.S3092L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3092										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTAGGTGTTGAAATCCCTAC	0.428000													7	40					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648154	112648154	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:112648154C>G	ENST00000471858.1	-	3	566	c.334G>C	c.(334-336)Gat>Cat	p.D112H	CD200R1_ENST00000440122.2_Missense_Mutation_p.D135H|CD200R1_ENST00000490004.1_Missense_Mutation_p.D112H|CD200R1_ENST00000295863.4_Missense_Mutation_p.D90H|CD200R1_ENST00000308611.3_Missense_Mutation_p.D135H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	112	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GAATTCTGATCAGGTCTGGAG	0.463000													5	64					0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118184489	118184489	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:118184489C>T	ENST00000361763.4	+	7	711	c.420C>T	c.(418-420)atC>atT	p.I140I	CD3E_ENST00000528600.1_Silent_p.I134I	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	140					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	ACATCTGCATCACTGGGGGCT	0.572000													19	83					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81925936	81925936	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr10:81925936C>G	ENST00000438331.1	-	9	1244	c.762G>C	c.(760-762)ctG>ctC	p.L254L	ANXA11_ENST00000537102.1_Silent_p.L221L|ANXA11_ENST00000372231.3_Silent_p.L254L|ANXA11_ENST00000265447.4_Silent_p.L254L|ANXA11_ENST00000535999.1_Silent_p.L254L|ANXA11_ENST00000422982.3_Silent_p.L254L|ANXA11_ENST00000360615.4_Silent_p.L254L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	254					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTTCAGATTTCAGATCTTTGA	0.358000													11	31					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27419947	27419947	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:27419947C>G	ENST00000527372.1	-	33	5179	c.4999G>C	c.(4999-5001)Gat>Cat	p.D1667H	MYO18A_ENST00000354329.4_Missense_Mutation_p.D1667H|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1667H|MYO18A_ENST00000533112.1_Missense_Mutation_p.D1630H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1667					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCTGGGCATCTGCCAGCAGG	0.602000													19	84					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11098481	11098481	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:11098481C>T	ENST00000358026.2	+	6	1283	c.999C>T	c.(997-999)ccC>ccT	p.P333P	SMARCA4_ENST00000444061.3_Silent_p.P333P|SMARCA4_ENST00000590574.1_Silent_p.P333P|SMARCA4_ENST00000344626.4_Silent_p.P333P|SMARCA4_ENST00000413806.3_Silent_p.P333P|SMARCA4_ENST00000450717.3_Silent_p.P333P|SMARCA4_ENST00000541122.2_Silent_p.P333P|SMARCA4_ENST00000429416.3_Silent_p.P333P|SMARCA4_ENST00000589677.1_Silent_p.P333P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	333					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCAGTCCCCCGGGCAGCCGG	0.741000			"""F, N, Mis"""		NSCLC								3	18					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62034549	62034549	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr17:62034549G>A	ENST00000435607.1	-	13	2425	c.2349C>T	c.(2347-2349)ctC>ctT	p.L783L	SCN4A_ENST00000578147.1_Silent_p.L783L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	783					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCATGACCATGAGGAAGACGG	0.587000													17	58					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253533	65253533	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:65253533G>A	ENST00000455586.2	-	2	321	c.195C>T	c.(193-195)gtC>gtT	p.V65V	VSIG4_ENST00000374737.4_Silent_p.V65V|VSIG4_ENST00000412866.2_Silent_p.V65V	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	65	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAAGATGGTGACAGGGTCTG	0.547000													28	39					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64608224	64608224	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:64608224C>G	ENST00000357395.3	+	82	15441	c.4297C>G	c.(4297-4299)Caa>Gaa	p.Q1433E	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q5048E|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1433E|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q5048E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4965E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1682E			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5048					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCAGATATTCAAGAAAAACT	0.353000													10	60					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45744491	45744491	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr21:45744491G>A	ENST00000403390.1	+	18	1909	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	PFKL_ENST00000349048.4_Missense_Mutation_p.D590N			P17858	K6PL_HUMAN	phosphofructokinase, liver	590					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTGGGGGCCGACGCCGCCTA	0.647000													28	105					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152430	50152430	+	Silent	SNP	G	G	C	rs142681978		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:50152430G>C	ENST00000284509.6	-	28	3681	c.3540C>G	c.(3538-3540)acC>acG	p.T1180T	ATP8B4_ENST00000559829.1_Silent_p.T1180T	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1180					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGCTGCTCACGGTGTCTGTGG	0.393000													22	95					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200226	155200226	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:155200226C>T	ENST00000460012.1	-	23	3856	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1167K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1205K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1167K|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1205					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGTTGGTCTCATCAAACTGG	0.458000													7	69					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89867048	89867048	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr15:89867048G>C	ENST00000268124.5	-	12	2488	c.2155C>G	c.(2155-2157)Ctg>Gtg	p.L719V	POLG_ENST00000442287.2_Missense_Mutation_p.L719V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	719					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTGCTCACCAGAGCTAGGGGT	0.572000								DNA polymerases (catalytic subunits)					19	98					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318979	31318979	+	Silent	SNP	A	A	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:31318979A>G	ENST00000269197.5	+	11	1611	c.1611A>G	c.(1609-1611)ttA>ttG	p.L537L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCGATCAGTTAGAAGTCTGTG	0.403000													3	17					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172410875	172410875	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:172410875G>A	ENST00000367728.1	-	1	2351	c.888C>T	c.(886-888)ctC>ctT	p.L296L	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Silent_p.L296L|PIGC_ENST00000258324.1_Silent_p.L296L			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	296					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TAATTTAACTGAGGAACCTGG	0.398000													24	137					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039081	242039081	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:242039081G>T	ENST00000391980.2	-	2	308	c.250C>A	c.(250-252)Cct>Act	p.P84T	MTERFD2_ENST00000495694.1_Missense_Mutation_p.P84T|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.P84T	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	84										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TGTACCACAGGAGTCCCCTGC	0.493000													29	72					2.2171e-23	2.36373e-23	1	1	0
DPH5	51611	broad.mit.edu	37	1	101456010	101456010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:101456010G>A	ENST00000593496.1	+	1	250	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	DPH5_ENST00000342173.7_Missense_Mutation_p.S270F|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.S271F|DPH5_ENST00000370109.3_Missense_Mutation_p.S271F|DPH5_ENST00000427040.2_Missense_Mutation_p.S32F																							TTCTGGTATGGAAAACAGACT	0.393000													17	76					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059635	12059635	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12059635C>G	ENST00000482090.1	+	3	1160	c.742C>G	c.(742-744)Caa>Gaa	p.Q248E	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q266E|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGCTACCCTTCAAATACATGA	0.348000													7	36					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495222	228495222	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:228495222C>G	ENST00000570156.2	+	57	15401	c.15327C>G	c.(15325-15327)ctC>ctG	p.L5109L	OBSCN_ENST00000284548.11_Silent_p.L4152L|OBSCN_ENST00000366709.4_Silent_p.L1271L|OBSCN_ENST00000366707.4_Silent_p.L1786L|OBSCN_ENST00000422127.1_Silent_p.L4152L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4152					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCTCCCTCAGGGTCACAG	0.652000													8	5					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183095807	183095807	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:183095807C>T	ENST00000435564.1	-	5	717	c.517G>A	c.(517-519)Gag>Aag	p.E173K	PDE1A_ENST00000358139.2_Missense_Mutation_p.E173K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E69K|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.E173K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E173K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E157K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E173K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E139K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E157K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	173					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AGACTATGCTCTCCACTTGCT	0.338000													24	58					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49321937	49321937	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:49321937G>C	ENST00000351842.4	-	17	2219	c.2211C>G	c.(2209-2211)ctC>ctG	p.L737L	USP4_ENST00000265560.4_Silent_p.L784L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	784					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGGTGGTGAAGAGCTCGATGC	0.572000													30	81					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28666558	28666558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:28666558G>A	ENST00000280904.6	-	7	1366	c.923C>T	c.(922-924)tCa>tTa	p.S308L	DSC2_ENST00000251081.6_Missense_Mutation_p.S308L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	308	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAGCTGAGATGATGTTGTGGT	0.428000													22	107					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	427289	427289	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:427289C>T	ENST00000399788.2	-	19	3242	c.2880G>A	c.(2878-2880)aaG>aaA	p.K960K	KDM5A_ENST00000382815.4_Silent_p.K960K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	960					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTAGGCAGACCTTAGCCTTTT	0.473000			T	NUP98	AML								21	99					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51669689	51669689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:51669689G>A	ENST00000409535.1	+	9	1348	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R102K	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	408	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAGATGTACAGACTCCTCACT	0.493000													6	36					0	0	1	0	0
C5orf15	56951	broad.mit.edu	37	5	133295705	133295705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:133295705G>A	ENST00000231512.3	-	2	348	c.146C>T	c.(145-147)tCa>tTa	p.S49L	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	49						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			ATCAGTCCGTGATACAACTGA	0.368000													5	20					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77659919	77659919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:77659919C>T	ENST00000296043.6	+	5	1546	c.593C>T	c.(592-594)tCt>tTt	p.S198F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	198					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCAGCTCCTCTACTAGTGAC	0.517000													20	102					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34074029	34074029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr11:34074029C>T	ENST00000341394.4	+	2	251	c.62C>T	c.(61-63)tCg>tTg	p.S21L	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S21L|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S21L|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S21L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	21					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CCACCGCCGTCGGGTTCCTCC	0.716000													11	23					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216260110	216260110	+	Silent	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:216260110G>C	ENST00000366943.2	-	24	5324	c.4938C>G	c.(4936-4938)gtC>gtG	p.V1646V	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.V1646V|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1646	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCCAGAAAGACTCCTGTGT	0.428000										HNSCC(13;0.011)			7	27					0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41907899	41907899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:41907899G>C	ENST00000381647.2	+	2	181	c.162G>C	c.(160-162)gaG>gaC	p.E54D	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	54										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGGAGAAGAGAAAGAATGTT	0.363000													4	9					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028728	100028728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100028728C>T	ENST00000310512.2	+	1	1475	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	363							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCGACATCGCAAACGTCG	0.637000													19	208					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059292	12059292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:12059292C>G	ENST00000482090.1	+	3	817	c.399C>G	c.(397-399)caC>caG	p.H133Q	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.H151Q|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACACTGGACACAAGGCATATG	0.403000													45	204					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111562899	111562899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:111562899G>A	ENST00000389811.4	+	9	904	c.680G>A	c.(679-681)aGa>aAa	p.R227K	ACOXL_ENST00000439055.1_Missense_Mutation_p.R227K|ACOXL_ENST00000340561.4_Missense_Mutation_p.R227K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	227					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AAGAGTGCAAGATTCAATGCC	0.463000													17	79					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857687	28857687	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:28857687G>C	ENST00000357727.2	+	10	1644		c.e10-1		CREB5_ENST00000396300.2_Splice_Site|CREB5_ENST00000396299.2_Splice_Site|CREB5_ENST00000396298.2_Splice_Site|CREB5_ENST00000409603.1_Splice_Site	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATCTCTTTTAGAATGAAGTGT	0.393000													21	42					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587478	56587478	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr18:56587478C>G	ENST00000336078.4	+	4	2735	c.1959C>G	c.(1957-1959)ctC>ctG	p.L653L	ZNF532_ENST00000591808.1_Silent_p.L653L|ZNF532_ENST00000591083.1_Silent_p.L653L|ZNF532_ENST00000591230.1_Silent_p.L653L|ZNF532_ENST00000589288.1_Silent_p.L653L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAAGAACCTCGTTTTTTACA	0.493000													25	83					0	0	1	0	0
PDX1	3651	broad.mit.edu	37	13	28494641	28494641	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:28494641G>T	ENST00000381033.4	+	1	485	c.366G>T	c.(364-366)atG>atT	p.M122I	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	122					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TCCCATGGATGAAGTCTACCA	0.682000													5	12					0.014758	0.0148854	1	1	0
TOB2	10766	broad.mit.edu	37	22	41832836	41832836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr22:41832836G>C	ENST00000327492.3	-	2	1220	c.514C>G	c.(514-516)Cag>Gag	p.Q172E		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	172					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGATGGGCTGAGCGGAGCGG	0.622000													14	55					0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127607815	127607815	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:127607815G>A	ENST00000368314.1	+	3	481	c.57G>A	c.(55-57)agG>agA	p.R19R	RNF146_ENST00000309649.3_Silent_p.R18R|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_Silent_p.R18R	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	19					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CTACAAACAGGAAAGCGAACG	0.388000													16	76					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100284283	100284283	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:100284283G>C	ENST00000275732.5	-	7	1892	c.683C>G	c.(682-684)tCc>tGc	p.S228C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGGGCTGGCGGAGCGCCAGCG	0.692000													29	117					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77210788	77210788	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:77210788G>A	ENST00000248594.6	+	3	525	c.253G>A	c.(253-255)Gat>Aat	p.D85N	PTPN12_ENST00000435495.2_5'UTR|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	85	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCCTTCACAAGATTCAGACTA	0.294000													9	27					0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73254880	73254880	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:73254880C>A	ENST00000297873.4	-	4	302		c.e4-1			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GAGCCCGCAGCTGGGGTAGGG	0.662000													7	26					0.00448238	0.00453084	1	1	0
KIAA0319	9856	broad.mit.edu	37	6	24578429	24578429	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:24578429C>G	ENST00000535378.1	-	10	2029	c.1387G>C	c.(1387-1389)Gaa>Caa	p.E463Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E427Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E472Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E472Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	472	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCGTTTATTTCTTCCCAATGA	0.373000													9	44					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8588802	8588802	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:8588802C>T	ENST00000382487.4	+	3	1221	c.804C>T	c.(802-804)ttC>ttT	p.F268F	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	268					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCGTGCCCTTCGTCACCGTGA	0.657000													14	47					0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93576131	93576131	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:93576131C>T	ENST00000370298.4	+	3	523	c.234C>T	c.(232-234)atC>atT	p.I78I	MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000370303.4_Silent_p.I78I|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	78						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GCTGCTTCATCATATTTGAAG	0.299000													8	53					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828997	72828997	+	Silent	SNP	G	G	A	rs147845858		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:72828997G>A	ENST00000268489.5	-	9	8256	c.7584C>T	c.(7582-7584)atC>atT	p.I2528I	ZFHX3_ENST00000397992.5_Silent_p.I1614I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2528					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGGTAGGGGATTAGCTGAG	0.577000													4	104					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9426356	9426356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:9426356G>A	ENST00000345094.3	+	10	1842	c.1508G>A	c.(1507-1509)tGg>tAg	p.W503*	THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.W503*|THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.W503*|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	503							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAACTCTTTGGCAATGCAAA	0.398000													16	99					0	0	1	0	0
CASP6	839	broad.mit.edu	37	4	110618874	110618874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:110618874C>T	ENST00000265164.2	-	3	211	c.134G>A	c.(133-135)gGa>gAa	p.G45E	CASP6_ENST00000352981.3_Intron|CASP6_ENST00000505486.1_Missense_Mutation_p.G45E	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	45					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TAAAGCAATTCCTCTCCTCCT	0.408000													11	44					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162813634	162813634	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:162813634G>C	ENST00000375514.5	+	20	2907	c.2620G>C	c.(2620-2622)Gaa>Caa	p.E874Q	SLC4A10_ENST00000446997.1_Missense_Mutation_p.E893Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E863Q|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E893Q|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E863Q	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	893					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTGGAATCAGAATGCTCAGC	0.473000													14	28					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166890	151166890	+	Silent	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:151166890C>G	ENST00000282466.3	-	4	878	c.879G>C	c.(877-879)ctG>ctC	p.L293L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	293					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGAATAGTCAGGCTCTTTG	0.478000													20	101					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32653152	32653152	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr13:32653152C>G	ENST00000380250.3	+	2	748	c.252C>G	c.(250-252)atC>atG	p.I84M		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGATTCGTATCATTATGGCAG	0.408000													47	146					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341829	31341829	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:31341829C>T	ENST00000544665.3	+	28	3253	c.3182C>T	c.(3181-3183)tCg>tTg	p.S1061L	ITGAM_ENST00000287497.8_Missense_Mutation_p.S1060L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1060					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCACAGACCTCGCATAACCAC	0.607000													7	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063295	9063295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:9063295G>A	ENST00000397910.4	-	3	24354	c.24151C>T	c.(24151-24153)Cat>Tat	p.H8051Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8053	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAAGGATGAGTTTTCTCT	0.468000													23	65					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88483083	88483083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:88483083G>A	ENST00000552810.1	-	31	4098	c.3755C>T	c.(3754-3756)gCt>gTt	p.A1252V	CEP290_ENST00000397838.3_Missense_Mutation_p.A312V|CEP290_ENST00000309041.7_Missense_Mutation_p.A1254V|CEP290_ENST00000547691.2_Missense_Mutation_p.A312V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1252					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCCAAACGAGCATAATAGAG	0.438000													6	27					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219197	1219197	+	Silent	SNP	G	G	A	rs139510678		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr5:1219197G>A	ENST00000304460.10	+	9	1409	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	451					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATCCCCCCGAAGTGGCCCA	0.602000													3	17					0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99521203	99521203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:99521203C>T	ENST00000312891.2	-	2	804	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	269						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ctttgtttttcctgggctaag	0.418000													7	38					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33080393	33080393	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr20:33080393G>A	ENST00000374864.4	+	23	2620	c.2407G>A	c.(2407-2409)Gat>Aat	p.D803N	ITCH_ENST00000535650.1_Missense_Mutation_p.D693N|ITCH_ENST00000262650.6_Missense_Mutation_p.D844N	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	844	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGGATTTGCTGATCTCATGGG	0.353000													17	67					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219890755	219890755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr2:219890755C>T	ENST00000341552.5	-	14	2421	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	CCDC108_ENST00000441968.1_Missense_Mutation_p.D780N|CCDC108_ENST00000453220.1_Missense_Mutation_p.D780N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	780						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGACATCTAGGGAATAC	0.612000													7	58					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142204271	142204271	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr8:142204271G>C	ENST00000519811.1	+	23	3846	c.3776G>C	c.(3775-3777)aGa>aCa	p.R1259T	DENND3_ENST00000262585.2_Missense_Mutation_p.R1179T|DENND3_ENST00000424248.1_Missense_Mutation_p.R1127T|DENND3_ENST00000523308.1_Missense_Mutation_p.R229T			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1179										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGAGGACAGATACGTGCTG	0.577000													14	54					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151096	73151096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr9:73151096C>T	ENST00000377110.2	-	25	5140	c.4897G>A	c.(4897-4899)Gag>Aag	p.E1633K	TRPM3_ENST00000377105.1_Missense_Mutation_p.E1492K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1492K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1482K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1495K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1492K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1495K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1505K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1637K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1660K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1505K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1658						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTGGCGCGCTCTATCTTGGGA	0.547000													108	510					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14328027	14328027	+	Missense_Mutation	SNP	C	C	T	rs34690014		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:14328027C>T	ENST00000571589.1	+	9	890	c.718C>T	c.(718-720)Cct>Tct	p.P240S	MKL2_ENST00000573051.1_Missense_Mutation_p.P189S|MKL2_ENST00000572567.1_Missense_Mutation_p.P229S|MKL2_ENST00000574045.1_Missense_Mutation_p.P240S|MKL2_ENST00000318282.5_Missense_Mutation_p.P240S|MKL2_ENST00000341243.5_Missense_Mutation_p.P229S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	229					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCAACAGTTCCTGAATTCTT	0.468000													24	94					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53777156	53777156	+	Silent	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:53777156G>A	ENST00000426431.2	+	3	1464	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	SP1_ENST00000327443.4_Silent_p.Q475Q	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	475	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TCCAAGTTCAGAACCCACAAG	0.552000													23	140					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143212502	143212502	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:143212502C>A	ENST00000316549.6	-	11	1516	c.1308G>T	c.(1306-1308)atG>atT	p.M436I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	436					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TACCTGAAAACATCATCATGT	0.403000													15	59					1.3612e-06	1.40477e-06	1	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148787899	148787899	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr4:148787899C>T	ENST00000336498.3	+	7	873	c.634C>T	c.(634-636)Cat>Tat	p.H212Y		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	212	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TACCTTCTATCATCAGGGCCA	0.338000											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	57					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955672	51955672	+	Silent	SNP	C	C	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr19:51955672C>T	ENST00000321424.3	-	7	1527	c.1461G>A	c.(1459-1461)ttG>ttA	p.L487L	SIGLEC8_ENST00000430817.1_Silent_p.L378L|SIGLEC8_ENST00000340550.5_Silent_p.L394L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	487					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGATTCCTCAAACAGGCCT	0.532000													38	73					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617000													9	50					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231069590	231069590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:231069590G>C	ENST00000366661.4	-	9	925	c.918C>G	c.(916-918)ttC>ttG	p.F306L	TTC13_ENST00000366662.4_Missense_Mutation_p.F253L|TTC13_ENST00000414259.1_Missense_Mutation_p.F253L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	306							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AAGCTTCTTTGAAGGATTCAA	0.303000													11	54					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442910	44442910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:44442910delC	ENST00000532642.1	+	7	710	c.613delC	c.(613-615)ctfs	p.P205fs	ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron|ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000471859.2_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	110					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTTGGGAAGCCTCTGTGTCC	0.502													12	60	---	---	---	---					
GSTM4	2948	broad.mit.edu	37	1	110201819	110201819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:110201819delG	ENST00000369833.1	+	5	1445	c.531delG	c.(529-531)aafs	p.K177fs	GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000369836.4_Intron|GSTM4_ENST00000336075.5_Intron|GSTM4_ENST00000495742.1_Intron			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCTACATAaagaataacttgc	0.468													7	65	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													3	3	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	9	---	---	---	---					
PARK2	5071	broad.mit.edu	37	6	161966456	161966456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr6:161966456delC	ENST00000366892.1	-	10	1192	c.1097delG	c.(1096-1098)aafs	p.R366fs	PARK2_ENST00000366897.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366898.1_Intron			O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	0			R -> W (in dbSNP:rs56092260).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		ttattttgttcttcgttgtcc	0.373													10	28	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													5	1	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104753026	104753027	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr7:104753026_104753027insT	ENST00000334877.4	+	26	5231_5232	c.4697_4698insT	c.(4696-4698)cttfs	p.L1566fs	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.L1608fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.L1608fs					lysine (K)-specific methyltransferase 2E																		ACTCCAGGGCATTTTTTGCCCT	0.535													18	117	---	---	---	---					
UNG	7374	broad.mit.edu	37	12	109536374	109536375	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:109536374_109536375insC	ENST00000336865.2	+	1	452_453	c.243_244insC	c.(241-246)gtccgtfs	p.R82fs	UNG_ENST00000242576.2_Frame_Shift_Ins_p.R91fs	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	91					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCGCAACGTGCCCGTGGGCTT	0.604								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				15	153	---	---	---	---					
FBXW8	26259	broad.mit.edu	37	12	117387508	117387509	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr12:117387508_117387509insG	ENST00000455858.2	+	4	549_550	c.476_477insG	c.(475-477)gggfs	p.G159fs	FBXW8_ENST00000309909.5_Frame_Shift_Ins_p.G225fs	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	225	F-box.						protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGGTCATTGCGGGGTAAGCCA	0.495													29	82	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23447576	23447579	+	Frame_Shift_Del	DEL	TGGG	TGGG	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr14:23447576_23447579delTGGG	ENST00000262713.2	-	2	1457_1460	c.1082_1085delCCCA	c.(1081-1086)agfs	p.TQ361fs	AJUBA_ENST00000361265.4_Frame_Shift_Del_p.TQ361fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	361	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										AACAAAGCACTGGGTGTGGTAGAG	0.534													31	178	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													19	269	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226616	88226618	+	RNA	DEL	TGA	TGA	-	rs149645617	by1000genomes	TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chr16:88226616_88226618delTGA	ENST00000568587.1	-	0	91																											gtgatggtggtgatggtggtggt	0.527													3	5	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283695	67283695	+	Splice_Site	DEL	C	C	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:67283695delC	ENST00000355520.5	-	21	2800		c.e21+1		OPHN1_ENST00000484842.1_Intron|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAAGCACTTACCCTCCTTGTG	0.532													2	4	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	25	---	---	---	---					
GYG2P1	352887	broad.mit.edu	37	Y	14499036	14499036	+	RNA	DEL	A	A	-			TCGA-CV-A6K2-01A-11D-A31L-08	TCGA-CV-A6K2-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3012cce3-4f20-4df0-8ae3-05782185a20a	c5abc4a5-5575-4ff1-8bc9-ea85dda8e3d8	g.chrY:14499036delA	ENST00000493160.1	-	0	802																											AGTTTTCCACAAGCAACATCT	0.572													2	4	---	---	---	---