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
FAM179B	23116	broad.mit.edu	37	14	45433228	45433228	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:45433228C>T	ENST00000361462.2	+	1	1787	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.A535V|FAM179B_ENST00000361577.3_Missense_Mutation_p.A535V			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	535							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGCTTTTGCCGTATTGGCA	0.453000													4	145					0	0	0.009096	0	0
GIN1	54826	broad.mit.edu	37	5	102444350	102444350	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr5:102444350G>C	ENST00000399004.2	-	2	156	c.62C>G	c.(61-63)aCt>aGt	p.T21S	GIN1_ENST00000508629.1_Missense_Mutation_p.T21S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	21					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ATATTCACCAGTTCGTTTGTA	0.328000													3	46					0	0	0.004672	0	0
FAIM2	23017	broad.mit.edu	37	12	50264321	50264321	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:50264321A>G	ENST00000320634.3	-	12	1011	c.917T>C	c.(916-918)tTc>tCc	p.F306S	FAIM2_ENST00000550890.1_Missense_Mutation_p.F260S	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	306					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGCAGGAAGAAGGTGAAGAT	0.552000													30	49					0	0	0.012213	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	13					6.4e-05	7.43434e-05	0.004672	1	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													4	26					0	0	0.009096	0	0
ACBD5	91452	broad.mit.edu	37	10	27520723	27520723	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:27520723A>G	ENST00000396271.3	-	4	455	c.329T>C	c.(328-330)aTg>aCg	p.M110T	ACBD5_ENST00000375905.4_Missense_Mutation_p.M75T|ACBD5_ENST00000375901.1_Start_Codon_SNP_p.M1T|ACBD5_ENST00000375888.1_Missense_Mutation_p.M108T|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Start_Codon_SNP_p.M1T	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	108	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTCTTTGGTCATATCACCCAG	0.328000													5	69					0	0	0.000602	0	0
NISCH	11188	broad.mit.edu	37	3	52526419	52526419	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526419G>A	ENST00000345716.4	+	21	4570	c.4436G>A	c.(4435-4437)aGa>aAa	p.R1479K	NISCH_ENST00000479054.1_Missense_Mutation_p.R1479K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1479					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTGAGAGCAGAGAGAAGCTC	0.657000													32	92					0	0	0.008361	0	0
GRINA	2907	broad.mit.edu	37	8	145066705	145066705	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:145066705C>T	ENST00000313269.5	+	6	1173	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	GRINA_ENST00000395068.4_Missense_Mutation_p.L299F	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	299						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCGCCATTCTCTGCATCTT	0.617000													13	24					0	0	0.003163	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764225	83764225	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:83764225G>C	ENST00000265362.3	-	2	469	c.155C>G	c.(154-156)gCc>gGc	p.A52G	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A52G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	52	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGAGCTGTTGGCCAAGCCATT	0.393000													22	34					0	0	0.014323	0	0
SACS	26278	broad.mit.edu	37	13	23909544	23909544	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:23909544G>A	ENST00000382298.3	-	10	9059	c.8471C>T	c.(8470-8472)tCa>tTa	p.S2824L	SACS_ENST00000402364.1_Missense_Mutation_p.S2074L|SACS_ENST00000382292.3_Missense_Mutation_p.S2824L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2824					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAAAGCCTGATCTATTACA	0.393000													12	53					0	0	0.010729	0	0
JUN	3725	broad.mit.edu	37	1	59248693	59248693	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:59248693G>A	ENST00000371222.2	-	1	1092	c.50C>T	c.(49-51)tCg>tTg	p.S17L		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	17					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CGGGAGGAACGAGGCGTTGAG	0.552000			A		sarcoma								15	128					0	0	0.002450	0	0
CACNA1S	779	broad.mit.edu	37	1	201009764	201009764	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:201009764G>A	ENST00000362061.3	-	42	5438	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1719S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1738					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGGGGGCAGGAGGTGCCTGG	0.607000													4	57					0	0	0.000602	0	0
PSPC1	55269	broad.mit.edu	37	13	20325529	20325529	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:20325529A>T	ENST00000338910.4	-	4	1008	c.849T>A	c.(847-849)gaT>gaA	p.D283E		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	283	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.D283E(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTCCATTTCATCAAGAGCCT	0.423000													6	159					0	0	0.001168	0	0
CAND1	55832	broad.mit.edu	37	12	67699222	67699222	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:67699222T>A	ENST00000545606.1	+	10	2211	c.1774T>A	c.(1774-1776)Tgt>Agt	p.C592S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	592					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGCTATTTCCTGTATGGGACA	0.368000													7	116					0	0	0.001984	0	0
CASC4	113201	broad.mit.edu	37	15	44630079	44630079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:44630079C>G	ENST00000299957.6	+	5	994	c.695C>G	c.(694-696)tCa>tGa	p.S232*	CASC4_ENST00000345795.2_Nonsense_Mutation_p.S232*|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	232						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GAAGAACCCTCAAGCAATCAT	0.299000													3	58					0	0	0.004672	0	0
PRC1	9055	broad.mit.edu	37	15	91523559	91523559	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:91523559C>T	ENST00000361188.5	-	7	2094	c.883G>A	c.(883-885)Gag>Aag	p.E295K	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.E295K|PRC1_ENST00000361919.3_Missense_Mutation_p.E295K|PRC1_ENST00000442656.2_Missense_Mutation_p.E254K			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	295	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAATTGCCTCAATCACTTTC	0.443000													18	90					0	0	0.004990	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	15					0	0	0.004672	0	0
USP45	85015	broad.mit.edu	37	6	99924037	99924037	+	Silent	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:99924037C>G	ENST00000327681.6	-	9	1447	c.915G>C	c.(913-915)gtG>gtC	p.V305V	USP45_ENST00000392738.2_Silent_p.V43V|USP45_ENST00000500704.2_Silent_p.V305V|USP45_ENST00000369233.2_Silent_p.V305V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	305					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTCTGTCCTCACTGCATCCA	0.408000													8	45					0	0	0.003080	0	0
KAT2A	2648	broad.mit.edu	37	17	40271403	40271403	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:40271403G>A	ENST00000225916.5	-	6	986	c.933C>T	c.(931-933)taC>taT	p.Y311Y		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	311					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGTGGTTTCGTAGCGGGGGA	0.582000													44	69					0	0	0.014410	0	0
ANO1	55107	broad.mit.edu	37	11	70007786	70007786	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:70007786G>A	ENST00000355303.5	+	18	2144	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ANO1_ENST00000531349.1_Silent_p.L322L|ANO1_ENST00000530676.1_Silent_p.L467L|ANO1_ENST00000538023.1_Silent_p.L613L|ANO1_ENST00000398543.2_Silent_p.L467L|ANO1_ENST00000316296.5_Silent_p.L555L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	613					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTTTCCTGCTGAAGTTTGTGA	0.527000													20	103					0	0	0.012319	0	0
FANCC	2176	broad.mit.edu	37	9	97933399	97933399	+	Silent	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:97933399G>C	ENST00000289081.3	-	6	737	c.483C>G	c.(481-483)ctC>ctG	p.L161L	FANCC_ENST00000375305.1_Silent_p.L161L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	161					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GATTCTCTCTGAGTTCAGACG	0.363000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	26					0	0	0.003080	0	0
INTS9	55756	broad.mit.edu	37	8	28635438	28635438	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28635438G>C	ENST00000416984.2	-	12	1599	c.1240C>G	c.(1240-1242)Cct>Gct	p.P414A	INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000397363.4_Missense_Mutation_p.P329A|INTS9_ENST00000521022.1_Missense_Mutation_p.P435A|INTS9_ENST00000521777.1_Missense_Mutation_p.P411A	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	435					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGCTGGTAAGGAGCCAGGGCT	0.502000													8	43					0	0	0.006214	0	0
VEZT	55591	broad.mit.edu	37	12	95660246	95660246	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:95660246G>C	ENST00000436874.1	+	5	653	c.548G>C	c.(547-549)aGa>aCa	p.R183T	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R135T	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	183						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTGGTCATAAGAGCTTTGAGA	0.428000													38	224					0	0	0.004289	0	0
DYX1C1	161582	broad.mit.edu	37	15	55727220	55727220	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:55727220G>C	ENST00000321149.3	-	8	1297	c.930C>G	c.(928-930)atC>atG	p.I310M	DYX1C1_ENST00000448430.2_Missense_Mutation_p.I310M|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.I310M|DYX1C1_ENST00000380679.1_Missense_Mutation_p.I310M|DYX1C1_ENST00000457155.2_Missense_Mutation_p.I310M	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	310					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TATATGCATTGATAGCTGCCA	0.318000													13	75					0	0	0.001855	0	0
ABL2	27	broad.mit.edu	37	1	179077269	179077269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077269G>A	ENST00000502732.1	-	12	3336	c.3133C>T	c.(3133-3135)Caa>Taa	p.Q1045*	ABL2_ENST00000504405.1_Nonsense_Mutation_p.Q906*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.Q927*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.Q1030*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.Q1009*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.Q942*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.Q1024*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.Q921*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1045	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAGGCACTTGAGGTGGAGGC	0.552000			T	ETV6	AML								10	91					0	0	0.006214	0	0
HADH	3033	broad.mit.edu	37	4	108911038	108911038	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr4:108911038C>T	ENST00000403312.1	+	1	169	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	HADH_ENST00000603302.1_5'UTR|HADH_ENST00000309522.3_5'UTR	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	0					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	CTGCCCGCCTCGCGCGTCTTC	0.741000													4	12					0	0	0.009096	0	0
SESN1	27244	broad.mit.edu	37	6	109322623	109322623	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:109322623G>A	ENST00000436639.2	-	3	1159	c.414C>T	c.(412-414)ggC>ggT	p.G138G	SESN1_ENST00000356644.7_Silent_p.G79G|SESN1_ENST00000302071.2_Silent_p.G13G	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	79					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TATCCAAACGGCCCAAAGCAG	0.403000													3	33					0	0	0.004672	0	0
ABCB5	340273	broad.mit.edu	37	7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:20782555G>A	ENST00000404938.2	+	25	3732	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	582					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATCCATGTCGCCCAGATGTT	0.468000													7	49					0	0	0.003080	0	0
ZNF250	58500	broad.mit.edu	37	8	146107607	146107607	+	Missense_Mutation	SNP	G	G	T	rs2953878		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:146107607G>T	ENST00000292579.7	-	6	1092	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L321M|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGCTCCGCAGAACAGTGCTA	0.542000													10	14					1.08611e-07	1.31476e-07	0.010729	1	0
ESPNP	0	broad.mit.edu	37	1	17023376	17023376	+	RNA	SNP	C	C	T	rs613579	by1000genomes	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:17023376C>T	ENST00000492551.1	-	0	1571					NR_026567.1																						CCAGTAGCTCCGAGTTGTCGC	0.617000													6	46					0	0	0.001984	0	0
DNAH9	1770	broad.mit.edu	37	17	11515089	11515089	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:11515089T>C	ENST00000262442.3	+	4	964	c.896T>C	c.(895-897)gTt>gCt	p.V299A	DNAH9_ENST00000579828.1_Missense_Mutation_p.V299A|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.V299A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	299	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACAGAGATGTTGTTGCAGGT	0.453000													4	83					0	0	0.009096	0	0
ERLEC1	27248	broad.mit.edu	37	2	54014378	54014378	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014378C>G	ENST00000185150.4	+	1	162	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L11V|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L11V|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	11					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CGTACGGAGTCTGGTCCCGGG	0.692000													11	43					0	0	0.008291	0	0
DTNB	1838	broad.mit.edu	37	2	25754346	25754346	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:25754346T>C	ENST00000406818.3	-	9	1246	c.997A>G	c.(997-999)Ata>Gta	p.I333V	DTNB_ENST00000545439.1_Missense_Mutation_p.I129V|DTNB_ENST00000288642.8_Missense_Mutation_p.I333V|DTNB_ENST00000405222.1_Missense_Mutation_p.I333V|DTNB_ENST00000407661.3_Missense_Mutation_p.I333V|DTNB_ENST00000407038.3_Missense_Mutation_p.I333V|DTNB_ENST00000407186.1_Missense_Mutation_p.I333V|DTNB_ENST00000496972.2_Missense_Mutation_p.I276V|DTNB_ENST00000404103.3_Missense_Mutation_p.I333V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	333						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTACACTATATGTGCAAGG	0.468000													69	57					0	0	0.014410	0	0
LZTR1	8216	broad.mit.edu	37	22	21340177	21340177	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:21340177C>G	ENST00000215739.8	+	3	670	c.311C>G	c.(310-312)tCc>tGc	p.S104C	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582000													6	32					0	0	0.003080	0	0
CHD7	55636	broad.mit.edu	37	8	61707670	61707670	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:61707670A>G	ENST00000423902.2	+	4	2701	c.2222A>G	c.(2221-2223)gAg>gGg	p.E741G	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E741G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	741					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAAGATGAGGACCCAGGT	0.433000													3	136					0	0	0.009096	0	0
ERLEC1	27248	broad.mit.edu	37	2	54014410	54014410	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014410C>T	ENST00000185150.4	+	1	194	c.63C>T	c.(61-63)ctC>ctT	p.L21L	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Silent_p.L21L|ERLEC1_ENST00000378239.5_Silent_p.L21L|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	21					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TACTGGTCCTCTGCGGCCTCC	0.687000													14	64					0	0	0.002450	0	0
EXOSC3	51010	broad.mit.edu	37	9	37783998	37783998	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:37783998G>C	ENST00000327304.5	-	2	399	c.387C>G	c.(385-387)ttC>ttG	p.F129L	EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR|EXOSC3_ENST00000396521.3_Missense_Mutation_p.F129L	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	129					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CATCAACTTTGAATATATCTC	0.383000													15	76					0	0	0.002450	0	0
UGGT2	55757	broad.mit.edu	37	13	96555252	96555252	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:96555252C>G	ENST00000376747.3	-	21	2428	c.2358G>C	c.(2356-2358)gaG>gaC	p.E786D		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	786					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGCTGTGTTCTCTTCATTTA	0.333000													7	40					0	0	0.001984	0	0
PPAN-P2RY11	0	broad.mit.edu	37	19	10221422	10221422	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:10221422G>A	ENST00000428358.1	+	11	1253	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PPAN_ENST00000393793.1_Missense_Mutation_p.E308K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E361K|PPAN_ENST00000556468.1_Missense_Mutation_p.E361K|PPAN_ENST00000253107.7_Missense_Mutation_p.E361K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		361					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGGTAGTGATGAAGAGGCCTC	0.602000													7	91					0	0	0.003080	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519644	137519644	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:137519644G>T	ENST00000367739.4	-	7	1115	c.994C>A	c.(994-996)Cca>Aca	p.P332T	IFNGR1_ENST00000543628.1_Missense_Mutation_p.P304T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	332					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCATGCCTGGAACTGTTGCT	0.413000													22	32					1.9806e-07	2.37259e-07	0.014323	1	0
RBPJ	3516	broad.mit.edu	37	4	26432321	26432321	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr4:26432321G>A	ENST00000342320.4	+	11	1329	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	RBPJ_ENST00000361572.6_Missense_Mutation_p.E399K|RBPJ_ENST00000355476.3_Missense_Mutation_p.E385K|RBPJ_ENST00000342295.1_Missense_Mutation_p.E399K|RBPJ_ENST00000345843.3_Missense_Mutation_p.E384K|RBPJ_ENST00000504907.1_Missense_Mutation_p.R350K|RBPJ_ENST00000348160.4_Missense_Mutation_p.E386K|RBPJ_ENST00000507561.1_Missense_Mutation_p.E364K			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	399	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAGGTGTGGAGAGAGTATGCT	0.408000													5	56					0	0	0.001168	0	0
NISCH	11188	broad.mit.edu	37	3	52526412	52526412	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526412G>A	ENST00000345716.4	+	21	4563	c.4429G>A	c.(4429-4431)Gag>Aag	p.E1477K	NISCH_ENST00000479054.1_Missense_Mutation_p.E1477K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1477					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCCCAGTGCTGAGAGCAGAGA	0.662000													39	105					0	0	0.004289	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:22661208C>T	ENST00000426066.1	+	0	300					NR_027293.1																						CTGAATCATGCAGAATTTGAA	0.408000													3	29					0	0	0.004672	0	0
ZNF512	84450	broad.mit.edu	37	2	27822493	27822493	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:27822493G>A	ENST00000556601.1	+	3	329	c.53G>A	c.(52-54)aGg>aAg	p.R18K	ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Silent_p.Q30Q|ZNF512_ENST00000416005.2_Silent_p.Q106Q|ZNF512_ENST00000379717.1_Silent_p.Q106Q|ZNF512_ENST00000355467.4_Silent_p.Q107Q			Q96ME7	ZN512_HUMAN	zinc finger protein 512	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AACCCAGGCAGGAAGAAGATG	0.408000													4	49					0	0	0.009096	0	0
FLG2	388698	broad.mit.edu	37	1	152325779	152325779	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:152325779C>T	ENST00000388718.5	-	3	4555	c.4483G>A	c.(4483-4485)Gga>Aga	p.G1495R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1495							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTTCTTCCAGTTGTACTG	0.522000													10	414					0	0	0.010729	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	28					0	0	0.002780	0	0
DOCK11	139818	broad.mit.edu	37	X	117819739	117819739	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:117819739G>A	ENST00000276204.6	+	53	6277	c.6203G>A	c.(6202-6204)gGt>gAt	p.G2068D	DOCK11_ENST00000276202.7_Missense_Mutation_p.G2064D			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2064					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGTGACCGAGGTTATGGTTCC	0.403000													71	89					0	0	0.014410	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													4	74					0	0	0.000602	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716069	48716069	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:48716069G>C	ENST00000294129.2	-	12	2012	c.1893C>G	c.(1891-1893)ttC>ttG	p.F631L	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F631L|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F624L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	631					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTGTGGTAGAAGATGGCAG	0.582000													12	58					0	0	0.013537	0	0
LONRF1	91694	broad.mit.edu	37	8	12594452	12594452	+	Silent	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:12594452C>G	ENST00000398246.3	-	5	1380	c.1311G>C	c.(1309-1311)gtG>gtC	p.V437V	LONRF1_ENST00000533751.1_Silent_p.V80V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	437					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CATTTACAATCACATCCTGTT	0.318000													12	26					0	0	0.010729	0	0
PLCXD1	55344	broad.mit.edu	37	X	209756	209756	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:209756T>C	ENST00000381657.2	+	6	1118	c.604T>C	c.(604-606)Tat>Cat	p.Y202H	PLCXD1_ENST00000399012.1_Missense_Mutation_p.Y202H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.Y202H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	202	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGTCTCCTATGAAGACGA	0.632000													3	49					0	0	0.004672	0	0
NFATC2	4773	broad.mit.edu	37	20	50071158	50071158	+	Silent	SNP	G	G	A	rs146686251	by1000genomes	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:50071158G>A	ENST00000371564.3	-	6	1995	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	NFATC2_ENST00000414705.1_Silent_p.G572G|NFATC2_ENST00000396009.3_Silent_p.G592G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	592					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.G592G(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTGCTGGCCGCCATAGACCA	0.502000													5	171					0	0	0.001168	0	0
PNOC	5368	broad.mit.edu	37	8	28196729	28196729	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28196729G>A	ENST00000301908.3	+	3	507	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	PNOC_ENST00000522209.1_Missense_Mutation_p.R36Q|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	100					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.R100E(1)|p.R100Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGAATGCCCCGAGTCCGGAGC	0.632000													5	40					0	0	0.000602	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57985101	57985101	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:57985101C>T	ENST00000354947.5	+	1	45	c.29C>T	c.(28-30)aCg>aTg	p.T10M	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.T10M|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.T10M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.T10M			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	10						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCACCAGCCACGGTATCGGCG	0.672000													21	67					0	0	0.014323	0	0
NGEF	25791	broad.mit.edu	37	2	233757743	233757743	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:233757743T>C	ENST00000264051.3	-	7	1285	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	NGEF_ENST00000373552.4_Missense_Mutation_p.E244G|NGEF_ENST00000539537.1_Missense_Mutation_p.E59G	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	336	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCCGGTGCTCCAGCTCCAG	0.592000													3	63					0	0	0.000602	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058528	95058528	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:95058528C>T	ENST00000329597.7	+	6	1383	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SERPINA5_ENST00000553780.1_Silent_p.F391F|SERPINA5_ENST00000554866.1_Silent_p.F391F|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.F391F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	391					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTGATGTTCATTGTGGATA	0.562000													57	360					0	0	0.014410	0	0
RIF1	55183	broad.mit.edu	37	2	152320159	152320159	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:152320159G>A	ENST00000243326.4	+	29	4608	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E	RIF1_ENST00000430328.2_Silent_p.E1375E|RIF1_ENST00000444746.2_Silent_p.E1375E|RIF1_ENST00000453091.2_Silent_p.E1375E|RIF1_ENST00000428287.2_Silent_p.E1375E			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1375					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTGTAGAGGAGAAAAATGTAG	0.353000													18	54					0	0	0.004990	0	0
ANAPC11	51529	broad.mit.edu	37	17	79857212	79857212	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:79857212C>T	ENST00000357385.3	+	3	340	c.204C>T	c.(202-204)atC>atT	p.I68I	ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579133.1_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGTGCCCATCAACACAGCTT	0.607000													9	30					0	0	0.006214	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													4	44					0	0	0.003080	0	0
TMEM26	219623	broad.mit.edu	37	10	63188763	63188763	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:63188763G>C	ENST00000399298.3	-	4	894	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E	TMEM26_ENST00000399293.1_Missense_Mutation_p.Q176E	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	176						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGAAGAAGTTGAGAGAGTTGA	0.448000													12	33					0	0	0.013537	0	0
GPR114	221188	broad.mit.edu	37	16	57601840	57601840	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:57601840C>G	ENST00000340339.4	+	9	1417	c.894C>G	c.(892-894)ttC>ttG	p.F298L	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.F298L	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	298					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACATCGCCTTCCTGCTGAGCC	0.612000													6	25					0	0	0.001168	0	0
RBM4	5936	broad.mit.edu	37	11	66407597	66407597	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:66407597G>A	ENST00000483858.1	+	2	482	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_Intron|RBM4_ENST00000408993.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.E139K					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTTTCAAGGTGAACCACCCTC	0.488000													10	67					0	0	0.008291	0	0
C20orf197	284756	broad.mit.edu	37	20	58645884	58645884	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:58645884G>T	ENST00000313426.1	+	4	608	c.302G>T	c.(301-303)aGt>aTt	p.S101I		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	101										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			gctctgcaaagttctgcacca	0.478000													3	11					6.4e-05	7.43434e-05	0.004672	1	0
ATG9A	79065	broad.mit.edu	37	2	220089873	220089873	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:220089873G>A	ENST00000409618.1	-	7	875	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ATG9A_ENST00000396761.2_Missense_Mutation_p.R146W|ATG9A_ENST00000409422.1_Missense_Mutation_p.R85W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R146W			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	146					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATAAGCCGGTGGATCCAG	0.522000													4	93					0	0	0.009096	0	0
CNR2	1269	broad.mit.edu	37	1	24201958	24201958	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:24201958C>G	ENST00000536471.1	-	3	408	c.150G>C	c.(148-150)gaG>gaC	p.E50D	CNR2_ENST00000374472.4_Missense_Mutation_p.E50D			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	50					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	p.E50E(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557000													6	67					0	0	0.004482	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349703	65349703	+	Silent	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:65349703G>C	ENST00000309295.4	+	9	1825	c.1560G>C	c.(1558-1560)ggG>ggC	p.G520G		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	520										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTATTGAGGGGACAGGCCTGG	0.637000													4	14					0	0	0.000602	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1																						CCCCCACCCCGTCATGTACAG	0.413000													3	26					0	0	0.004672	0	0
ABL2	27	broad.mit.edu	37	1	179077163	179077163	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077163G>C	ENST00000502732.1	-	12	3442	c.3239C>G	c.(3238-3240)tCa>tGa	p.S1080*	ABL2_ENST00000504405.1_Nonsense_Mutation_p.S941*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.S962*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.S1065*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.S1044*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.S977*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.S1059*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.S956*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1080	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGTCTGCTGAGATTTTCTC	0.532000			T	ETV6	AML								8	37					0	0	0.003080	0	0
NISCH	11188	broad.mit.edu	37	3	52526232	52526232	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526232G>A	ENST00000345716.4	+	21	4383	c.4249G>A	c.(4249-4251)Gac>Aac	p.D1417N	NISCH_ENST00000479054.1_Missense_Mutation_p.D1417N	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1417					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGGGACCTGGACCGAGTGCT	0.637000													27	112					0	0	0.003954	0	0
DNM1P46	0	broad.mit.edu	37	15	100331686	100331686	+	RNA	SNP	T	T	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:100331686T>G	ENST00000341853.1	-	0	2505					NR_003260.1																						ACAGTGAGGGTGGAGGCAGAG	0.537000													4	19					0	0	0.001168	0	0
WDR34	89891	broad.mit.edu	37	9	131397416	131397416	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:131397416G>A	ENST00000372715.2	-	6	996	c.936C>T	c.(934-936)ttC>ttT	p.F312F	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	312						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TGACCAGGGCGAAGCCCTCTG	0.672000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	47					0	0	0.001855	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999968	45999968	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:45999968C>G	ENST00000400372.1	-	1	513	c.488G>C	c.(487-489)tGc>tCc	p.C163S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	163	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAGGAGGTGCAGCAAGTCGG	0.602000													26	163					0	0	0.005443	0	0
ZNF786	136051	broad.mit.edu	37	7	148767890	148767890	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:148767890C>T	ENST00000316286.9	-	3	1988	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	ZNF786_ENST00000491431.1_Silent_p.V658V|ZNF786_ENST00000451334.3_Silent_p.V621V			Q8N393	ZN786_HUMAN	zinc finger protein 786	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGAGTGTTTCACAAAGCCCT	0.572000													12	88					0	0	0.001855	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769559	13769559	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:13769559C>T	ENST00000279593.3	-	5	1367	c.1158G>A	c.(1156-1158)atG>atA	p.M386I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	386					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATAGTACTTCATCTGCAGGG	0.502000													11	67					0	0	0.013537	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571317	155571317	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:155571317T>C	ENST00000392845.2	-	1	850	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y157C	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	157					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTGGATAAATAGATCATGAA	0.488000													3	59					0	0	0.009096	0	0
GRIK1	2897	broad.mit.edu	37	21	30961208	30961208	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:30961208T>G	ENST00000399914.1	-	10	1996	c.1475A>C	c.(1474-1476)cAg>cCg	p.Q492P	GRIK1_ENST00000389124.2_Missense_Mutation_p.Q507P|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q509P|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q492P|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q509P|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q507P			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	507					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTGTCATTCTGGGCCCCATA	0.368000													15	78					0	0	0.006122	0	0
PKHD1	5314	broad.mit.edu	37	6	51613023	51613023	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:51613023G>A	ENST00000371117.3	-	58	9666	c.9391C>T	c.(9391-9393)Cat>Tat	p.H3131Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.H3131Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3131					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTATAGAGATGAAGGCCATGA	0.458000													5	292					0	0	0.001168	0	0
ZFPM1	161882	broad.mit.edu	37	16	88600417	88600417	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:88600417T>A	ENST00000319555.3	+	10	2373	c.2051T>A	c.(2050-2052)cTg>cAg	p.L684Q		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	684					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGCCGCACGCTGTGCGAGGCC	0.756000													3	11					0	0	0.004672	0	0
EVPL	2125	broad.mit.edu	37	17	74005905	74005905	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:74005905G>C	ENST00000301607.3	-	22	3634	c.3381C>G	c.(3379-3381)atC>atG	p.I1127M	EVPL_ENST00000586740.1_Missense_Mutation_p.I1149M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1127	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCGAGCTGATAGCCCGCT	0.642000													18	39					0	0	0.004990	0	0
ZNF528	84436	broad.mit.edu	37	19	52919958	52919958	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:52919958C>G	ENST00000360465.3	+	7	2279	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGTCACAATTCTGACCTTGCA	0.418000													8	47					0	0	0.006214	0	0
PPIG	9360	broad.mit.edu	37	2	170493789	170493789	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:170493789C>T	ENST00000260970.3	+	14	2241	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	PPIG_ENST00000409714.3_Missense_Mutation_p.S659L|PPIG_ENST00000448752.2_Missense_Mutation_p.S674L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	674					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CATAATAGCTCAAATAACAGC	0.348000													16	51					0	0	0.004990	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439358	150439358	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:150439358G>T	ENST00000358647.3	+	3	498	c.131G>T	c.(130-132)gGg>gTg	p.G44V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCACAGGGAACAGCATC	0.527000													9	52					1.12685e-05	1.33596e-05	0.004482	1	0
FCF1	51077	broad.mit.edu	37	14	75190043	75190043	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:75190043C>G	ENST00000341162.4	+	5	415	c.361C>G	c.(361-363)Cta>Gta	p.L121V	FCF1_ENST00000553615.1_Missense_Mutation_p.L106V|FCF1_ENST00000534938.2_Missense_Mutation_p.L109V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	121	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TCGAGTGGCTCTAAGGTAGGA	0.378000													9	32					0	0	0.004482	0	0
DMXL2	23312	broad.mit.edu	37	15	51791873	51791873	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:51791873A>G	ENST00000251076.5	-	18	3835	c.3548T>C	c.(3547-3549)cTt>cCt	p.L1183P	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.L1183P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1183						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCCACTGTAAGAATGTGGGA	0.408000													3	40					0	0	0.004672	0	0
FAP	2191	broad.mit.edu	37	2	163039925	163039925	+	Splice_Site	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:163039925C>G	ENST00000188790.4	-	21	2075	c.1869_splice	c.e21+1	p.W623_splice	FAP_ENST00000443424.1_Splice_Site_p.W598_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	623					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACAACTCACCCAGCCCCATAT	0.303000													3	108					0	0	0.009096	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	29					0	0	0.004672	0	0
RNF2	6045	broad.mit.edu	37	1	185060797	185060797	+	Missense_Mutation	SNP	G	G	C	rs144442502	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:185060797G>C	ENST00000367510.3	+	3	462	c.174G>C	c.(172-174)ttG>ttC	p.L58F	RNF2_ENST00000367509.4_Missense_Mutation_p.L58F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	58	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TGGATATGTTGAAGAACACCA	0.388000													7	141					0	0	0.001984	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	91					0	0	0.009096	0	0
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs56194704		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggc>ctCTGgggc	p.33_34LG>LWG		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639													2	4	---	---	---	---