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
CASP8	841	broad.mit.edu	37	2	202131238	202131238	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:202131238T>C	ENST00000358485.4	+	2	402	c.206T>C	c.(205-207)aTt>aCt	p.I69T	CASP8_ENST00000323492.7_Missense_Mutation_p.I10T|CASP8_ENST00000264274.9_Missense_Mutation_p.I10T|CASP8_ENST00000432109.2_Missense_Mutation_p.I10T|CASP8_ENST00000392259.2_Missense_Mutation_p.I10T|CASP8_ENST00000392266.3_Missense_Mutation_p.I10T|CASP8_ENST00000392258.3_Missense_Mutation_p.I10T|CASP8_ENST00000264275.5_Missense_Mutation_p.I10T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	10	DED 1.				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	p.I10T(2)|p.I69T(1)		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						CTTTATGATATTGGGGAACAA	0.408000										HNSCC(4;0.00038)			6	60					0	0	0.029380	0	0
CREBBP	1387	broad.mit.edu	37	16	3817750	3817750	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:3817750G>C	ENST00000262367.5	-	16	4030	c.3221C>G	c.(3220-3222)tCa>tGa	p.S1074*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1036*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1074					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.S1074*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGAGATGTTGACTGAGAGGC	0.428000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						11	138					0	0	0.093190	0	0
APOL1	8542	broad.mit.edu	37	22	36661781	36661781	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:36661781C>T	ENST00000319136.4	+	7	1214	c.947C>T	c.(946-948)tCa>tTa	p.S316L	APOL1_ENST00000347595.7_Missense_Mutation_p.S179L|APOL1_ENST00000397279.4_Missense_Mutation_p.S300L|APOL1_ENST00000397278.3_Missense_Mutation_p.S300L|APOL1_ENST00000426053.1_Missense_Mutation_p.S282L|APOL1_ENST00000422706.1_Missense_Mutation_p.S300L	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	300					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.S316L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CCGCATGCCTCAGCCTCACGC	0.557000													7	60					0	0	0.038147	0	0
MAGI3	260425	broad.mit.edu	37	1	114201796	114201796	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:114201796G>C	ENST00000369615.1	+	16	2786	c.2724G>C	c.(2722-2724)ggG>ggC	p.G908G	MAGI3_ENST00000369611.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G908G|MAGI3_ENST00000369617.4_Silent_p.G933G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	933	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.G908G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGAATGGGCAGTCCATTG	0.453000													11	93					0	0	0.069234	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227227863	227227863	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:227227863C>G	ENST00000366769.3	-	23	4354	c.3063G>C	c.(3061-3063)gtG>gtC	p.V1021V	CDC42BPA_ENST00000334218.5_Silent_p.V1021V|CDC42BPA_ENST00000535525.1_Silent_p.V1001V|CDC42BPA_ENST00000366767.3_Silent_p.V940V|CDC42BPA_ENST00000366765.3_Silent_p.V1034V|CDC42BPA_ENST00000366766.2_Silent_p.V1056V|CDC42BPA_ENST00000366764.2_Silent_p.V993V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1034					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.V940V(1)|p.V1056V(1)|p.V1021V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTATTAAACCCACCATCAAGG	0.343000													8	58					0	0	0.047766	0	0
ZFHX3	463	broad.mit.edu	37	16	72992721	72992721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:72992721C>T	ENST00000268489.5	-	2	1996	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	442					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	p.E442K(1)		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)				TCCTGCTTCTCTCCTTCTGCC	0.612000													13	111					0	0	0.146539	0	0
EIF4G3	8672	broad.mit.edu	37	1	21221934	21221934	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:21221934T>C	ENST00000602326.1	-	15	2493	c.1910A>G	c.(1909-1911)gAc>gGc	p.D637G	EIF4G3_ENST00000544689.1_Missense_Mutation_p.D174G|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D84G|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D637G|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D631G|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D631G|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D351G|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D235G	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	631					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.D631G(1)|p.D637G(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GAACTGGAAGTCCAGCAGAAA	0.463000													7	72					0	0	0.047766	0	0
RYR2	6262	broad.mit.edu	37	1	237756804	237756804	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:237756804G>A	ENST00000366574.2	+	33	4621	c.4304G>A	c.(4303-4305)gGa>gAa	p.G1435E	RYR2_ENST00000360064.6_Missense_Mutation_p.G1433E|RYR2_ENST00000542537.1_Missense_Mutation_p.G1419E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1435	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1433E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCTTTCCTGGACAAGAACCT	0.393000													6	49					0	0	0.029380	0	0
ABCC8	6833	broad.mit.edu	37	11	17474774	17474774	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:17474774G>A	ENST00000302539.4	-	7	1193	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ABCC8_ENST00000389817.3_Silent_p.Y356Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	356	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.Y356Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGCTAAGACGTAGGCATTGG	0.458000													4	70					0	0	0.014758	0	0
SORCS3	22986	broad.mit.edu	37	10	106982877	106982877	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:106982877C>A	ENST00000369701.3	+	20	2965	c.2738C>A	c.(2737-2739)cCt>cAt	p.P913H	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	913	PKD.					integral to membrane	neuropeptide receptor activity	p.P913H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCTTAGGTCCTGTGGAGCAT	0.428000													10	83					7.48243e-07	8.42152e-07	0.058154	1	0
SCNN1A	6337	broad.mit.edu	37	12	6483849	6483849	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:6483849T>C	ENST00000358945.3	-	1	541	c.101A>G	c.(100-102)gAa>gGa	p.E34G	SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Missense_Mutation_p.E34G|SCNN1A_ENST00000396966.2_Missense_Mutation_p.E34G|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E57G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E93G			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	34					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.E34G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGCCGCAGGTTCGGGGCCCAG	0.642000													3	34					0	0	0.115264	0	0
ZNF263	10127	broad.mit.edu	37	16	3339743	3339743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:3339743G>T	ENST00000219069.5	+	6	2113	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	ZNF263_ENST00000538765.1_Nonsense_Mutation_p.E61*|ZNF263_ENST00000574253.1_3'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	413					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E413*(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGACTGCACTGAAATCTTTGG	0.473000													9	91					3.09899e-07	3.5164e-07	0.047766	1	0
DOCK8	81704	broad.mit.edu	37	9	434792	434792	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:434792G>A	ENST00000432829.2	+	39	5008	c.4692G>A	c.(4690-4692)aaG>aaA	p.K1564K	DOCK8_ENST00000453981.1_Silent_p.K1632K|DOCK8_ENST00000469391.1_Silent_p.K1532K|DOCK8_ENST00000382329.1_Silent_p.K1099K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1632	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.K1564K(1)|p.K1632K(1)		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)		GAATTGCCAAGAGTTACCAGG	0.478000													5	41					0	0	0.014758	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704277	117704277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:117704277G>A	ENST00000355044.3	+	29	4253	c.4127G>A	c.(4126-4128)gGa>gAa	p.G1376E	ATRNL1_ENST00000423111.2_Missense_Mutation_p.G427E|ATRNL1_ENST00000303745.7_Missense_Mutation_p.G169E	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1376						integral to membrane	sugar binding	p.G1376E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACACGTCAAGGAACTTGTGTC	0.413000													14	91					0	0	0.132662	0	0
SLC35E2	9906	broad.mit.edu	37	1	1669760	1669760	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:1669760C>A	ENST00000355439.2	-	5	1346	c.586G>T	c.(586-588)Gga>Tga	p.G196*	SLC35E2_ENST00000400924.1_Splice_Site_p.G196*|SLC35E2_ENST00000246421.4_Splice_Site_p.G196*	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	196						integral to membrane		p.G196*(1)		endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGGCCTCACCTGTGTACTCC	0.647000													4	11					0.000602214	0.000638991	0.014758	1	0
SMYD1	150572	broad.mit.edu	37	2	88387407	88387407	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:88387407T>G	ENST00000419482.2	+	3	426	c.341T>G	c.(340-342)gTg>gGg	p.V114G	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.V114G|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.V114G(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ATGTGGCGGGTGGAGAGAGAA	0.612000													3	3					0	0	0.021553	0	0
FOXK2	3607	broad.mit.edu	37	17	80529635	80529635	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:80529635G>C	ENST00000335255.5	+	4	972	c.798G>C	c.(796-798)ctG>ctC	p.L266L		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	266					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L266L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACGCGCAGCTGATAGTTCAGG	0.398000													7	52					0	0	0.038147	0	0
TNNI2	7136	broad.mit.edu	37	11	1861878	1861878	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:1861878G>A	ENST00000381906.1	+	5	247	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	TNNI2_ENST00000381905.3_Missense_Mutation_p.E60K|TNNI2_ENST00000381911.1_Missense_Mutation_p.E60K|TNNI2_ENST00000252898.7_Missense_Mutation_p.E60K	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	60					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	p.E60K(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTCCATGTCTGAAGTGCAGGT	0.667000													4	32					0	0	0.014758	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336359	104336359	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336359G>T	ENST00000299767.5	+	12	1611	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	477					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	p.D477Y(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GAAGATTGCTGATGATAAATA	0.363000													4	59					0.00909568	0.00954188	0.150653	1	0
WDR96	80217	broad.mit.edu	37	10	105953694	105953694	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:105953694C>T	ENST00000357060.3	-	11	1487	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I	WDR96_ENST00000428666.1_Missense_Mutation_p.V459I|WDR96_ENST00000278064.2_Missense_Mutation_p.V389I|WDR96_ENST00000369720.1_Missense_Mutation_p.V389I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	458								p.V458I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTATCATATACGCTGATGAAG	0.552000													11	58					0	0	0.069234	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373237	129373237	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:129373237G>A	ENST00000442111.2	+	3	359	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	GLT1D1_ENST00000537468.1_Missense_Mutation_p.A80T|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.A91T			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	91					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.A91T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAATGAAGATGCCAACCAGGC	0.438000													4	23					0	0	0.150653	0	0
TCF20	6942	broad.mit.edu	37	22	42609633	42609633	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:42609633G>A	ENST00000359486.3	-	1	1815	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	TCF20_ENST00000335626.4_Missense_Mutation_p.P560L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.P560L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACCTTGTGCCGGTGAGGAGCC	0.577000													18	82					0	0	0.160694	0	0
ZNF296	162979	broad.mit.edu	37	19	45575216	45575216	+	Silent	SNP	C	C	A	rs141004234	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:45575216C>A	ENST00000303809.2	-	3	1285	c.1071G>T	c.(1069-1071)acG>acT	p.T357T		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	357					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T357T(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						TTCTTTGTTCCGTGGTGATGG	0.652000													4	163					0.014758	0.0154238	0.014758	1	0
ETV6	2120	broad.mit.edu	37	12	12037408	12037408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:12037408C>T	ENST00000396373.4	+	6	1313	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	347						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q347*(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTACGTCTATCAGTTGCTTTC	0.443000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								14	136					0	0	0.146539	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219951	130219951	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:130219951A>T	ENST00000276211.5	+	9	1514	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.K254I|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.K378I	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	390	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.K390I(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTCCTGAAAAAAGGAAAGTTT	0.468000													7	120					0	0	0.029380	0	0
SLC30A9	10463	broad.mit.edu	37	4	42069148	42069148	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:42069148T>C	ENST00000264451.7	+	14	1371	c.1191T>C	c.(1189-1191)gaT>gaC	p.D397D		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.D397D(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATTGGAGGATACTGCTGCAG	0.353000													5	110					0	0	0.021553	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092341	30092341	+	RNA	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:30092341C>G	ENST00000567636.1	+	0	716					NR_003558.1																						ACCTCCAACTCAGGCAGTTTC	0.537000													4	26					0	0	0.150653	0	0
CAV1	857	broad.mit.edu	37	7	116166725	116166725	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:116166725C>G	ENST00000341049.2	+	2	455	c.177C>G	c.(175-177)ctC>ctG	p.L59L	CAV1_ENST00000393467.1_Silent_p.L28L|CAV1_ENST00000393470.1_Silent_p.L48L|CAV1_ENST00000393468.1_Silent_p.L28L|CAV1_ENST00000405348.1_Silent_p.L28L	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	59					blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding	p.L59L(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CTAAACACCTCAACGATGACG	0.577000											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	45					0	0	0.115264	0	0
CLEC1B	51266	broad.mit.edu	37	12	10149501	10149501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:10149501G>A	ENST00000428126.2	-	5	552	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	CLEC1B_ENST00000348658.4_Nonsense_Mutation_p.Q95*|CLEC1B_ENST00000298527.6_Nonsense_Mutation_p.Q128*			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	128					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.Q32*(1)|p.Q128*(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GTGCAGTACTGCTTACTCTCT	0.423000													6	127					0	0	0.021553	0	0
CHN2	1124	broad.mit.edu	37	7	29539546	29539546	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:29539546T>C	ENST00000222792.6	+	9	1333	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CHN2_ENST00000424025.2_Missense_Mutation_p.L87P|CHN2_ENST00000546235.1_Missense_Mutation_p.L253P|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.L132P|CHN2_ENST00000539389.1_Missense_Mutation_p.L124P|CHN2_ENST00000409041.4_Missense_Mutation_p.L132P|CHN2_ENST00000539406.1_Missense_Mutation_p.L343P|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.L281P|CHN2_ENST00000410098.1_3'UTR	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	268					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.L268P(1)|p.L132P(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CAACCTGATCTCAAGAGGATC	0.468000													12	46					0	0	0.080935	0	0
FAT3	120114	broad.mit.edu	37	11	92087450	92087450	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:92087450T>G	ENST00000298047.6	+	1	2189	c.2172T>G	c.(2170-2172)taT>taG	p.Y724*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y724*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.Y724*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y574*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	724					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Y724*(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGACCATATTTTGACAAGT	0.403000										TCGA Ovarian(4;0.039)			18	155					0	0	0.055883	0	0
CLDN2	9075	broad.mit.edu	37	X	106171926	106171926	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:106171926G>A	ENST00000541806.1	+	2	987	c.468G>A	c.(466-468)atG>atA	p.M156I	CLDN2_ENST00000540876.1_Missense_Mutation_p.M156I|CLDN2_ENST00000336803.1_Missense_Mutation_p.M156I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	156					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M156I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGACAGCATGAAATTTGAGA	0.478000													14	63					0	0	0.105934	0	0
MYO9B	4650	broad.mit.edu	37	19	17263473	17263473	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:17263473C>G	ENST00000595618.1	+	4	1107	c.955C>G	c.(955-957)Ctg>Gtg	p.L319V	CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.L319V|MYO9B_ENST00000397274.2_Missense_Mutation_p.L319V|CTD-3032J10.2_ENST00000599360.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	319	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.L319V(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGAGAAATATCTGCTTGAAAA	0.378000													4	35					0	0	0.021553	0	0
SMPD1	6609	broad.mit.edu	37	11	6415196	6415196	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:6415196G>A	ENST00000342245.4	+	5	1579	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SMPD1_ENST00000356761.2_Missense_Mutation_p.E415K|SMPD1_ENST00000299397.3_Missense_Mutation_p.E427K|SMPD1_ENST00000527275.1_Missense_Mutation_p.E470K	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	469					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.E427K(1)|p.E471K(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CTTCTATGATGAAGAGACTCT	0.527000													7	65					0	0	0.029380	0	0
AK9	221264	broad.mit.edu	37	6	109996891	109996891	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:109996891C>T	ENST00000424296.2	-	2	134	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.E20K|AK9_ENST00000368948.2_Missense_Mutation_p.E20K	NM_001145128.2	NP_001138600.2			adenylate kinase 9									p.E20K(2)									CTTTCAGTTTCATCTTCATCA	0.289000													4	27					0	0	0.150653	0	0
KCNAB1	7881	broad.mit.edu	37	3	156234066	156234066	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:156234066C>T	ENST00000302490.8	+	11	1690	c.819C>T	c.(817-819)ggC>ggT	p.G273G	KCNAB1_ENST00000389636.5_Silent_p.G262G|KCNAB1_ENST00000471742.1_Silent_p.G280G|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Silent_p.G244G|KCNAB1_ENST00000490337.1_Silent_p.G291G	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	291						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.G291G(1)|p.G273G(1)|p.G280G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAGGTGTTGGCGCAATGACAT	0.453000													5	45					0	0	0.014758	0	0
CCDC67	159989	broad.mit.edu	37	11	93103298	93103298	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:93103298G>C	ENST00000298050.3	+	6	592	c.492G>C	c.(490-492)ctG>ctC	p.L164L		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	164								p.L156L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGACTCATCTGATTTCTTTAG	0.289000													5	14					0	0	0.014758	0	0
SP2	6668	broad.mit.edu	37	17	46000404	46000404	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:46000404C>T	ENST00000376741.4	+	4	1273	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	379					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	p.T379I(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCTGCAGCCACCTCTAACACC	0.587000													13	69					0	0	0.105934	0	0
FNTA	2339	broad.mit.edu	37	8	42939973	42939973	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:42939973G>A	ENST00000529687.1	+	8	1401	c.513G>A	c.(511-513)atG>atA	p.M171I	FNTA_ENST00000342116.4_Missense_Mutation_p.M255I|FNTA_ENST00000302279.3_Missense_Mutation_p.M322I			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	322					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	p.M322I(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATGAAGACATGCTAGAAAATC	0.358000													4	71					0	0	0.021553	0	0
PRPH2	5961	broad.mit.edu	37	6	42672298	42672298	+	Silent	SNP	G	G	A	rs61755799		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:42672298G>A	ENST00000230381.5	-	2	872	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	211			F -> L (in RP7).		cell adhesion|visual perception	integral to membrane		p.F211F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGCAGCAGCTGAAAGGGACGC	0.562000													5	51					0	0	0.014758	0	0
PCF11	51585	broad.mit.edu	37	11	82877725	82877725	+	Silent	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:82877725A>C	ENST00000298281.4	+	5	2238	c.1786A>C	c.(1786-1788)Aga>Cga	p.R596R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.R695R(1)|p.R596R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCTGCCAAAAGATGGAAATC	0.348000													4	75					0	0	0.014758	0	0
PTGIR	5739	broad.mit.edu	37	19	47124901	47124901	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:47124901G>C	ENST00000291294.2	-	3	930	c.797C>G	c.(796-798)cCt>cGt	p.P266R	PTGIR_ENST00000597185.1_5'UTR|PTGIR_ENST00000598865.1_Missense_Mutation_p.P54R|PTGIR_ENST00000594275.1_Missense_Mutation_p.P23R	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	266					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	p.P266R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCTGCTGTCAGGGGCGACAGC	0.642000													10	32					0	0	0.069234	0	0
OR51S1	119692	broad.mit.edu	37	11	4869937	4869937	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:4869937G>A	ENST00000322101.2	-	1	577	c.502C>T	c.(502-504)Cca>Tca	p.P168S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P168S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGAATGGCAGGGGCAGA	0.552000													5	92					0	0	0.029380	0	0
NF2	4771	broad.mit.edu	37	22	30057255	30057255	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:30057255C>T	ENST00000338641.4	+	8	1178	c.737C>T	c.(736-738)cCt>cTt	p.P246L	NF2_ENST00000397789.3_Missense_Mutation_p.P246L|NF2_ENST00000353887.4_Missense_Mutation_p.P163L|NF2_ENST00000403435.1_Missense_Mutation_p.P246L|NF2_ENST00000347330.5_Missense_Mutation_p.P87L|NF2_ENST00000403999.3_Missense_Mutation_p.P246L|NF2_ENST00000334961.7_Missense_Mutation_p.P163L|NF2_ENST00000361452.4_Missense_Mutation_p.P205L|NF2_ENST00000361166.4_Missense_Mutation_p.P246L|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.P204L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	246	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.P246L(2)|p.L232_P257del(1)|p.P246fs*5(1)|p.D245fs*31(1)|p.N226_E270del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATTTATGACCCTGAGAACAGA	0.502000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				11	114					0	0	0.080935	0	0
CCDC18	343099	broad.mit.edu	37	1	93683394	93683394	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:93683394C>A	ENST00000343253.7	+	14	2429	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q762K|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q644K			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	643								p.Q762K(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCACTTGGAACAGCATAAAGA	0.303000													4	42					0.150653	0.154545	0.150653	1	0
ARID5B	84159	broad.mit.edu	37	10	63829550	63829550	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:63829550A>G	ENST00000279873.7	+	8	1603	c.1193A>G	c.(1192-1194)tAt>tGt	p.Y398C	ARID5B_ENST00000309334.5_Missense_Mutation_p.Y155C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	398	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.Y398C(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CGCAGACATTATGAAAGGTAA	0.418000													4	31					0	0	0.014758	0	0
DLX3	1747	broad.mit.edu	37	17	48072068	48072068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:48072068G>A	ENST00000434704.2	-	1	520	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R99W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGCTGCTCCCGATACGCCCCG	0.627000													8	29					0	0	0.047766	0	0
STXBP3	6814	broad.mit.edu	37	1	109342863	109342863	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:109342863G>A	ENST00000370008.3	+	17	1521	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	491					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	p.D491N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TAATAGATTAGATTCAAAAGA	0.338000													9	42					0	0	0.047766	0	0
HEPH	9843	broad.mit.edu	37	X	65486316	65486316	+	Silent	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:65486316G>T	ENST00000519389.1	+	21	3620	c.3441G>T	c.(3439-3441)gtG>gtT	p.V1147V	HEPH_ENST00000441993.2_Silent_p.V1095V|HEPH_ENST00000336279.5_Silent_p.V826V|HEPH_ENST00000419594.1_Silent_p.V904V|HEPH_ENST00000343002.2_Silent_p.V1093V|HEPH_ENST00000374727.3_Silent_p.V1096V			Q9BQS7	HEPH_HUMAN	hephaestin	1093					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.V1093V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGGCAATGTGAAGATGCTGG	0.463000													3	32					0.115264	0.11912	0.115264	1	0
SLC22A13	9390	broad.mit.edu	37	3	38318947	38318947	+	Silent	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:38318947A>G	ENST00000311856.4	+	10	1696	c.1647A>G	c.(1645-1647)acA>acG	p.T549T		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	549						integral to plasma membrane	organic cation transmembrane transporter activity	p.T549T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGAGCAGCACATACTTCTGAT	0.562000													6	67					0	0	0.021553	0	0
LRP6	4040	broad.mit.edu	37	12	12334021	12334021	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:12334021C>A	ENST00000261349.4	-	6	1405	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	LRP6_ENST00000543091.1_Missense_Mutation_p.E443D	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	443	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.E443D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCTCTAAGTCCTCTGAAATCA	0.448000													3	64					0.115264	0.11912	0.115264	1	0
UGDH	7358	broad.mit.edu	37	4	39523129	39523129	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:39523129A>G	ENST00000316423.6	-	2	346	c.4T>C	c.(4-6)Ttt>Ctt	p.F2L	UGDH_ENST00000506179.1_Missense_Mutation_p.F2L|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.F2L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	2					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.F2L(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTAATTTCAAACATGATTGTA	0.333000													3	58					0	0	0.115264	0	0
TDRD7	23424	broad.mit.edu	37	9	100249560	100249560	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:100249560C>T	ENST00000355295.4	+	16	3317	c.3022C>T	c.(3022-3024)Cta>Tta	p.L1008L	TDRD7_ENST00000540902.1_Silent_p.L328L|TDRD7_ENST00000422139.2_Silent_p.L934L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1008	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	p.L1008L(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGTACAGCCCCTAGTGGACAT	0.433000													8	78					0	0	0.038147	0	0
ABCA9	10350	broad.mit.edu	37	17	67045523	67045523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67045523C>T	ENST00000340001.4	-	3	416	c.205G>A	c.(205-207)Gat>Aat	p.D69N	ABCA9_ENST00000453985.2_Missense_Mutation_p.D69N|ABCA9_ENST00000370732.2_Missense_Mutation_p.D69N|ABCA9_ENST00000495634.1_Missense_Mutation_p.D69N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	69					transport	integral to membrane	ATP binding|ATPase activity	p.D69N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTAAAACTATCTACACGTCCC	0.363000													14	85					0	0	0.119110	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:153247366C>G	ENST00000281708.4	-	10	2665	c.1436G>C	c.(1435-1437)cGa>cCa	p.R479P	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479P|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								5	59					0	0	0.014758	0	0
ERG	2078	broad.mit.edu	37	21	39755633	39755633	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:39755633T>C	ENST00000442448.1	-	11	1352	c.1081A>G	c.(1081-1083)Atg>Gtg	p.M361V	ERG_ENST00000288319.7_Missense_Mutation_p.M378V|ERG_ENST00000398905.1_Missense_Mutation_p.M354V|ERG_ENST00000417133.2_Missense_Mutation_p.M385V|ERG_ENST00000398911.1_Missense_Mutation_p.M361V|ERG_ENST00000398919.2_Missense_Mutation_p.M385V|ERG_ENST00000398897.1_Missense_Mutation_p.M262V|ERG_ENST00000453032.2_Missense_Mutation_p.M286V|ERG_ENST00000398907.1_Missense_Mutation_p.M355V|ERG_ENST00000398910.1_Missense_Mutation_p.M362V	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	385					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.M385V(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ACCTTGGTCATGATGTTCTTG	0.592000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								10	85					0	0	0.069234	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821761	10821761	+	Silent	SNP	T	T	C	rs140144694		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:10821761T>C	ENST00000526148.1	-	18	2505	c.1995A>G	c.(1993-1995)ctA>ctG	p.L665L	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L627L|EIF4G2_ENST00000525681.1_Silent_p.L665L|EIF4G2_ENST00000339995.5_Silent_p.L665L	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	665	MI.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L665L(1)		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)		TGCCACTTTCTAGTGGTTGAG	0.423000													11	49					0	0	0.069234	0	0
PTPRH	5794	broad.mit.edu	37	19	55696892	55696892	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:55696892C>T	ENST00000376350.3	-	18	3062	c.3040G>A	c.(3040-3042)Ggc>Agc	p.G1014S	PTPRH_ENST00000263434.5_Missense_Mutation_p.G836S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1014	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1014S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGGGTGGGCCTCCCTCCATG	0.632000													3	18					0	0	0.115264	0	0
C9orf3	84909	broad.mit.edu	37	9	97767884	97767884	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:97767884G>C	ENST00000375315.2	+	12	2101	c.2101G>C	c.(2101-2103)Gag>Cag	p.E701Q	C9orf3_ENST00000425634.2_Missense_Mutation_p.E63Q|C9orf3_ENST00000297979.5_Missense_Mutation_p.E602Q|C9orf3_ENST00000433691.2_Missense_Mutation_p.E42Q	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	701					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E602Q(1)|p.E701Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAGAAGGAAGAGGTGTTTGA	0.522000													8	59					0	0	0.038147	0	0
DARS	1615	broad.mit.edu	37	2	136673932	136673932	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:136673932C>T	ENST00000264161.4	-	11	1185	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	DARS_ENST00000537273.1_Missense_Mutation_p.E224K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	324					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	p.E324K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GTTTGAATTTCAGTCTGAAAC	0.348000													7	87					0	0	0.038147	0	0
KCNH6	81033	broad.mit.edu	37	17	61623123	61623123	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:61623123C>G	ENST00000583023.1	+	14	2856	c.2845C>G	c.(2845-2847)Cta>Gta	p.L949V	KCNH6_ENST00000456941.2_Missense_Mutation_p.L860V|KCNH6_ENST00000314672.5_Missense_Mutation_p.L913V|KCNH6_ENST00000581784.1_Missense_Mutation_p.L860V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	949					regulation of transcription, DNA-dependent|signal transduction			p.L949V(1)|p.L949I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGCCTCACCTCTACATCCCCT	0.587000													9	99					0	0	0.047766	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563828	156563828	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:156563828G>A	ENST00000368234.3	+	6	806	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	APOA1BP_ENST00000368235.3_Silent_p.L273L			Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	172	YjeF N-terminal.					extracellular region	protein binding	p.L273L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTACCAGCTGAACCTGCCAC	0.547000													7	106					0	0	0.069234	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178082493	178082493	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:178082493C>T	ENST00000411529.2	+	8	866	c.815C>T	c.(814-816)cCa>cTa	p.P272L	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.P294L|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.P294L	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	294	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.P294L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTGGTGGACCAGGATATGGA	0.438000													10	120					0	0	0.058154	0	0
MYBPH	4608	broad.mit.edu	37	1	203139485	203139485	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:203139485C>T	ENST00000255416.4	-	7	1084	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	343	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	p.E343K(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CACAGGTTTTCTGAGAAGACC	0.597000													3	48					0	0	0.115264	0	0
ZNF74	7625	broad.mit.edu	37	22	20749694	20749694	+	Missense_Mutation	SNP	G	G	A	rs139227842	by1000genomes	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:20749694G>A	ENST00000400451.2	+	2	620	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	ZNF74_ENST00000357502.5_Missense_Mutation_p.R41Q|ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000405993.1_Missense_Mutation_p.E36K|ZNF74_ENST00000356671.5_Missense_Mutation_p.E36K	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	36					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	p.E36K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGTCTTCCCGAAGCCAGGTC	0.532000													4	57					0	0	0.150653	0	0
ZZEF1	23140	broad.mit.edu	37	17	4015972	4015972	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:4015972C>G	ENST00000381638.2	-	5	1121	c.997G>C	c.(997-999)Gat>Cat	p.D333H	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	333	DOC.						calcium ion binding|zinc ion binding	p.D333H(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGTGCACATCTCGGACTTCC	0.542000													4	34					0	0	0.150653	0	0
VWA8	23078	broad.mit.edu	37	13	42385394	42385394	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:42385394A>C	ENST00000379310.3	-	17	2098	c.2030T>G	c.(2029-2031)cTt>cGt	p.L677R	VWA8_ENST00000281496.6_Missense_Mutation_p.L677R	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.L677R(1)									AGCACTGTGAAGATTTTCATT	0.383000													6	53					0	0	0.029380	0	0
LOC150776	150776	broad.mit.edu	37	2	132276730	132276730	+	RNA	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:132276730C>T	ENST00000438378.2	+	0	2050					NR_026922.1																						CATGGCTGGGCTTTAGCTCCA	0.597000													8	50					0	0	0.038147	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671406	39671406	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:39671406G>A	ENST00000328656.4	+	4	526	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	KCNJ15_ENST00000398934.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398932.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398930.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398938.2_Missense_Mutation_p.V75M	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.V75M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TGCCACTTTTGTGATGACCTG	0.473000													7	88					0	0	0.038147	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29511315	29511315	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:29511315C>T	ENST00000283351.4	-	2	664	c.329G>A	c.(328-330)gGa>gAa	p.G110E	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G56E|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G110E	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	110					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.G110E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTCATAATCTCCTGCTGTAAT	0.408000													10	94					0	0	0.080935	0	0
KDM3B	51780	broad.mit.edu	37	5	137756428	137756428	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:137756428A>G	ENST00000314358.5	+	15	3949	c.3749A>G	c.(3748-3750)gAg>gGg	p.E1250G	KDM3B_ENST00000542866.1_Missense_Mutation_p.E282G|KDM3B_ENST00000394866.1_Missense_Mutation_p.E906G|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1250G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCAATAAAGAGTCTCATTCA	0.483000													10	66					0	0	0.080935	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144121	106144121	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:106144121G>A	ENST00000276173.4	-	4	343	c.314C>T	c.(313-315)tCc>tTc	p.S105F	CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S58F	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	105	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		p.S105F(1)		lung(1)|urinary_tract(1)	2						GAAGGAGCGGGATTTAGGCCA	0.522000													5	6					0	0	0.014758	0	0
LGR5	8549	broad.mit.edu	37	12	71977788	71977788	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:71977788G>A	ENST00000266674.5	+	18	2309	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	LGR5_ENST00000540815.2_Silent_p.V642V|LGR5_ENST00000536515.1_Silent_p.V594V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	666			V -> A (in dbSNP:rs17109924).			integral to plasma membrane	protein-hormone receptor activity	p.V666V(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGTTCTCTGTGAAATATTCTG	0.463000													13	142					0	0	0.105934	0	0
ATP2B2	491	broad.mit.edu	37	3	10370803	10370803	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:10370803C>T	ENST00000397077.1	-	22	3867	c.3292G>A	c.(3292-3294)Gtc>Atc	p.V1098I	ATP2B2_ENST00000383800.4_Missense_Mutation_p.V1098I|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V1143I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V1129I|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V1143I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1143					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.V1143I(1)|p.V1098I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCTTCACGACGCGGATCTGC	0.582000													4	57					0	0	0.150653	0	0
ADCK3	56997	broad.mit.edu	37	1	227174193	227174193	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:227174193G>T	ENST00000366779.1	+	20	4470	c.1699G>T	c.(1699-1701)Ggg>Tgg	p.G567W	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.G515W|ADCK3_ENST00000458507.2_Missense_Mutation_p.G288W|ADCK3_ENST00000433743.2_Missense_Mutation_p.G241W|ADCK3_ENST00000366777.3_Missense_Mutation_p.G567W			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	567					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.G567W(1)|p.G288W(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCTCATCCTGGGGGAGGCCTT	0.587000													8	56					0.000157383	0.000170243	0.038147	1	0
APOB	338	broad.mit.edu	37	2	21228278	21228278	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:21228278G>C	ENST00000233242.1	-	26	11589	c.11462C>G	c.(11461-11463)aCt>aGt	p.T3821S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3821					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	p.T3821S(1)		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)	CTGGGACACAGTTAACTGAGA	0.423000													4	167					0	0	0.014758	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33624410	33624410	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:33624410C>T	ENST00000504830.1	-	14	2404	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	690	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R690H(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACCGCAGCGATCCTCGGT	0.502000										HNSCC(64;0.19)			5	49					0	0	0.014758	0	0
SLC4A8	9498	broad.mit.edu	37	12	51890800	51890800	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:51890800C>G	ENST00000453097.2	+	22	3190	c.2973C>G	c.(2971-2973)gtC>gtG	p.V991V	SLC4A8_ENST00000358657.3_Silent_p.V1018V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	991					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.V991V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGGAAAGTCATGGATCTCT	0.398000													5	75					0	0	0.021553	0	0
KRBA2	124751	broad.mit.edu	37	17	8273001	8273001	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:8273001T>C	ENST00000396267.1	-	2	1515	c.684A>G	c.(682-684)ttA>ttG	p.L228L	RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Silent_p.L310L|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	310					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	p.L310L(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAAATATCTAACAAGACAC	0.418000													6	44					0	0	0.021553	0	0
CORO7	79585	broad.mit.edu	37	16	4466517	4466517	+	Translation_Start_Site	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:4466517C>T	ENST00000251166.4	-	1	148	c.3G>A	c.(1-3)atG>atA	p.M1I	CORO7_ENST00000423908.2_Start_Codon_SNP_p.M1I|CORO7_ENST00000537233.2_Start_Codon_SNP_p.M1I|CORO7-PAM16_ENST00000572467.1_Start_Codon_SNP_p.M1I|CORO7_ENST00000574025.1_Start_Codon_SNP_p.M1I	NM_024535.4	NP_078811.3			coronin 7									p.M1I(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGAAGCGGTTCATGGCGACGG	0.756000													4	23					0	0	0.150653	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457514	110457514	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:110457514C>T	ENST00000378402.5	+	38	5520	c.5416C>T	c.(5416-5418)Cca>Tca	p.P1806S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1806	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1808S(1)		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)			GACTCCTCTCCCAGTTGGACA	0.468000										HNSCC(38;0.096)			7	67					0	0	0.029380	0	0
PDYN	5173	broad.mit.edu	37	20	1961214	1961214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:1961214G>A	ENST00000217305.2	-	4	745	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R174C|PDYN_ENST00000540134.1_Missense_Mutation_p.R174C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	174					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R174C(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGACCTGC	0.582000													6	81					0	0	0.021553	0	0
SCP2	6342	broad.mit.edu	37	1	53504595	53504595	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:53504595G>A	ENST00000371514.3	+	14	1513	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	SCP2_ENST00000488965.1_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.E425K|SCP2_ENST00000435345.2_Missense_Mutation_p.E45K|SCP2_ENST00000430330.2_Missense_Mutation_p.E42K|SCP2_ENST00000528311.1_Missense_Mutation_p.E368K|SCP2_ENST00000408941.3_Intron|SCP2_ENST00000371509.4_Missense_Mutation_p.E405K	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	449	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	p.E449K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CCAGGAAGGGGAACAGTTTGT	0.423000													10	110					0	0	0.080935	0	0
ERCC6	2074	broad.mit.edu	37	10	50732248	50732248	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:50732248C>T	ENST00000355832.5	-	5	1306	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.G410S|PGBD3_ENST00000603152.1_Missense_Mutation_p.G410S|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.G410S|PGBD3_ENST00000374127.3_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	410					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.G410S(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGTTTCCCGCCCTTGGGCAGA	0.552000								Direct reversal of damage;Nucleotide excision repair (NER)					3	69					0	0	0.115264	0	0
SEC61A2	55176	broad.mit.edu	37	10	12204226	12204226	+	Silent	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:12204226G>T	ENST00000379033.3	+	10	1263	c.1116G>T	c.(1114-1116)ctG>ctT	p.L372L	SEC61A2_ENST00000304267.8_Silent_p.L394L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Silent_p.L394L|SEC61A2_ENST00000379020.4_Silent_p.L328L	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	394						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.L394L(2)		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)				CTAAACAGCTGAAAGAACAGC	0.458000													14	193					1.15088e-07	1.31125e-07	0.146539	1	0
IGLV11-55	28770	broad.mit.edu	37	22	22556409	22556409	+	RNA	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:22556409T>G	ENST00000390286.2	+	0	235																											CTACTCAGACTCAGACAAGCA	0.542000											OREG0026354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	73					0	0	0.029380	0	0
GATAD2B	57459	broad.mit.edu	37	1	153792155	153792155	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:153792155T>C	ENST00000368655.4	-	3	635	c.392A>G	c.(391-393)aAt>aGt	p.N131S		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	131						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N131S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAAGCCTCATTGTCAGACAA	0.398000													13	90					0	0	0.119110	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724195	7724195	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:7724195A>T	ENST00000303635.7	+	9	1795	c.1588A>T	c.(1588-1590)Aag>Tag	p.K530*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.K530*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K530*(1)		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)		CGTCCTCACCAAGGAGATCAA	0.637000			T	WWTR1	epitheliod hemangioendothelioma								5	59					0	0	0.021553	0	0
SMG1	23049	broad.mit.edu	37	16	18859259	18859259	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:18859259G>A	ENST00000446231.2	-	37	6132	c.5720C>T	c.(5719-5721)tCt>tTt	p.S1907F	SMG1_ENST00000389467.3_Missense_Mutation_p.S1907F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1907	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S1903F(1)|p.S1907F(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCTATCCTGAGATGCAGGAGG	0.398000													13	63					0	0	0.105934	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897650	61897650	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:61897650T>C	ENST00000427159.2	-	19	2866	c.2221A>G	c.(2221-2223)Aag>Gag	p.K741E		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	741					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	p.K741E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCAGCCACCTTCTTGATGGGA	0.562000													8	105					0	0	0.047766	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336352	104336352	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336352G>A	ENST00000299767.5	+	12	1604	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	474					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	p.K474K(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGATCAAGAAGATTGCTGATG	0.363000													4	54					0	0	0.150653	0	0
EGFL7	51162	broad.mit.edu	37	9	139563050	139563050	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:139563050C>G	ENST00000371699.1	+	4	1033	c.122C>G	c.(121-123)tCc>tGc	p.S41C	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Missense_Mutation_p.S41C|EGFL7_ENST00000406555.3_Missense_Mutation_p.S41C|EGFL7_ENST00000308874.7_Missense_Mutation_p.S41C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	41	EMI.				angiogenesis|vasculogenesis		calcium ion binding	p.S41C(1)		kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GACCCTGTCTCCGAGTCGTTC	0.677000													11	97					0	0	0.069234	0	0
THSD7B	80731	broad.mit.edu	37	2	138320875	138320875	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:138320875G>C	ENST00000409968.1	+	16	3401	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.E1078Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1047Q					thrombospondin, type I, domain containing 7B									p.E1078Q(1)|p.E1047Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATCAACAATGAGCTGAGGTC	0.453000													4	24					0	0	0.150653	0	0
C1orf146	388649	broad.mit.edu	37	1	92709803	92709803	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:92709803G>A	ENST00000370373.2	+	5	477	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	C1orf146_ENST00000370375.3_Missense_Mutation_p.E64K			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	64								p.E64K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGATACTAAGGAATGTCTTCT	0.299000													6	42					0	0	0.021553	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077616	32077616	+	RNA	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:32077616C>A	ENST00000354689.6	+	0	231				RP11-1166P10.6_ENST00000566806.1_RNA																							ACGCCAAGAACTCACTGTATC	0.502000													22	385					2.32416e-17	2.71477e-17	0.069288	1	0
RP11-375N15.2	0	broad.mit.edu	37	8	9413396	9413396	+	RNA	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:9413396G>C	ENST00000607598.1	-	0	634																											AGTCGGAAGTGAGGGCGGGCG	0.607000													6	27					0	0	0.021553	0	0
PEAK1	79834	broad.mit.edu	37	15	77472430	77472430	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:77472430C>T	ENST00000560626.2	-	4	2314	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E	PEAK1_ENST00000312493.4_Silent_p.E613E|PEAK1_ENST00000558305.1_Silent_p.E613E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	613					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E613E(2)									CATAAGTTGGCTCGTCATGAA	0.348000													11	142					0	0	0.105934	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600201	116600201	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:116600201G>C	ENST00000368608.3	-	1	865	c.793C>G	c.(793-795)Ctg>Gtg	p.L265V	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	265					nucleosome assembly	nucleolus		p.L265V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTCCGCTCCAGGTAGTGTCGA	0.562000													8	84					0	0	0.038147	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104478538	104478538	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:104478538G>C	ENST00000372582.1	+	4	1149	c.393G>C	c.(391-393)ttG>ttC	p.L131F	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L131F	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	131	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.L131F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAATGTCCTTGACTGTTGCAG	0.393000													9	71					0	0	0.058154	0	0
BTN3A3	10384	broad.mit.edu	37	6	26451934	26451934	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:26451934C>T	ENST00000244519.2	+	11	1293	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	BTN3A3_ENST00000361232.3_Silent_p.N301N|BTN3A3_ENST00000339789.4_Silent_p.N308N	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	350	B30.2/SPRY.					integral to membrane		p.N350N(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ACACGGCAAACGCCATCCTCC	0.542000													4	55					0	0	0.014758	0	0
ASH1L	55870	broad.mit.edu	37	1	155449667	155449667	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:155449667C>G	ENST00000368346.3	-	3	3633	c.2994G>C	c.(2992-2994)ttG>ttC	p.L998F	ASH1L_ENST00000392403.3_Missense_Mutation_p.L998F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	998					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.L998F(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAATCTGATTCAACAGTTTCT	0.313000													5	75					0	0	0.014758	0	0
HSPBP1	23640	broad.mit.edu	37	19	55776711	55776711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:55776711C>A	ENST00000255631.5	-	8	1250	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E314*|HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E212*|HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E314*	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	317					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	p.E314*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGCCCAGTTCCGGCTCCCGA	0.647000													7	93					0.000157383	0.000170243	0.038147	1	0
LTBP2	4053	broad.mit.edu	37	14	74973930	74973930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:74973930G>C	ENST00000261978.4	-	26	4245	c.3859C>G	c.(3859-3861)Ctg>Gtg	p.L1287V	LTBP2_ENST00000556690.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1287	Cys-rich.|EGF-like 14; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.L1287V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGCAGCCCAGAACACAGCGG	0.567000													6	57					0	0	0.038147	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967904	49967904	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:49967904C>T	ENST00000293350.4	+	12	1616	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.L320L|ALDH16A1_ENST00000540132.1_Silent_p.L322L|ALDH16A1_ENST00000455361.2_Silent_p.L434L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	485							oxidoreductase activity|protein binding	p.L485L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTATGAGTATCTGCGGCCCTC	0.662000													9	137					0	0	0.047766	0	0
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:36571798G>A	ENST00000431169.1	-	18	1680	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Silent_p.H428H|AOAH_ENST00000258749.5_Silent_p.H460H|AOAH_ENST00000538464.1_Silent_p.H182H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512000													7	61					0	0	0.038147	0	0
ERCC2	2068	broad.mit.edu	37	19	45855835	45855835	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:45855835G>A	ENST00000391945.4	-	21	2052	c.1975C>T	c.(1975-1977)Cac>Tac	p.H659Y	ERCC2_ENST00000391944.3_Missense_Mutation_p.H581Y	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	659					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.H659Y(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGGCCGCGTGGCGCATGGCA	0.612000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				19	57					0	0	0.175082	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718479	50718479	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:50718479C>A	ENST00000449103.1	-	26	4337	c.4197G>T	c.(4195-4197)agG>agT	p.R1399S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1399S			O15031	PLXB2_HUMAN	plexin B2	1399					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.R1442S(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGACAGCATCCTCTCCACCA	0.612000													5	38					1.23904e-05	1.37232e-05	0.014758	1	0
ASIC1	41	broad.mit.edu	37	12	50453726	50453726	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:50453726G>A	ENST00000228468.4	+	3	932	c.547G>A	c.(547-549)Gac>Aac	p.D183N	ASIC1_ENST00000447966.2_Missense_Mutation_p.D183N	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	183					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.D183N(1)								Amiloride(DB00594)	CAGCGCTGAAGACTTCAAGGT	0.617000													5	39					0	0	0.014758	0	0
AMN1	196394	broad.mit.edu	37	12	31850769	31850769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:31850769C>T	ENST00000281471.6	-	4	604	c.439G>A	c.(439-441)Gat>Aat	p.D147N	AMN1_ENST00000537562.1_Missense_Mutation_p.D129N|AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.D129N|AMN1_ENST00000542781.1_5'UTR	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	147								p.D147N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCACCTAAATCGATGATCTTT	0.418000													4	75					0	0	0.150653	0	0
THAP11	57215	broad.mit.edu	37	16	67876802	67876802	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:67876802G>A	ENST00000303596.1	+	1	590	c.345G>A	c.(343-345)caG>caA	p.Q115Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	115	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	p.Q115Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcaacagcagcaacagcagc	0.682000													3	64					0	0	0.115264	0	0
BDKRB1	623	broad.mit.edu	37	14	96730151	96730151	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:96730151C>G	ENST00000216629.6	+	3	738	c.132C>G	c.(130-132)atC>atG	p.I44M	RP11-404P21.8_ENST00000553811.1_3'UTR|RP11-404P21.3_ENST00000553638.1_RNA|RP11-404P21.8_ENST00000555847.1_3'UTR|BDKRB1_ENST00000553356.1_Missense_Mutation_p.I44M	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	44					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	p.I44M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAACATTTATCATCTCCATCT	0.542000													4	51					0	0	0.150653	0	0
TPR	7175	broad.mit.edu	37	1	186329966	186329966	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:186329966C>G	ENST00000367478.4	-	10	1326	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.E345Q(1)|p.E344Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTATTTTCTCAAGCATTTCT	0.348000			T	NTRK1	papillary thyroid								3	51					0	0	0.115264	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692212	69692212	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:69692212C>T	ENST00000265403.7	+	4	1111	c.1084C>T	c.(1084-1086)Cta>Tta	p.L362L	UGT2B10_ENST00000458688.2_Silent_p.L278L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	362					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L362L(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAATGACCTTCTAGGTAACAC	0.378000													5	63					0	0	0.021553	0	0
MAP7D1	55700	broad.mit.edu	37	1	36636690	36636690	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:36636690G>T	ENST00000316156.4	+	2	618	c.165G>T	c.(163-165)atG>atT	p.M55I	MAP7D1_ENST00000373151.2_Missense_Mutation_p.M55I|MAP7D1_ENST00000373150.4_Missense_Mutation_p.M55I			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	55	Pro-rich.					cytoplasm|spindle		p.M55I(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CTCCTGCCATGAAGAATGCCA	0.652000													9	88					2.74318e-10	3.17752e-10	0.058154	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156715077	156715077	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:156715077G>C	ENST00000264424.8	+	6	647	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E189Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E211Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E169Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	189					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.E189Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GTCAAAAGAAGAGGATTTTTA	0.333000													5	53					0	0	0.014758	0	0
XRCC1	7515	broad.mit.edu	37	19	44079154	44079154	+	Splice_Site	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:44079154T>C	ENST00000262887.5	-	2	599	c.52A>G	c.(52-54)Act>Gct	p.T18A	L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000543982.1_Intron|L34079.4_ENST00000600242.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	18					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	p.T18A(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCACAGTGAGTCTGGAAACAA	0.527000								Other BER factors					6	26					0	0	0.021553	0	0
GRIA1	2890	broad.mit.edu	37	5	153174194	153174194	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:153174194C>A	ENST00000285900.5	+	14	2627	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	GRIA1_ENST00000518142.1_Missense_Mutation_p.L682M|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.L693M|GRIA1_ENST00000518783.1_Missense_Mutation_p.L772M|GRIA1_ENST00000340592.5_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	762					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.L762M(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCCAGTAAACCTGGCAGTGTT	0.468000													3	41					0.00024832	0.000266537	0.150653	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43625185	43625185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:43625185G>A	ENST00000332857.6	-	4	3530	c.3502C>T	c.(3502-3504)Cag>Tag	p.Q1168*		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.Q1168*(1)									AAAATCCACTGAAAAAATTGC	0.428000													9	186					0	0	0.093190	0	0
TENM1	10178	broad.mit.edu	37	X	123805551	123805551	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:123805551C>T	ENST00000422452.2	-	6	1213	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	TENM1_ENST00000371130.3_Missense_Mutation_p.D384N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D386N(1)									TCTGATTTATCAGAAACTTTT	0.398000													9	55					0	0	0.047766	0	0
PRPF31	26121	broad.mit.edu	37	19	54632680	54632680	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:54632680G>C	ENST00000321030.4	+	13	1658	c.1309G>C	c.(1309-1311)Ggg>Cgg	p.G437R	PRPF31_ENST00000419967.1_Missense_Mutation_p.R414P|PRPF31_ENST00000391755.1_Missense_Mutation_p.G431R	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	437					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	p.G437>?(1)|p.G437R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTATATGGCGGGAAGTCCAC	0.701000											OREG0003636	type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	11					0	0	0.115264	0	0
GPR116	221395	broad.mit.edu	37	6	46849233	46849233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:46849233G>A	ENST00000283296.7	-	8	1061	c.773C>T	c.(772-774)aCc>aTc	p.T258I	GPR116_ENST00000456426.2_Missense_Mutation_p.T258I|GPR116_ENST00000362015.4_Missense_Mutation_p.T258I|GPR116_ENST00000265417.7_Missense_Mutation_p.T258I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	258	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T258I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATTTTGTAGGTCTGATTGAG	0.368000													5	66					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179404175	179404175	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:179404175C>T	ENST00000589042.1	-	352	98841	c.98617G>A	c.(98617-98619)Gaa>Aaa	p.E32873K	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23808K|TTN_ENST00000342992.6_Missense_Mutation_p.E30305K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24000K|TTN_ENST00000591111.1_Missense_Mutation_p.E31232K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23933K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31232							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E30303K(1)|p.E30305K(1)|p.E24000K(1)|p.E23808K(1)|p.E23933K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGGTTTTCTGCTGAAACA	0.418000													7	77					0	0	0.029380	0	0
STH	246744	broad.mit.edu	37	17	44076786	44076786	+	Silent	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:44076786C>A	ENST00000537309.1	+	1	171	c.141C>A	c.(139-141)acC>acA	p.T47T	MAPT_ENST00000262410.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	47						cytoplasm|nucleus		p.T47T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGACAGAACCCTCAGCTTAG	0.537000													5	42					0.000602214	0.000638991	0.014758	1	0
INTS1	26173	broad.mit.edu	37	7	1513805	1513805	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:1513805A>G	ENST00000389470.4	-	42	6439	c.6440T>C	c.(6439-6441)cTg>cCg	p.L2147P	INTS1_ENST00000404767.3_Splice_Site_p.L1943P			Q8N201	INT1_HUMAN	integrator complex subunit 1	1943					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.L2147P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGCACACACCAGCAGCAGGCG	0.706000											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0.150653	0	0
GRM4	2914	broad.mit.edu	37	6	34003916	34003916	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:34003916G>C	ENST00000538487.2	-	9	2414	c.1971C>G	c.(1969-1971)atC>atG	p.I657M	GRM4_ENST00000455714.2_Missense_Mutation_p.I517M|GRM4_ENST00000609222.1_Missense_Mutation_p.I524M|GRM4_ENST00000544773.2_Missense_Mutation_p.I488M|GRM4_ENST00000535756.1_Missense_Mutation_p.I524M|GRM4_ENST00000374177.3_Missense_Mutation_p.I541M|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.I657M	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.I657M(2)|p.I541M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTCCCAGGAAGATTCGGCGCA	0.602000													5	43					0	0	0.014758	0	0
PTENP1	11191	broad.mit.edu	37	9	33676580	33676580	+	RNA	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:33676580C>A	ENST00000532280.1	-	0	917					NR_023917.1																						TAGGTCAAGTCTAAGTCGAAT	0.393000													18	75					1.67942e-08	1.92925e-08	0.175082	1	0
TRIM36	55521	broad.mit.edu	37	5	114499268	114499268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:114499268C>T	ENST00000513154.1	-	2	535	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	TRIM36_ENST00000282369.3_Missense_Mutation_p.R82Q|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.R82Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAGCCGAAGTCGAGGACTGCT	0.448000													5	63					0	0	0.014758	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336567	104336567	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336567G>C	ENST00000299767.5	+	12	1819	c.1637G>C	c.(1636-1638)aGa>aCa	p.R546T		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	546					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	p.R546T(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GGGTCCAGCAGAAAAGAGGTG	0.418000													6	71					0	0	0.021553	0	0
TEAD3	7005	broad.mit.edu	37	6	35454253	35454253	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:35454253C>G	ENST00000338863.7	-	2	414	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	TEAD3_ENST00000402886.3_Silent_p.T45T	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	63					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E63Q(1)|p.E79Q(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATCTTGCCCTCGTCTGACAGG	0.697000													5	40					0	0	0.014758	0	0
CIC	23152	broad.mit.edu	37	19	42793047	42793047	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:42793047T>C	ENST00000572681.2	+	8	3734	c.3666T>C	c.(3664-3666)tcT>tcC	p.S1222S	CIC_ENST00000575354.2_Silent_p.S313S|CIC_ENST00000160740.3_Silent_p.S313S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S313S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGTGTCCTCTGAGCTCCTGT	0.562000			"""Mis, F, S"""		oligodendroglioma								5	42					0	0	0.146539	0	0
MMP16	4325	broad.mit.edu	37	8	89198769	89198769	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:89198769G>A	ENST00000286614.6	-	3	621	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	114					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.H114Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CGACGAATATGAAATTTGGAG	0.413000													9	154					0	0	0.058154	0	0
NR2F2	7026	broad.mit.edu	37	15	96880592	96880592	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:96880592C>T	ENST00000394166.3	+	3	2375	c.986C>T	c.(985-987)tCt>tTt	p.S329F	NR2F2_ENST00000453270.2_Missense_Mutation_p.S176F|NR2F2_ENST00000394171.2_Missense_Mutation_p.S176F|NR2F2_ENST00000421109.2_Missense_Mutation_p.S196F	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	329	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.S329F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGTGGTCTCTCTGATGTAGCC	0.423000													6	66					0	0	0.021553	0	0
NID2	22795	broad.mit.edu	37	14	52481073	52481073	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:52481073T>C	ENST00000216286.5	-	16	3351	c.3352A>G	c.(3352-3354)Att>Gtt	p.I1118V	NID2_ENST00000541773.1_Missense_Mutation_p.I1017V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1118						basement membrane	calcium ion binding|collagen binding	p.I1118V(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTAGCCAATCTGCTGGCCC	0.592000											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	0.058154	0	0
RNF41	10193	broad.mit.edu	37	12	56600547	56600547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:56600547C>T	ENST00000345093.4	-	7	1007	c.638G>A	c.(637-639)cGc>cAc	p.R213H	RNF41_ENST00000394013.2_Missense_Mutation_p.R142H|RNF41_ENST00000552656.1_Missense_Mutation_p.R213H	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	213					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	p.R213H(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CCCTCCCCAGCGGGTCACTCT	0.537000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0	0	0.115264	0	0
KTI12	112970	broad.mit.edu	37	1	52499087	52499087	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:52499087C>T	ENST00000371614.1	-	1	401	c.347G>A	c.(346-348)gGa>gAa	p.G116E	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	116							ATP binding	p.G116E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACCTGAGGTCCCGCGATCGG	0.701000													5	65					0	0	0.021553	0	0
SLC22A15	55356	broad.mit.edu	37	1	116569600	116569600	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:116569600A>G	ENST00000369503.4	+	5	815	c.685A>G	c.(685-687)Att>Gtt	p.I229V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.I229V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	229					ion transport	integral to membrane	transmembrane transporter activity	p.I229V(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GACCCTAGCCATTCTGGTTAA	0.433000													8	105					0	0	0.038147	0	0
DST	667	broad.mit.edu	37	6	56401661	56401661	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:56401661C>T	ENST00000370754.5	-	62	16592	c.16593G>A	c.(16591-16593)caG>caA	p.Q5531Q	DST_ENST00000370788.2_Silent_p.Q3265Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.Q5353Q|DST_ENST00000446842.2_Silent_p.Q5027Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Silent_p.Q5351Q|DST_ENST00000244364.6_Silent_p.Q2939Q|DST_ENST00000421834.2_Silent_p.Q3265Q			Q03001	DYST_HUMAN	dystonin	5351					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q5353Q(1)|p.Q2939Q(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGCAGCACTCTGAATAAGGC	0.433000													5	62					0	0	0.014758	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732221	37732221	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:37732221C>G	ENST00000330843.4	-	3	1446	c.1434G>C	c.(1432-1434)ggG>ggC	p.G478G	RAB11FIP1_ENST00000524118.1_Silent_p.G330G|RAB11FIP1_ENST00000522727.1_Silent_p.G330G|RAB11FIP1_ENST00000287263.4_Silent_p.G478G	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	478					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.G478G(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTCAGCAGGCCCCGATGCGT	0.557000													3	134					0	0	0.150653	0	0
CORO2B	10391	broad.mit.edu	37	15	68937671	68937671	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:68937671G>T	ENST00000543950.1	+	2	527	c.173G>T	c.(172-174)gGc>gTc	p.G58V	CORO2B_ENST00000540068.1_Missense_Mutation_p.G58V|CORO2B_ENST00000261861.5_Missense_Mutation_p.G58V|CORO2B_ENST00000566799.1_Missense_Mutation_p.G63V	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	63					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.G63V(1)|p.G63>?(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCAGGGGGCGGCTCCTTCCTC	0.622000													4	68					0.150653	0.154545	0.150653	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408255	105408255	+	Silent	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:105408255G>T	ENST00000333244.5	-	7	13652	c.13533C>A	c.(13531-13533)ctC>ctA	p.L4511L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4511						nucleus		p.L4511L(1)		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)			CCTGAATGCGGAGGTCAGTGG	0.622000													27	154					1.33986e-20	1.57165e-20	0.099896	1	0
ABCA8	10351	broad.mit.edu	37	17	66937049	66937049	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:66937049G>A	ENST00000269080.2	-	3	288	c.151C>T	c.(151-153)Cat>Tat	p.H51Y	ABCA8_ENST00000586539.1_Missense_Mutation_p.H51Y|ABCA8_ENST00000430352.2_Missense_Mutation_p.H51Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	51						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H51Y(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTACTTGATGACTATGAGGA	0.323000													3	30					0	0	0.115264	0	0
RARG	5916	broad.mit.edu	37	12	53607445	53607445	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:53607445T>C	ENST00000425354.2	-	8	1340	c.853A>G	c.(853-855)Acc>Gcc	p.T285A	RARG_ENST00000338561.5_Missense_Mutation_p.T274A|RARG_ENST00000394426.1_Missense_Mutation_p.T285A|RARG_ENST00000327550.3_Missense_Mutation_p.T213A|RARG_ENST00000543726.1_Missense_Mutation_p.T263A|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	285	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.T285A(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCATGGTGTCCTGCTCT	0.597000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	57					0	0	0.115264	0	0
CIC	23152	broad.mit.edu	37	19	42793049	42793049	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:42793049A>T	ENST00000572681.2	+	8	3736	c.3668A>T	c.(3667-3669)gAg>gTg	p.E1223V	CIC_ENST00000575354.2_Missense_Mutation_p.E314V|CIC_ENST00000160740.3_Missense_Mutation_p.E314V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	314	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E314V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGTCCTCTGAGCTCCTGTCC	0.557000			"""Mis, F, S"""		oligodendroglioma								4	44					0	0	0.132662	0	0
CORO2B	10391	broad.mit.edu	37	15	68937670	68937670	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:68937670G>A	ENST00000543950.1	+	2	526	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	CORO2B_ENST00000540068.1_Missense_Mutation_p.G58S|CORO2B_ENST00000261861.5_Missense_Mutation_p.G58S|CORO2B_ENST00000566799.1_Missense_Mutation_p.G63S	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	63					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.G63>?(1)|p.G63S(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGCAGGGGGCGGCTCCTTCCT	0.622000													4	68					0	0	0.150653	0	0
RIT2	6014	broad.mit.edu	37	18	40323522	40323522	+	Missense_Mutation	SNP	C	C	G	rs77976328		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:40323522C>G	ENST00000326695.5	-	5	761	c.590G>C	c.(589-591)aGa>aCa	p.R197T	RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	197					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.R197T(1)|p.K198fs*>19(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTCTTTTCTCTTCAGTTT	0.413000													23	152					0	0	0.091800	0	0
CCDC36	339834	broad.mit.edu	37	3	49294677	49294677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:49294677G>A	ENST00000438782.1	+	8	1983	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	CCDC36_ENST00000296449.5_Missense_Mutation_p.D583N|CCDC36_ENST00000452691.2_Missense_Mutation_p.D583N			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	583								p.D573N(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTGCTCTATGACCTGGGTTT	0.488000													13	118					0	0	0.093190	0	0
ZNF385A	25946	broad.mit.edu	37	12	54765456	54765456	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:54765456C>T	ENST00000546970.1	-	6	694	c.405G>A	c.(403-405)gaG>gaA	p.E135E	ZNF385A_ENST00000551109.1_Silent_p.E135E|ZNF385A_ENST00000551771.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000394313.2_Silent_p.E135E|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000338010.5_Silent_p.E155E|ZNF385A_ENST00000352268.6_Intron			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.E135E(2)|p.E135D(2)|p.E155E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGGCTGTTTCTCTGGGGATC	0.602000													13	63					0	0	0.119110	0	0
EIF3I	8668	broad.mit.edu	37	1	32690056	32690056	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:32690056G>C	ENST00000373586.1	+	4	302	c.230G>C	c.(229-231)cGt>cCt	p.R77P	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	77						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.R77P(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AACAGCTGTCGTCTCTGGGAC	0.473000													4	50					0	0	0.014758	0	0
C5orf58	133874	broad.mit.edu	37	5	169661182	169661182	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:169661182G>A	ENST00000521850.1	+	1	1732	c.43G>A	c.(43-45)Gag>Aag	p.E15K	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.E15K			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	15								p.E15K(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6						GGAAAAGGTAGAGGCAAGGAT	0.393000													3	28					0	0	0.115264	0	0
ZEB2	9839	broad.mit.edu	37	2	145147516	145147516	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:145147516G>A	ENST00000558170.2	-	10	4331	c.3147C>T	c.(3145-3147)caC>caT	p.H1049H	ZEB2_ENST00000303660.4_Silent_p.H1049H|ZEB2_ENST00000539609.3_Silent_p.H1025H|ZEB2_ENST00000409487.3_Silent_p.H1049H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1049						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.H1049H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCGCCCGAGTGAAGCCTTG	0.478000													8	49					0	0	0.038147	0	0
BRPF3	27154	broad.mit.edu	37	6	36168658	36168658	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:36168658C>T	ENST00000357641.6	+	2	812	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	BRPF3_ENST00000534400.1_Silent_p.L187L|BRPF3_ENST00000443324.2_Silent_p.L187L|BRPF3_ENST00000543502.1_Silent_p.L187L|BRPF3_ENST00000534694.1_Silent_p.L187L|BRPF3_ENST00000339717.7_Silent_p.L187L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	187					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.L187L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTTTGAGCTGCTGGTAGACCG	0.527000													4	55					0	0	0.014758	0	0
FAM83F	113828	broad.mit.edu	37	22	40415261	40415261	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:40415261C>T	ENST00000333407.6	+	2	673	c.579C>T	c.(577-579)taC>taT	p.Y193Y	FAM83F_ENST00000473717.1_Silent_p.Y25Y	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F									p.Y193Y(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCCCAGTGTACATCATCCTGG	0.542000													12	50					0	0	0.132662	0	0
ARCN1	372	broad.mit.edu	37	11	118452000	118452000	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:118452000G>A	ENST00000359415.4	+	3	331	c.166G>A	c.(166-168)Gct>Act	p.A56T	ARCN1_ENST00000264028.4_Missense_Mutation_p.A15T|ARCN1_ENST00000534182.2_Missense_Mutation_p.A15T|ARCN1_ENST00000392859.3_Intron			P48444	COPD_HUMAN	archain 1	15					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		p.A15T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCAGGAAAGGCTATTGTTTC	0.428000													12	109					0	0	0.119110	0	0
CACNG6	59285	broad.mit.edu	37	19	54502980	54502980	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:54502980G>A	ENST00000252729.2	+	3	1089	c.499G>A	c.(499-501)Gca>Aca	p.A167T	CACNG6_ENST00000346968.2_Intron|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	167						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A167T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CAGTAAAGGTGCAGAGTTCCT	0.592000													6	178					0	0	0.021553	0	0
EDA	1896	broad.mit.edu	37	X	68836299	68836299	+	Silent	SNP	C	C	T	rs41539891		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:68836299C>T	ENST00000374552.4	+	1	389	c.147C>T	c.(145-147)ctC>ctT	p.L49L	EDA_ENST00000338901.3_Silent_p.L49L|EDA_ENST00000524573.1_Silent_p.L49L|EDA_ENST00000525810.1_Silent_p.L49L|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000527388.1_Silent_p.L49L|EDA_ENST00000374553.2_Silent_p.L49L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	49					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	p.L49L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TCTTTGGCCTCTCGCTGGCCC	0.711000													5	25					0	0	0.021553	0	0
ZNF346	23567	broad.mit.edu	37	5	176468221	176468221	+	Silent	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:176468221A>T	ENST00000503039.1	+	3	349	c.345A>T	c.(343-345)gcA>gcT	p.A115A	ZNF346_ENST00000358149.3_Silent_p.A90A|ZNF346_ENST00000511834.1_Silent_p.A90A|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Silent_p.A90A|ZNF346_ENST00000261948.4_Silent_p.A115A|ZNF346_ENST00000506693.1_Intron			Q9UL40	ZN346_HUMAN	zinc finger protein 346	90						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	p.A90A(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			AGAAGCTGGCACATTACCAGG	0.458000													12	110					0	0	0.080935	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459659	122459659	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:122459659C>T	ENST00000306103.2	-	8	1143	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	334						cytoplasm		p.D334Y(1)|p.D334N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CTGCAGCGATCAAAAAATGCA	0.403000													11	131					0	0	0.093190	0	0
TPR	7175	broad.mit.edu	37	1	186330823	186330823	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:186330823C>G	ENST00000367478.4	-	9	1185	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.E298Q(1)|p.E297Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTTTGCTTCTGAGTCATCA	0.373000			T	NTRK1	papillary thyroid								7	78					0	0	0.038147	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24243107	24243107	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:24243107T>C	ENST00000382263.3	+	9	1300	c.1116T>C	c.(1114-1116)gcT>gcC	p.A372A	TNFRSF19_ENST00000403372.2_Silent_p.A240A|TNFRSF19_ENST00000382258.4_Silent_p.A372A|TNFRSF19_ENST00000248484.4_Silent_p.A372A	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	372					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	p.A372A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TTACAGCAGCTACTGATTTAT	0.428000													3	86					0	0	0.115264	0	0
MICAL2	9645	broad.mit.edu	37	11	12265655	12265655	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:12265655G>A	ENST00000256194.4	+	21	3068	c.2780G>A	c.(2779-2781)aGa>aAa	p.R927K	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.R927K|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	927						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R927K(1)		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)		TCTCCTGCCAGAAAGGTAGTT	0.502000													14	187					0	0	0.160694	0	0
AMER2	219287	broad.mit.edu	37	13	25744014	25744014	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:25744014A>T	ENST00000357816.2	-	3	1862	c.1387T>A	c.(1387-1389)Tcc>Acc	p.S463T	AMER2_ENST00000381853.3_Missense_Mutation_p.S463T|AMER2_ENST00000515384.1_Missense_Mutation_p.S582T					APC membrane recruitment protein 2									p.S463T(1)|p.S582T(1)									TTTAACCGGGACAGGGAGGAC	0.567000													3	70					0	0	0.021553	0	0
EXTL1	2134	broad.mit.edu	37	1	26349162	26349162	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:26349162T>G	ENST00000374280.3	+	1	892	c.25T>G	c.(25-27)Tcc>Gcc	p.S9A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	9					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.S9A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAGAAAGTCCCTGTGGCT	0.667000													4	63					0	0	0.150653	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439097	75439097	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:75439097G>A	ENST00000526712.1	+	3	1085	c.312G>A	c.(310-312)ggG>ggA	p.G104G	MOGAT2_ENST00000198801.5_Silent_p.G186G			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	186					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.G186G(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCATTGTAGGGGGTGCCCAGG	0.562000													3	38					0	0	0.115264	0	0
CELSR1	9620	broad.mit.edu	37	22	46759909	46759909	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:46759909C>T	ENST00000262738.3	-	34	9018	c.9019G>A	c.(9019-9021)Gat>Aat	p.D3007N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	3007					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.D3007N(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGGAGCCATCGGCCTGGGCG	0.672000													7	14					0	0	0.047766	0	0
SSBP3	23648	broad.mit.edu	37	1	54707879	54707879	+	Silent	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:54707879C>A	ENST00000371320.3	-	11	1133	c.723G>T	c.(721-723)ccG>ccT	p.P241P	SSBP3_ENST00000371319.3_Silent_p.P214P|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Silent_p.P131P|SSBP3_ENST00000357475.4_Silent_p.P221P	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	241	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	p.P241P(1)|p.P214P(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGCCAGCTCCCGGGCCCCTGA	0.587000													8	166					0.0381472	0.0397188	0.038147	1	0
FAM208B	54906	broad.mit.edu	37	10	5762896	5762896	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:5762896C>G	ENST00000328090.5	+	6	734	c.109C>G	c.(109-111)Ctt>Gtt	p.L37V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	37								p.L37V(1)									TGATATAGCTCTTTGGTCCAC	0.333000													11	71					0	0	0.069234	0	0
GET4	51608	broad.mit.edu	37	7	926266	926266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:926266G>A	ENST00000407192.1	+	2	2653	c.136G>A	c.(136-138)Gag>Aag	p.E46K	GET4_ENST00000265857.3_Missense_Mutation_p.E99K			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	99					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	p.E99K(1)		breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCGGAAGTGGAGGTGGCTGA	0.597000													15	67					0	0	0.146539	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2628	2628	+	RNA	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrM:2628T>C	ENST00000387347.2	+	0	958					NR_039705.1																						aatagggacctgtatgaatgg	0.507000													2	1					0	0	0.115264	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472350	47472350	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:47472350G>T	ENST00000266581.4	-	2	902	c.436C>A	c.(436-438)Ctt>Att	p.L146I	AMIGO2_ENST00000321382.3_Missense_Mutation_p.L146I|AMIGO2_ENST00000550413.1_Missense_Mutation_p.L146I|AMIGO2_ENST00000429635.1_Missense_Mutation_p.L146I	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	146					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.L146I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TAAAGCAGAAGCACTTCCAGA	0.408000													8	107					5.18039e-06	5.7606e-06	0.038147	1	0
TMC3	342125	broad.mit.edu	37	15	81625521	81625521	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:81625521C>T	ENST00000558726.1	-	22	2680	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	TMC3_ENST00000359440.5_Missense_Mutation_p.E848K|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	848						integral to membrane		p.E852K(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGTACATCTTCGATGTGCGTT	0.527000													9	93					0	0	0.047766	0	0
RUSC2	9853	broad.mit.edu	37	9	35547473	35547473	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:35547473G>A	ENST00000455600.1	+	2	1524	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	319						cytosol		p.A319T(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCCTGGCGCCTTCTATCT	0.567000													7	61					0	0	0.038147	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475832	140475832	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:140475832C>G	ENST00000194155.4	+	1	1606	c.1458C>G	c.(1456-1458)gcC>gcG	p.A486A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		486	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A486A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCACCT	0.662000													6	111					0	0	0.093190	0	0
IGSF9B	22997	broad.mit.edu	37	11	133794727	133794727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:133794727C>T	ENST00000321016.8	-	15	2337	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V703I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	703	Fibronectin type-III 2.					integral to membrane|plasma membrane		p.V159I(1)|p.V703I(1)		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)		GTGCTGGAGACGCCGGCGATG	0.562000													4	94					0	0	0.014758	0	0
ANXA13	312	broad.mit.edu	37	8	124748098	124748098	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:124748098G>A	ENST00000262219.6	-	2	102	c.35C>T	c.(34-36)tCa>tTa	p.S12L	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.L11fs*51(1)|p.S12L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTGCCTTCTGAGAGGGTGTA	0.517000													4	58					0	0	0.014758	0	0
LAX1	54900	broad.mit.edu	37	1	203743363	203743363	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:203743363G>A	ENST00000442561.2	+	5	1141	c.751G>A	c.(751-753)Gac>Aac	p.D251N	LAX1_ENST00000367217.5_Missense_Mutation_p.D235N|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	251					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.D251N(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGCTGAGGACAGTGATTC	0.488000													5	40					0	0	0.021553	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832940	34832940	+	Missense_Mutation	SNP	C	C	T	rs144261536		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:34832940C>T	ENST00000299505.6	+	10	2974	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	701								p.R701W(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCTCCACCACGGGCACCCCA	0.612000													8	94					0	0	0.047766	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|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	p.Q269Q(15)		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						gctgctgctgctgttgttgtt	0.537000													3	18					0	0	0.115264	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95454653	95454653	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:95454653G>A	ENST00000359204.4	-	5	458	c.261C>T	c.(259-261)taC>taT	p.Y87Y	FRA10AC1_ENST00000536233.1_Silent_p.Y87Y|FRA10AC1_ENST00000394100.2_Silent_p.Y87Y|FRA10AC1_ENST00000371430.2_Silent_p.Y87Y	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	87						nucleus	protein binding	p.Y87Y(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TGCCACCATAGTATAAAATAT	0.338000													16	194					0	0	0.146539	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772930	5772930	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:5772930C>A	ENST00000381624.3	+	20	1956	c.1895C>A	c.(1894-1896)aCc>aAc	p.T632N	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	632						integral to membrane		p.T632N(1)									CAGAACTGGACCACCATGATA	0.567000													3	40					0.00024832	0.000266537	0.150653	1	0
RASGRF2	5924	broad.mit.edu	37	5	80390805	80390805	+	Silent	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:80390805C>A	ENST00000265080.4	+	12	1816	c.1749C>A	c.(1747-1749)atC>atA	p.I583I		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	583	PH 2.				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	p.I583I(1)		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)		TGAGTGACATCAGTCAGGTAA	0.393000													6	37					2.0095e-06	2.25258e-06	0.029380	1	0
PDCD11	22984	broad.mit.edu	37	10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	rs142899352		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:105182763C>T	ENST00000369797.3	+	18	2610	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.T839M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGATCCAGACGCTGGCCGAG	0.527000													3	49					0	0	0.150653	0	0
ELP5	23587	broad.mit.edu	37	17	7162203	7162203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:7162203C>T	ENST00000396628.2	+	7	1011	c.794C>T	c.(793-795)gCc>gTc	p.A265V	ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000356683.2_3'UTR|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Missense_Mutation_p.A265V|ELP5_ENST00000354429.2_Missense_Mutation_p.A265V	NM_203414.1	NP_981959.1			elongator acetyltransferase complex subunit 5									p.A265V(1)									GAGAGAGAAGCCAGAGATAGC	0.517000													10	55					0	0	0.069234	0	0
SLC12A2	6558	broad.mit.edu	37	5	127484463	127484463	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:127484463C>T	ENST00000262461.2	+	12	2088	c.1899C>T	c.(1897-1899)aaC>aaT	p.N633N	SLC12A2_ENST00000343225.4_Silent_p.N633N	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	633					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.N633N(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTAAGGACAACATCTACCCAG	0.328000													10	112					0	0	0.058154	0	0
IQCC	55721	broad.mit.edu	37	1	32673403	32673403	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:32673403T>A	ENST00000537469.1	+	5	1408	c.1361T>A	c.(1360-1362)tTg>tAg	p.L454*	IQCC_ENST00000291358.6_Nonsense_Mutation_p.L374*	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	374								p.L374*(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACACAAGAGTTGGGCCTCTCA	0.532000													13	120					0	0	0.105934	0	0
GPLD1	2822	broad.mit.edu	37	6	24472819	24472819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:24472819G>A	ENST00000230036.1	-	7	646	c.536C>T	c.(535-537)gCa>gTa	p.A179V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	179						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.A179V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCAGCGTCGTGCAAGGTAATT	0.338000													9	78					0	0	0.093190	0	0
ZHX3	23051	broad.mit.edu	37	20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:39832810G>T	ENST00000309060.3	-	4	1162	c.747C>A	c.(745-747)aaC>aaA	p.N249K	ZHX3_ENST00000544979.2_Missense_Mutation_p.N249K|ZHX3_ENST00000540170.1_Missense_Mutation_p.N249K|ZHX3_ENST00000432768.2_Missense_Mutation_p.N249K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.N249K|ZHX3_ENST00000559234.1_Missense_Mutation_p.N249K|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N249K(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587000													6	68					0.00116845	0.00123041	0.021553	1	0
CUL4B	8450	broad.mit.edu	37	X	119694330	119694330	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:119694330C>T	ENST00000371322.5	-	1	225	c.164G>A	c.(163-165)aGa>aAa	p.R55K	CUL4B_ENST00000404115.3_Missense_Mutation_p.R73K|CUL4B_ENST00000336592.6_Missense_Mutation_p.R60K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	73	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.R55K(1)|p.R73K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAGTCTTCTCTCTCGTTAct	0.517000													5	15					0	0	0.014758	0	0
CIT	11113	broad.mit.edu	37	12	120159203	120159203	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:120159203G>A	ENST00000392521.2	-	29	3698	c.3643C>T	c.(3643-3645)Ctg>Ttg	p.L1215L	CIT_ENST00000261833.7_Silent_p.L1173L|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1173	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.L1215L(1)|p.L1173L(1)|p.L1216L(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTTGAGTCAGACGGAAAATG	0.468000													11	62					0	0	0.080935	0	0
FLT3	2322	broad.mit.edu	37	13	28636122	28636122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:28636122C>G	ENST00000380982.4	-	3	331	c.250G>C	c.(250-252)Gat>Cat	p.D84H	FLT3_ENST00000537084.1_Missense_Mutation_p.D84H|FLT3_ENST00000241453.7_Missense_Mutation_p.D84H			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	84					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.D84H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGATACATCCACTTCCACA	0.552000			"""Mis, O"""		"""AML, ALL"""								6	42					0	0	0.029380	0	0
ZNF468	90333	broad.mit.edu	37	19	53352431	53352431	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:53352431G>A	ENST00000595646.1	-	3	171	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF468_ENST00000243639.4_Silent_p.F17F|ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F17F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCTCCTGAGAGAATTCTATGG	0.443000													7	158					0	0	0.038147	0	0
DNAH3	55567	broad.mit.edu	37	16	20997001	20997001	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:20997001C>G	ENST00000261383.3	-	48	7062	c.7063G>C	c.(7063-7065)Gat>Cat	p.D2355H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2355					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D2355H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGTTATCATCGACTATCTTT	0.458000													11	108					0	0	0.080935	0	0
HSD17B13	345275	broad.mit.edu	37	4	88239530	88239530	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:88239530T>C	ENST00000328546.4	-	2	333	c.269A>G	c.(268-270)tAt>tGt	p.Y90C	HSD17B13_ENST00000302219.6_Intron|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	90						extracellular region	binding|oxidoreductase activity	p.Y90C(1)		endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTACCACATACGCATGCGC	0.458000													6	62					0	0	0.021553	0	0
SLC26A9	115019	broad.mit.edu	37	1	205902177	205902177	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:205902177C>T	ENST00000367135.3	-	3	274	c.161G>A	c.(160-162)gGg>gAg	p.G54E	SLC26A9_ENST00000340781.4_Missense_Mutation_p.G54E|SLC26A9_ENST00000367134.2_Missense_Mutation_p.G54E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	54						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.G54D(2)|p.G54E(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGCAGCAGCCCAAACACCAC	0.547000													7	44					0	0	0.029380	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883439	64883439	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:64883439G>C	ENST00000279263.7	+	10	1333	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	TM7SF2_ENST00000540748.1_Missense_Mutation_p.E275Q|TM7SF2_ENST00000345348.5_Missense_Mutation_p.E364Q	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	391					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.E391Q(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCGGGATGAGCGGCAGTG	0.622000													4	36					0	0	0.150653	0	0
HCFC1	3054	broad.mit.edu	37	X	153225574	153225574	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:153225574C>T	ENST00000310441.7	-	8	2089	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.A375T|HCFC1_ENST00000354233.3_Missense_Mutation_p.A375T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	375					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A375T(1)|p.A276T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGTTGGCGCGTACCAGT	0.617000													3	11					0	0	0.115264	0	0
NOP14	8602	broad.mit.edu	37	4	2950082	2950082	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:2950082C>G	ENST00000416614.2	-	9	1401	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E446Q|NOP14_ENST00000314262.6_Missense_Mutation_p.E446Q|NOP14_ENST00000398071.4_Missense_Mutation_p.E446Q			P78316	NOP14_HUMAN	NOP14 nucleolar protein	446					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	p.E446Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AAAAGCTGCTCTTCCATCGAT	0.413000													10	88					0	0	0.058154	0	0
ACTA2	59	broad.mit.edu	37	10	90701132	90701132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:90701132G>A	ENST00000458208.1	-	6	944	c.470C>T	c.(469-471)tCt>tTt	p.S157F	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.S157F|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	157					response to virus	cytosol	ATP binding	p.S157F(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACCATCTCCAGAGTCCAGCAC	0.562000													4	50					0	0	0.014758	0	0
GIT1	28964	broad.mit.edu	37	17	27909741	27909741	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:27909741C>T	ENST00000225394.3	-	4	628	c.380G>A	c.(379-381)gGa>gAa	p.G127E	GIT1_ENST00000579937.1_Missense_Mutation_p.G127E|GIT1_ENST00000581348.1_Missense_Mutation_p.G127E|GIT1_ENST00000394869.3_Missense_Mutation_p.G127E|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	127					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	p.G127E(2)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGGTGACTCCATCATCGTC	0.577000													3	30					0	0	0.115264	0	0
LMO2	4005	broad.mit.edu	37	11	33886306	33886306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:33886306G>T	ENST00000257818.2	-	5	1135	c.306C>A	c.(304-306)tgC>tgA	p.C102*	LMO2_ENST00000395833.3_Nonsense_Mutation_p.C33*	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	33	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.C33*(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGTTCTGCTGGCAGCCGCCGC	0.627000			T	TRD@	T-ALL								6	48					5.9392e-07	6.71178e-07	0.021553	1	0
FAT1	2195	broad.mit.edu	37	4	187541654	187541654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:187541654G>T	ENST00000441802.2	-	10	6295	c.6086C>A	c.(6085-6087)tCa>tAa	p.S2029*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2029	Cadherin 18.				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	p.S2029*(1)|p.S2032*(1)		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						CAGAACTCCTGAAGTGCGGCT	0.463000										HNSCC(5;0.00058)			23	219					9.57634e-11	1.1139e-10	0.083992	1	0
GOLGA3	2802	broad.mit.edu	37	12	133374950	133374950	+	Silent	SNP	G	G	T	rs139706790		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:133374950G>T	ENST00000204726.3	-	9	2472	c.1914C>A	c.(1912-1914)atC>atA	p.I638I	GOLGA3_ENST00000537452.1_Silent_p.I638I|GOLGA3_ENST00000450791.2_Silent_p.I638I|GOLGA3_ENST00000456883.2_Silent_p.I638I|GOLGA3_ENST00000545875.1_Silent_p.I638I	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	638	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.I638I(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTGCCGCGATGCGCCCCT	0.587000													7	87					8.12818e-05	8.8962e-05	0.029380	1	0
IL10RB	3588	broad.mit.edu	37	21	34648997	34648997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:34648997G>A	ENST00000433395.2	+	5	653	c.653G>A	c.(652-654)gGg>gAg	p.G218E	IL10RB_ENST00000290200.2_Silent_p.R90R														p.R90R(1)									TGAGAGTCAGGGCTGAATTTG	0.398000													11	148					0	0	0.080935	0	0
COMMD9	29099	broad.mit.edu	37	11	36300153	36300153	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:36300153A>G	ENST00000263401.5	-	3	207	c.191T>C	c.(190-192)cTg>cCg	p.L64P	COMMD9_ENST00000532705.1_Missense_Mutation_p.L64P|COMMD9_ENST00000452374.2_Missense_Mutation_p.L22P	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	64								p.L64P(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GAGGCGGTGCAGAGCCTGGAG	0.572000													9	38					0	0	0.047766	0	0
TSPAN3	10099	broad.mit.edu	37	15	77345133	77345133	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:77345133C>A	ENST00000267970.4	-	5	844	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000424443.3_Missense_Mutation_p.D127Y|TSPAN3_ENST00000346495.2_Missense_Mutation_p.D166Y|TSPAN3_ENST00000559494.1_Missense_Mutation_p.D102Y|TSPAN3_ENST00000558745.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	191						integral to membrane		p.D191Y(1)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GCATAGAGGTCGGAAGGGTGG	0.478000													5	25					3.59834e-05	3.9539e-05	0.021553	1	0
ZNF160	90338	broad.mit.edu	37	19	53573254	53573254	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:53573254T>C	ENST00000601421.1	-	3	1301	c.425A>G	c.(424-426)aAc>aGc	p.N142S	ZNF160_ENST00000599056.1_Missense_Mutation_p.N178S|ZNF160_ENST00000429604.1_Missense_Mutation_p.N178S|ZNF160_ENST00000418871.1_Missense_Mutation_p.N178S			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	178					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N178S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AAGCTGATTGTTCATAAGCTT	0.413000													5	146					0	0	0.021553	0	0
ZNF536	9745	broad.mit.edu	37	19	31039753	31039753	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:31039753C>G	ENST00000355537.3	+	4	3374	c.3227C>G	c.(3226-3228)tCt>tGt	p.S1076C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S1076C(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GACTCTGCTTCTGAGAAGATG	0.552000													8	61					0	0	0.038147	0	0
INPP5F	22876	broad.mit.edu	37	10	121563770	121563770	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:121563770C>T	ENST00000361976.2	+	10	1368	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	401	SAC.						phosphoric ester hydrolase activity	p.S401L(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTCAACAACTCACACCTCACT	0.418000													10	108					0	0	0.069234	0	0
HK1	3098	broad.mit.edu	37	10	71075755	71075755	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:71075755G>A	ENST00000298649.3	+	1	146	c.45G>A	c.(43-45)gaG>gaA	p.E15E	HK1_ENST00000448642.2_Intron|HK1_ENST00000404387.2_Intron|HK1_ENST00000360289.2_Intron	NM_033496.2	NP_277031.1	P19367	HXK1_HUMAN	hexokinase 1	0	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.E15E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAGGTGCTGAGGCCTGGGAGA	0.577000													9	102					0	0	0.047766	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018826	161018826	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:161018826T>C	ENST00000368013.3	-	12	2305	c.1985A>G	c.(1984-1986)cAg>cGg	p.Q662R	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.Q485R|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q662R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	662	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q662R(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGCTCAGCCTGCTTGTCCTC	0.617000													26	145					0	0	0.099896	0	0
LRP2	4036	broad.mit.edu	37	2	170009322	170009322	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:170009322C>A	ENST00000263816.3	-	67	12733	c.12448G>T	c.(12448-12450)Gac>Tac	p.D4150Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4150					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.D4150Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAACCCAGTCCACTGCTATT	0.478000													13	137					0.00010058	0.000109652	0.093190	1	0
EWSR1	2130	broad.mit.edu	37	22	29695597	29695597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:29695597C>T	ENST00000397938.2	+	16	2006	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	EWSR1_ENST00000414183.2_Missense_Mutation_p.R568C|EWSR1_ENST00000332035.6_Missense_Mutation_p.R507C|EWSR1_ENST00000406548.1_Missense_Mutation_p.R562C|EWSR1_ENST00000332050.6_Missense_Mutation_p.R490C|EWSR1_ENST00000331029.7_Missense_Mutation_p.R525C	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	563	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	p.R563C(1)	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						AGGTGGTGATCGTGGCAGAGG	0.607000			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"""								3	33					0	0	0.014758	0	0
PRPF31	26121	broad.mit.edu	37	19	54632681	54632681	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:54632681G>C	ENST00000321030.4	+	13	1659	c.1310G>C	c.(1309-1311)gGg>gCg	p.G437A	PRPF31_ENST00000419967.1_Silent_p.R414R|PRPF31_ENST00000391755.1_Missense_Mutation_p.G431A	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	437					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	p.G437>?(1)|p.G437A(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTATATGGCGGGAAGTCCACC	0.697000											OREG0003636	type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	11					0	0	0.115264	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408514	105408514	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:105408514G>A	ENST00000333244.5	-	7	13393	c.13274C>T	c.(13273-13275)tCt>tTt	p.S4425F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4425						nucleus		p.S4425F(1)		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)			GCTGGGCAGAGACACGTCCAG	0.622000													14	145					0	0	0.146539	0	0
TRIM71	131405	broad.mit.edu	37	3	32927521	32927521	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:32927521G>A	ENST00000383763.5	+	3	1179	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding	p.K372K(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAGGCATAAGAAAGCCCTGG	0.617000													5	39					0	0	0.014758	0	0
APOB	338	broad.mit.edu	37	2	21249677	21249677	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:21249677C>T	ENST00000233242.1	-	15	2354	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	APOB_ENST00000399256.4_Missense_Mutation_p.D743N	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	743					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	p.D743N(1)		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)	TGTTTATCATCTTTGGTATAG	0.393000													7	93					0	0	0.029380	0	0
ZNF283	284349	broad.mit.edu	37	19	44352249	44352249	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:44352249G>C	ENST00000324461.7	+	7	1793	c.1496G>C	c.(1495-1497)gGg>gCg	p.G499A	ZNF283_ENST00000588797.1_Missense_Mutation_p.G360A	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G499A(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TTTTGTAGTGGGTATCAACTT	0.408000													20	102					0	0	0.055883	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	28					0	0	0.115264	0	0
DET1	55070	broad.mit.edu	37	15	89074506	89074506	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:89074506C>A	ENST00000564406.1	-	3	624	c.464G>T	c.(463-465)tGt>tTt	p.C155F	DET1_ENST00000268148.8_Missense_Mutation_p.C144F|DET1_ENST00000444300.1_Missense_Mutation_p.C155F|DET1_ENST00000558413.1_Intron	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	144						nucleus		p.C155F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GAAGAGACTACACTCCCGGTT	0.537000													5	25					0.000602214	0.000638991	0.014758	1	0
SH3D19	152503	broad.mit.edu	37	4	152065152	152065152	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:152065152C>G	ENST00000409598.4	-	12	2460	c.1293G>C	c.(1291-1293)gaG>gaC	p.E431D	SH3D19_ENST00000514152.1_Missense_Mutation_p.E431D|SH3D19_ENST00000304527.4_Missense_Mutation_p.E454D|SH3D19_ENST00000409252.2_Missense_Mutation_p.E454D|SH3D19_ENST00000424281.1_Missense_Mutation_p.E395D|SH3D19_ENST00000455740.1_Missense_Mutation_p.E431D|SH3D19_ENST00000427414.2_Missense_Mutation_p.E395D			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	454	SH3 1.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	p.E451D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCTTTTGGCACTCCAAGTAAT	0.398000													4	55					0	0	0.150653	0	0
KCNH7	90134	broad.mit.edu	37	2	163236421	163236421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:163236421C>G	ENST00000332142.5	-	14	3172	c.3073G>C	c.(3073-3075)Gac>Cac	p.D1025H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1025					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.D1025H(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)	TAGGTGAGGTCGCTTTCGGTT	0.517000													12	154					0	0	0.093190	0	0
BRIP1	83990	broad.mit.edu	37	17	59934548	59934548	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:59934548A>T	ENST00000259008.2	-	4	517	c.250T>A	c.(250-252)Ttg>Atg	p.L84M	BRIP1_ENST00000577598.1_Missense_Mutation_p.L84M	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	84	Helicase ATP-binding.				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	p.L84M(2)		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						CAACATGACAATTGTACTTCA	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					13	72					0	0	0.105934	0	0
TRHDE	29953	broad.mit.edu	37	12	73046177	73046177	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:73046177A>G	ENST00000261180.4	+	16	2712	c.2616A>G	c.(2614-2616)atA>atG	p.I872M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	872					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.I872M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGAATTCATATGGATGAAAT	0.398000													6	74					0	0	0.021553	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870547	51870547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:51870547C>T	ENST00000371497.5	+	2	1437	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R181W|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R181W	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	184					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R184W(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTGCCTTCTCGGTCCGTCTC	0.552000													4	41					0	0	0.150653	0	0
BTN3A3	10384	broad.mit.edu	37	6	26451927	26451927	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:26451927C>T	ENST00000244519.2	+	11	1286	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	BTN3A3_ENST00000361232.3_Missense_Mutation_p.T299M|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T306M	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	348	B30.2/SPRY.					integral to membrane		p.T348M(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GATCCAGACACGGCAAACGCC	0.552000													5	52					0	0	0.021553	0	0
PHC3	80012	broad.mit.edu	37	3	169896709	169896709	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:169896709G>A	ENST00000495893.2	-	2	63	c.32C>T	c.(31-33)aCa>aTa	p.T11I	PHC3_ENST00000481639.1_Missense_Mutation_p.T11I|PHC3_ENST00000497658.1_Missense_Mutation_p.T11I|PHC3_ENST00000467570.1_Missense_Mutation_p.T11I|PHC3_ENST00000494943.1_5'UTR|PHC3_ENST00000474275.1_5'UTR	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.T11I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCCATAGCTGTACTATGGTC	0.413000													12	208					0	0	0.105934	0	0
GAB4	128954	broad.mit.edu	37	22	17447085	17447085	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:17447085G>C	ENST00000400588.1	-	6	1300	c.1193C>G	c.(1192-1194)tCc>tGc	p.S398C		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	398								p.S398C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGTGAGTGGGGAGCCAAGCAG	0.592000													8	57					0	0	0.038147	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125108	12125108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:12125108C>T	ENST00000379388.2	+	4	5412	c.5080C>T	c.(5080-5082)Cag>Tag	p.Q1694*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1694					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.Q1694*(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAAAGGTCATCAGAATGCTTT	0.393000													16	93					0	0	0.146539	0	0
TP53	7157	broad.mit.edu	37	17	7577103	7577103	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:7577103C>G	ENST00000420246.2	-	8	967	c.835G>C	c.(835-837)Ggg>Cgg	p.G279R	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G279R|TP53_ENST00000445888.2_Missense_Mutation_p.G279R|TP53_ENST00000359597.4_Missense_Mutation_p.G279R|TP53_ENST00000455263.2_Missense_Mutation_p.G279R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.G279R(9)|p.0?(8)|p.R280fs*65(7)|p.?(2)|p.G279fs*65(2)|p.G279W(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CGGTCTCTCCCAGGACAGGCA	0.547000		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)			3	30					0	0	0.115264	0	0
FAM57A	79850	broad.mit.edu	37	17	641131	641131	+	Missense_Mutation	SNP	G	G	A	rs143392294	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:641131G>A	ENST00000308278.8	+	3	488	c.252G>A	c.(250-252)atG>atA	p.M84I	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.M84I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	84	TLC.					integral to membrane|plasma membrane		p.M84I(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TTCCATACATGATCTATGACT	0.483000													14	155					0	0	0.119110	0	0
ATPAF2	91647	broad.mit.edu	37	17	17921970	17921970	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:17921970G>A	ENST00000474627.3	-	8	917	c.763C>T	c.(763-765)Cat>Tat	p.H255Y	ATPAF2_ENST00000585101.1_Intron|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	255					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	p.H255Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					TCATAGTCATGGGCCCACTCA	0.607000													7	114					0	0	0.058154	0	0
DUSP8	1850	broad.mit.edu	37	11	1579411	1579411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:1579411G>A	ENST00000397374.3	-	5	755	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.R210W	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	210	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R210W(1)		endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		ATGGGGACCCGCATGAAGCGG	0.582000													4	104					0	0	0.150653	0	0
SCLY	51540	broad.mit.edu	37	2	238999877	238999877	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:238999877G>A	ENST00000254663.6	+	8	1069	c.927G>A	c.(925-927)atG>atA	p.M309I	SCLY_ENST00000373332.3_Missense_Mutation_p.M219I|SCLY_ENST00000555827.1_Missense_Mutation_p.M301I|SCLY_ENST00000409736.2_Missense_Mutation_p.M301I|SCLY_ENST00000422984.2_Missense_Mutation_p.M207I|SCLY_ENST00000429612.2_Intron	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	301					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	p.M301I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ACACCCCAATGATTGCTGGCC	0.463000													10	111					0	0	0.132662	0	0
CUX1	1523	broad.mit.edu	37	7	101845239	101845239	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:101845239C>G	ENST00000360264.3	+	18	2715	c.2695C>G	c.(2695-2697)Cca>Gca	p.P899A	CUX1_ENST00000549414.2_Missense_Mutation_p.P866A|CUX1_ENST00000292535.7_Missense_Mutation_p.P888A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P730A|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P786A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P832A	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	888					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P888A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCTGAGTCCCCATACTCCCA	0.672000													12	61					0	0	0.105934	0	0
C4orf21	55345	broad.mit.edu	37	4	113468478	113468478	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:113468478C>G	ENST00000505019.1	-	24	5686	c.5561G>C	c.(5560-5562)gGa>gCa	p.G1854A		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.G1854A(1)		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)		TTGTTCCAATCCATTTTCATG	0.373000													3	31					0	0	0.115264	0	0
FMO4	2329	broad.mit.edu	37	1	171303803	171303803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:171303803G>C	ENST00000367749.3	+	8	1411	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	361					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.E361Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTAAACCTAGAGAGAGCGAC	0.403000													10	92					0	0	0.069234	0	0
JMY	133746	broad.mit.edu	37	5	78610358	78610358	+	Silent	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:78610358T>G	ENST00000396137.4	+	9	2805	c.2343T>G	c.(2341-2343)ccT>ccG	p.P781P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	781	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.P427P(1)|p.P781P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.468000													6	103					0	0	0.038147	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407903	105407903	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:105407903G>C	ENST00000333244.5	-	7	14004	c.13885C>G	c.(13885-13887)Caa>Gaa	p.Q4629E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4629						nucleus		p.Q4629E(1)		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)			TTTGGTCCTTGAAACTTACTG	0.512000													5	58					0	0	0.021553	0	0
NTNG1	22854	broad.mit.edu	37	1	107937933	107937933	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:107937933G>C	ENST00000370067.1	+	4	1672	c.1045G>C	c.(1045-1047)Ggc>Cgc	p.G349R	NTNG1_ENST00000370071.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370073.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370072.3_Missense_Mutation_p.G349R|NTNG1_ENST00000370061.3_Missense_Mutation_p.G349R|NTNG1_ENST00000370066.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370068.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370074.4_Missense_Mutation_p.G349R|NTNG1_ENST00000370070.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370065.1_Missense_Mutation_p.G349R|NTNG1_ENST00000542803.1_Missense_Mutation_p.G349R			Q9Y2I2	NTNG1_HUMAN	netrin G1	349	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding	p.G349R(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CATCCCCAAAGGCACTGCAAA	0.453000													6	94					0	0	0.029380	0	0
CASP5	838	broad.mit.edu	37	11	104868181	104868181	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:104868181A>C	ENST00000393141.2	-	8	1205	c.1174T>G	c.(1174-1176)Ttc>Gtc	p.F392V	CASP5_ENST00000526056.1_Missense_Mutation_p.F392V|CASP5_ENST00000531367.1_Missense_Mutation_p.F237V|CASP5_ENST00000418434.1_Missense_Mutation_p.F237V|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Missense_Mutation_p.F321V|CASP5_ENST00000260315.3_Missense_Mutation_p.F379V	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	379					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.F392V(1)|p.F363V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCCGTAATGAAGATGGAGCCC	0.418000													6	39					0	0	0.029380	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62964433	62964433	+	RNA	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:62964433C>G	ENST00000430983.1	-	0	1659					NR_026903.1																						CCATTATCCTCACGACTGTGT	0.438000													11	44					0	0	0.069234	0	0
MAP3K5	4217	broad.mit.edu	37	6	136904781	136904781	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:136904781G>A	ENST00000359015.4	-	24	3683	c.3323C>T	c.(3322-3324)aCc>aTc	p.T1108I	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.T355I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1108					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.T1108I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGACAGTGTGGTGGCTATGAT	0.463000													8	67					0	0	0.038147	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	38					0	0	0.038147	0	0
LYST	1130	broad.mit.edu	37	1	235972029	235972029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:235972029G>A	ENST00000389794.3	-	5	2263	c.2089C>T	c.(2089-2091)Cag>Tag	p.Q697*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q697*|LYST_ENST00000536965.1_Nonsense_Mutation_p.Q697*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	697					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.Q697*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACAAAGTTCTGATAAGCCTTT	0.368000													6	52					0	0	0.021553	0	0
SLC6A9	6536	broad.mit.edu	37	1	44466560	44466560	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:44466560C>T	ENST00000372306.3	-	11	1642	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000360584.2_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000372310.3_Intron			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	665						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGGGGTCAGCAGACCCGCAG	0.622000													3	35					0	0	0.115264	0	0
CABYR	26256	broad.mit.edu	37	18	21739618	21739618	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:21739618G>T	ENST00000399496.3	+	5	889	c.724G>T	c.(724-726)Gtc>Ttc	p.V242F	CABYR_ENST00000581397.1_Missense_Mutation_p.V242F|CABYR_ENST00000327201.6_Missense_Mutation_p.V144F|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399481.2_3'UTR|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000399499.1_Missense_Mutation_p.V242F	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TCCACCAAAAGTCACTTTTCC	0.498000													4	54					1.024e-07	1.17149e-07	0.014758	1	0
ABCA10	10349	broad.mit.edu	37	17	67189995	67189995	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67189995G>T	ENST00000269081.4	-	14	2390	c.1481C>A	c.(1480-1482)gCt>gAt	p.A494D	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	494	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.A494D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTTATTTTAGCAAATACCCT	0.328000													9	101					9.70103e-10	1.11904e-09	0.069234	1	0
SLC12A4	6560	broad.mit.edu	37	16	67979985	67979985	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:67979985C>G	ENST00000422611.2	-	19	2653	c.2614G>C	c.(2614-2616)Gtc>Ctc	p.V872L	SLC12A4_ENST00000537830.2_Splice_Site_p.V864L|SLC12A4_ENST00000316341.3_Splice_Site_p.V870L|SLC12A4_ENST00000572037.1_Splice_Site_p.V822L|SLC12A4_ENST00000541864.2_Splice_Site_p.V839L|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000576616.1_Splice_Site_p.V870L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	870					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	p.V870L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCCTCCAGACCTGAGGCAAG	0.592000													3	39					0	0	0.115264	0	0
CAPN13	92291	broad.mit.edu	37	2	30974059	30974059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:30974059delG	ENST00000295055.8	-	11	1322	c.1146delC	c.(1144-1146)accfs	p.T382fs	CAPN13_ENST00000534090.2_Frame_Shift_Del_p.T382fs	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	382					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CGACAACATTGGTGCCTTCCA	0.468													8	46	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													5	5	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	6	---	---	---	---					
CTC-338M12.4	101928649	broad.mit.edu	37	5	180699086	180699087	+	RNA	INS	-	-	A	rs149736603		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:180699086_180699087insA	ENST00000511331.1	+	0	918_919				TRIM52-AS1_ENST00000507434.1_RNA																							CTTTCCATCAGAAAAAAAAAAA	0.406													2	4	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													3	6	---	---	---	---					
ABCA10	10349	broad.mit.edu	37	17	67183864	67183864	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67183864delC	ENST00000269081.4	-	20	3197	c.2288delG	c.(2287-2289)cgcfs	p.R763fs	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	763					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTTTAAGAAGCGAAGTGTTGC	0.378													7	118	---	---	---	---					
NFAM1	150372	broad.mit.edu	37	22	42828309	42828310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:42828309_42828310insT	ENST00000329021.5	-	1	91_92	c.54_55insA	c.(52-57)cctgggfs	p.G19fs		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	19					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GCGGGGAGCCCAGGAGGGCGTG	0.663													2	4	---	---	---	---					
