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
ATAD3B	83858	broad.mit.edu	37	1	1412700	1412700	+	Silent	SNP	G	G	A	rs142559400	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:1412700G>A	uc001afv.3	+	1	353	c.252G>A	c.(250-252)acG>acA	p.T84T	ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.3_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	84							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGAGCAGACGCTGCAGTTGG	0.632												
MMEL1	79258	broad.mit.edu	37	1	2524281	2524281	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:2524281G>A	uc001ajy.2	-	19	2206	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	664					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGTTCTGTTCGTCTGCCAGGT	0.637												
PLEKHM2	23207	broad.mit.edu	37	1	16044415	16044415	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:16044415A>G	uc010obo.2	+	3	532	c.305A>G	c.(304-306)aAc>aGc	p.N102S		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	102	Interaction with KIF5B.|RUN.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGCCCTCAACGAGAACTCC	0.572												
ESPNP	284729	broad.mit.edu	37	1	17034522	17034522	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:17034522G>C	uc001azn.1	-	1	246	c.132C>G	c.(130-132)tgC>tgG	p.C44W	ESPNP_uc010ocj.1_5'UTR					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GGCCCTCCTGGCACGCCAGGT	0.706												
ZSWIM5	57643	broad.mit.edu	37	1	45508897	45508897	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:45508897A>G	uc001cnd.2	-	5	1831	c.1603T>C	c.(1603-1605)Tgg>Cgg	p.W535R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	535							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTACCAAGCCACAGTGGCTGG	0.488												
VPS45	11311	broad.mit.edu	37	1	150049176	150049176	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:150049176G>A	uc001etp.3	+	5	1016	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.2_Missense_Mutation_p.R112Q|VPS45_uc010pbs.2_Intron|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	148					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAAGGGTCGAAATTGGGAT	0.353												
KPRP	448834	broad.mit.edu	37	1	152733551	152733551	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:152733551G>A	uc001fal.1	+	1	1545	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	KPRP_uc021ozf.1_Missense_Mutation_p.R496H	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	496	Pro-rich.					cytoplasm		p.R496H(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACTTGGCGCAGCCCCAGC	0.647												
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:245862232G>A	uc001ibf.1	+	13	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(2)|p.H2023Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572												
OR2W3	343171	broad.mit.edu	37	1	248059267	248059267	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:248059267T>G	uc010pzb.2	+	0	379	c.379T>G	c.(379-381)Tgc>Ggc	p.C127G	OR2W3_uc001idp.1_Missense_Mutation_p.C127G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTGGCTATCTGCAAGCCCCT	0.607												
ARHGAP21	57584	broad.mit.edu	37	10	24893240	24893240	+	Splice_Site	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893240C>T	uc001isb.2	-	12	3208	c.2721_splice	c.e12+1	p.K907_splice	ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.K907_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.K742_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	906					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTAATACCAACCTTGATTCCC	0.279												
ARHGAP21	57584	broad.mit.edu	37	10	24893252	24893252	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893252T>C	uc001isb.2	-	11	3197	c.2710A>G	c.(2710-2712)Aag>Gag	p.K904E	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	903					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGATTCCCTTCAGACTAGAT	0.279												
OR52N2	390077	broad.mit.edu	37	11	5842404	5842404	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:5842404C>G	uc010qzp.2	+	0	839	c.839C>G	c.(838-840)gCc>gGc	p.A280G	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A280G(2)|p.A280A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATCGTGGCCAACCTTTAT	0.398												
TPH1	7166	broad.mit.edu	37	11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:18051095C>T	uc001mnp.2	-	3	460	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	145					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264												
C11orf9	745	broad.mit.edu	37	11	61541579	61541579	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:61541579C>G	uc001nsc.1	+	7	1352	c.1256C>G	c.(1255-1257)aCg>aGg	p.T419R	C11orf9_uc001nse.1_Missense_Mutation_p.T410R	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	419					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						TACGTCAAGACGCCCGAGGGC	0.587												
GPR137	56834	broad.mit.edu	37	11	64056613	64056613	+	Splice_Site	SNP	A	A	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:64056613A>C	uc010rni.2	+	9	1234	c.1206_splice	c.e9-2	p.R402_splice	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.Q329P|GPR137_uc001nzi.3_Missense_Mutation_p.Q379P|GPR137_uc021qkt.1_Splice_Site_p.R344_splice|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	344						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTCTTCTCCCAGGTGCCAGGA	0.657												
SCN4B	6330	broad.mit.edu	37	11	118014756	118014756	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118014756C>T	uc001pse.3	-	2	497	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	85	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		ACTTCTCATTCTTCACAGTCC	0.507												
TMEM25	84866	broad.mit.edu	37	11	118404798	118404798	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118404798C>T	uc001ptk.4	+	6	1065	c.891C>T	c.(889-891)tcC>tcT	p.S297S	TMEM25_uc010ryf.2_Silent_p.S200S|TMEM25_uc010rye.2_Silent_p.S297S|TMEM25_uc009zad.3_Silent_p.S253S|TMEM25_uc001pth.3_Silent_p.S253S|TMEM25_uc001pti.3_Silent_p.S149S|TMEM25_uc001ptl.2_Silent_p.S297S|TMEM25_uc001ptm.2_Silent_p.S253S	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	297						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGAACATGTCCCTCCCGTCCA	0.532												
ADAMTS8	11095	broad.mit.edu	37	11	130284455	130284455	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:130284455G>C	uc001qgg.4	-	4	1895	c.1537C>G	c.(1537-1539)Cta>Gta	p.L513V	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	513	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCTCAGGTAGACAGCTGCCT	0.637												
ARNTL2	56938	broad.mit.edu	37	12	27540171	27540171	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:27540171G>A	uc001rht.2	+	6	794	c.575G>A	c.(574-576)gGc>gAc	p.G192D	ARNTL2_uc001rhu.2_Missense_Mutation_p.G178D|ARNTL2_uc001rhv.2_Missense_Mutation_p.G144D|ARNTL2_uc001rhw.3_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.2_Missense_Mutation_p.G155D|ARNTL2_uc009zji.2_Missense_Mutation_p.G158D	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	192	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E191*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTGCAGAAGGCTTCTTATTT	0.333												
ESPL1	9700	broad.mit.edu	37	12	53663689	53663689	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:53663689C>T	uc001sck.2	+	2	1054	c.963C>T	c.(961-963)gtC>gtT	p.V321V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	321					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCAGCTGTCCTGAGCAAGA	0.577												
TXNRD1	7296	broad.mit.edu	37	12	104705084	104705084	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:104705084G>A	uc021rcx.1	+	4	453	c.431G>A	c.(430-432)aGa>aAa	p.R144K	TXNRD1_uc021rcy.1_Missense_Mutation_p.R46K|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_5'UTR|TXNRD1_uc021rdb.1_5'UTR|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Missense_Mutation_p.R44K|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.R60K|TXNRD1_uc001tkv.2_Non-coding_Transcript	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	144	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CAGGAGGGCAGACTTCAAAAG	0.373												
AACS	65985	broad.mit.edu	37	12	125609456	125609457	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:125609456_125609457delCA	uc001uhc.3	+	11	1401_1402	c.1195_1196delCA	c.(1195-1197)cacfs	p.H399fs	AACS_uc001uhd.3_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	399					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGTGGAAACCCACAGTCTCCAG	0.505												
LRRC57	255252	broad.mit.edu	37	15	42836285	42836285	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:42836285G>A	uc001zqd.2	-	4	1084	c.716C>T	c.(715-717)gCg>gTg	p.A239V	LRRC57_uc001zqc.3_Missense_Mutation_p.A239V	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.	239										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGAACTTCACGCAAACTTCTT	0.408												
HMG20A	10363	broad.mit.edu	37	15	77771653	77771653	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:77771653G>A	uc002bcr.3	+	9	1241	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	HMG20A_uc002bcs.3_Missense_Mutation_p.R347H|HMG20A_uc021sra.1_5'Flank	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	347					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D346N(1)|p.D346Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGACTCGATCGTTAGGGAATG	0.368												
TMC3	342125	broad.mit.edu	37	15	81627093	81627093	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:81627093G>A	uc021ssk.1	-	20	2427	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	809						integral to membrane				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						TGGATTTGGGGACCCCAGGGA	0.572												
OTOA	146183	broad.mit.edu	37	16	21716537	21716537	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:21716537C>T	uc002djh.3	+	10	1029	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.A264V|OTOA_uc002dji.3_Missense_Mutation_p.A19V|OTOA_uc010vbk.2_5'UTR	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	357					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGCTGGATGCCACTGTGGCT	0.577												
GDPD3	79153	broad.mit.edu	37	16	30123709	30123709	+	Missense_Mutation	SNP	C	C	T	rs76435425		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:30123709C>T	uc002dwp.3	-	4	480	c.401G>A	c.(400-402)cGt>cAt	p.R134H	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Missense_Mutation_p.R72H|NR_027081_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	134	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GTCCTCCAGACGAACCATGCG	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IRF8	3394	broad.mit.edu	37	16	85952071	85952071	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:85952071G>A	uc002fjh.3	+	6	707	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	217					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AAGCTGGTGGGCCAGGCCACC	0.662												
SPAG5	10615	broad.mit.edu	37	17	26907060	26907064	+	Frame_Shift_Del	DEL	GGAAG	GGAAG	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:26907060_26907064delGGAAG	uc002hbq.3	-	15	2852_2856	c.2760_2764delCTTCC	c.(2758-2766)accttcctgfs	p.T920fs	SPAG5_uc010waq.1_Frame_Shift_Del_p.T325fs	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	920					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCTTCCCAGGAAGGTCCTGTCAT	0.507												
MYO18A	399687	broad.mit.edu	37	17	27424907	27424907	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:27424907T>C	uc002hdt.1	-	25	4159	c.4001A>G	c.(4000-4002)gAt>gGt	p.D1334G	MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1334					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTTCAGTGCATCGTACTGGGT	0.542												
ACE	1636	broad.mit.edu	37	17	61571327	61571327	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:61571327G>A	uc002jau.2	+	20	3215	c.3181G>A	c.(3181-3183)Gcc>Acc	p.A1061T	ACE_uc010wpj.2_Missense_Mutation_p.A487T|ACE_uc010ddv.2_Missense_Mutation_p.A288T|ACE_uc002jav.2_Missense_Mutation_p.A487T|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A307T	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1061	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGACAAGATCGCCTTTATCCC	0.552												
PHLPP1	23239	broad.mit.edu	37	18	60645528	60645528	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr18:60645528C>T	uc021ule.1	+	16	4263	c.4018C>T	c.(4018-4020)Cgc>Tgc	p.R1340C		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1340	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGAGTCCACGCGCATCCTGGG	0.582												
ATP8B3	148229	broad.mit.edu	37	19	1795945	1795945	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:1795945C>T	uc002ltw.3	-	17	2218	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	ATP8B3_uc002ltv.3_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	662					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGTCGGCGCCCTTGGTG	0.632											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYO9B	4650	broad.mit.edu	37	19	17320489	17320489	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:17320489C>T	uc010eak.3	+	35	5871	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C	MYO9B_uc002nfi.3_Missense_Mutation_p.R1907C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1907C|MYO9B_uc002nfm.1_Missense_Mutation_p.R67C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1907	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TATCGCCTTCCGCAGGCTTTC	0.587												
CRTC1	23373	broad.mit.edu	37	19	18870986	18870986	+	Silent	SNP	C	C	T	rs140237275	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:18870986C>T	uc010ebv.3	+	8	970	c.882C>T	c.(880-882)acC>acT	p.T294T	CRTC1_uc002nkb.4_Silent_p.T278T|CRTC1_uc010ebw.3_Silent_p.T143T	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	278					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCAGCAGCACCGGCAACCTCG	0.697												
CD177	57126	broad.mit.edu	37	19	43859911	43859911	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:43859911G>C	uc002owi.3	+	3	520	c.478G>C	c.(478-480)Gat>Cat	p.D160H	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	160	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACACTGTTATGATGGCCTCCT	0.582												
TPO	7173	broad.mit.edu	37	2	1457495	1457495	+	Missense_Mutation	SNP	C	C	T	rs139312937		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:1457495C>T	uc002qwr.3	+	5	598	c.512C>T	c.(511-513)aCg>aTg	p.T171M	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.T171M|TPO_uc002qwx.3_Missense_Mutation_p.T171M|TPO_uc002qwu.3_Missense_Mutation_p.T171M|TPO_uc010yio.2_Missense_Mutation_p.T171M|TPO_uc010yip.2_Missense_Mutation_p.T171M	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	171					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.T171M(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCTCCAACACGGCCCTGGCA	0.587												
TTN	7273	broad.mit.edu	37	2	179438088	179438088	+	Silent	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:179438088A>G	uc021vsy.1	-	274	65292	c.65067T>C	c.(65065-65067)taT>taC	p.Y21689Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y15384Y|TTN_uc021vta.1_Silent_p.Y15317Y|TTN_uc021vtb.1_Silent_p.Y15192Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22616	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCCACAATATAATTGATGA	0.408												
JAG1	182	broad.mit.edu	37	20	10630946	10630946	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:10630946C>T	uc002wnw.2	-	8	1699	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	JAG1_uc010gcd.1_5'UTR	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	395	EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACTTAAATCCGTTAACCAGG	0.463									Alagille Syndrome			
CEP250	11190	broad.mit.edu	37	20	34067060	34067060	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:34067060G>A	uc021wco.1	+	17	2746	c.2099G>A	c.(2098-2100)cGt>cAt	p.R700H	CEP250_uc010zve.2_Missense_Mutation_p.R68H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	700	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTCAGTCACGTCACCAGCAG	0.592												
USP41	373856	broad.mit.edu	37	22	20721910	20721910	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr22:20721910G>T	uc011ahq.1	-	4	495	c.429C>A	c.(427-429)ttC>ttA	p.F143L	USP41_uc011ahp.1_Missense_Mutation_p.F35L					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CCCTGGGCTGGAAGAAGCAGT	0.488												
PANX2	56666	broad.mit.edu	37	22	50615939	50615939	+	Silent	SNP	C	C	T	rs35622534		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr22:50615939C>T	uc003bjn.4	+	1	798	c.798C>T	c.(796-798)gaC>gaT	p.D266D	PANX2_uc003bjp.4_Silent_p.D132D|PANX2_uc003bjo.4_Silent_p.D266D	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	266					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGTCCCCGGACGGGGCGGCAG	0.692												
CELSR3	1951	broad.mit.edu	37	3	48694272	48694272	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr3:48694272G>A	uc003cuf.1	-	3	4468	c.4468C>T	c.(4468-4470)Cgc>Tgc	p.R1490C	CELSR3_uc003cul.3_Missense_Mutation_p.R1420C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1420	EGF-like 3; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCGGCAGCGCAGGCCAGCG	0.672												
LRRC66	339977	broad.mit.edu	37	4	52862310	52862310	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:52862310C>A	uc003gzi.3	-	3	885	c.878G>T	c.(877-879)gGc>gTc	p.G293V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	293						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGGGAGTGCCCCCGTTGGC	0.483												
FRAS1	80144	broad.mit.edu	37	4	79421050	79421050	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:79421050G>A	uc003hlb.2	+	60	9731	c.9291G>A	c.(9289-9291)aaG>aaA	p.K3097K	FRAS1_uc003hlc.1_Silent_p.K99K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3092	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTACCCAAAGAGCCGAGTCT	0.483												
PRKG2	5593	broad.mit.edu	37	4	82126062	82126062	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:82126062C>T	uc003hmh.2	-	0	153	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	PRKG2_uc011cch.1_Missense_Mutation_p.R47Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	47					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ATGGTACTCCCGCTCCTGGAT	0.557												
RXFP1	59350	broad.mit.edu	37	4	159533468	159533468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:159533468C>T	uc003ipz.3	+	7	897	c.634C>T	c.(634-636)Cga>Tga	p.R212*	RXFP1_uc010iqj.2_Nonsense_Mutation_p.R41*|RXFP1_uc010iqk.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cja.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iqo.3_Nonsense_Mutation_p.R212*|RXFP1_uc011cjb.2_Nonsense_Mutation_p.R158*|RXFP1_uc011cjc.2_Nonsense_Mutation_p.R131*|RXFP1_uc011cjd.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iql.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cje.2_Nonsense_Mutation_p.R239*|RXFP1_uc010iqm.3_Nonsense_Mutation_p.R179*|RXFP1_uc011cjf.2_Nonsense_Mutation_p.R82*|RXFP1_uc010iqn.3_Nonsense_Mutation_p.R158*	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCACCTCAGTCGAATTTCCCC	0.294												
SLC6A18	348932	broad.mit.edu	37	5	1244838	1244838	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:1244838C>T	uc003jby.2	+	10	1735	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	538					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATCATCCTCCTGTTCTGGAA	0.617												
NSUN2	54888	broad.mit.edu	37	5	6622137	6622137	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:6622137G>A	uc003jdu.3	-	5	995	c.614C>T	c.(613-615)cCc>cTc	p.P205L	NSUN2_uc003jdt.3_5'Flank|NSUN2_uc011cmk.2_Missense_Mutation_p.P170L|NSUN2_uc003jdv.3_Intron	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	205						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.V204A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGGAAAGGGGACATTCAT	0.413												
UTP15	84135	broad.mit.edu	37	5	72866479	72866480	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:72866479_72866480GG>TA	uc003kcw.1	+	5	839_840	c.616_617GG>TA	c.(616-618)ggg>TAg	p.G206*	UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	206					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CGTTGAGCATGGGCAGCCAGTG	0.401												
CMYA5	202333	broad.mit.edu	37	5	79026182	79026182	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:79026182G>A	uc003kgc.3	+	1	1666	c.1594G>A	c.(1594-1596)Gta>Ata	p.V532I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	532	Glu-rich.					perinuclear region of cytoplasm		p.I531I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAGATCGTAGAACTTGA	0.418												
PCDHGC5	56114	broad.mit.edu	37	5	140712004	140712004	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:140712004G>A	uc003lji.2	+	0	1753	c.1753G>A	c.(1753-1755)Ggc>Agc	p.G585S	PCDHGC5_uc011dan.2_Missense_Mutation_p.G585S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	586	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677												
BTN1A1	696	broad.mit.edu	37	6	26508920	26508920	+	Silent	SNP	A	A	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:26508920A>C	uc003nif.4	+	6	1156	c.1099A>C	c.(1099-1101)Agg>Cgg	p.R367R		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	367	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGTGGGAGACAGGACTGACTG	0.532												
KCTD20	222658	broad.mit.edu	37	6	36437942	36437942	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:36437942A>G	uc003ome.3	+	1	459	c.68A>G	c.(67-69)gAt>gGt	p.D23G	KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Missense_Mutation_p.D23G|KCTD20_uc011dto.2_Intron|KCTD20_uc011dtm.2_5'UTR	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	23						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTAGTGGATGATACTTTAGCT	0.473												
TFAP2D	83741	broad.mit.edu	37	6	50740520	50740520	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:50740520C>T	uc003paf.3	+	7	1814	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	434							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAAAGCTCCCCTGCGGAAAA	0.483												
IBTK	25998	broad.mit.edu	37	6	82924063	82924066	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:82924063_82924066delACTA	uc003pjl.1	-	11	2609_2612	c.2082_2085delTAGT	c.(2080-2085)gttagtfs	p.V694fs	IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	694					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTGCCTCTCACTAACTGTTTGAG	0.338												
HDAC9	9734	broad.mit.edu	37	7	18624954	18624954	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:18624954G>A	uc003sui.3	+	1	114	c.73G>A	c.(73-75)Gac>Aac	p.D25N	HDAC9_uc003sue.3_Missense_Mutation_p.D25N|HDAC9_uc011jyd.2_Missense_Mutation_p.D25N|HDAC9_uc003suh.3_Missense_Mutation_p.D25N|HDAC9_uc003suj.3_Missense_Mutation_p.D25N|HDAC9_uc011jya.2_Missense_Mutation_p.D67N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc003sud.2_Missense_Mutation_p.D25N|HDAC9_uc011jyc.2_Missense_Mutation_p.D25N|HDAC9_uc011jyb.2_Missense_Mutation_p.D25N|HDAC9_uc003suf.2_Missense_Mutation_p.D53N|HDAC9_uc010kud.2_Missense_Mutation_p.D25N|HDAC9_uc011jye.2_5'UTR|HDAC9_uc011jyf.2_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	25	Interaction with CTBP1 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCACCTTTAGACCTAAGGAC	0.498												
BMPER	168667	broad.mit.edu	37	7	34118619	34118619	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:34118619G>A	uc011kap.2	+	12	1603	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	410	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGACGCCCGCCGGACACGC	0.622												
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
NSUN5	55695	broad.mit.edu	37	7	72722785	72722785	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:72722785C>T	uc003txw.3	-	0	80	c.3G>A	c.(1-3)atG>atA	p.M1I	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.M1I|NSUN5_uc003txv.3_Missense_Mutation_p.M1I|NSUN5_uc003txx.3_Missense_Mutation_p.M1I	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	1							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CATACAGCCCCATGTTCCCGC	0.657												
OR2A5	393046	broad.mit.edu	37	7	143748358	143748359	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:143748358_143748359insA	uc011ktw.2	+	0	864_865	c.864_865insA	c.(862-867)ttgatcfs	p.L288fs		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGAACCCCTTGATCTATAGCCT	0.525												
NEFM	4741	broad.mit.edu	37	8	24775980	24775980	+	Missense_Mutation	SNP	A	A	G	rs145571992		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:24775980A>G	uc003xed.4	+	2	2645	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	NEFM_uc011lac.1_Missense_Mutation_p.K653R|NEFM_uc010lue.3_Missense_Mutation_p.K495R	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	871	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTGCTACCAAATACATCACT	0.428												
RB1CC1	9821	broad.mit.edu	37	8	53570293	53570293	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:53570293G>A	uc003xre.4	-	14	2654	c.2096C>T	c.(2095-2097)aCg>aTg	p.T699M	RB1CC1_uc003xrf.4_Missense_Mutation_p.T699M	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAATCAAACGTATGTGCATC	0.398												
RIMS2	9699	broad.mit.edu	37	8	104898339	104898339	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:104898339C>T	uc003yls.3	+	1	1087	c.846C>T	c.(844-846)ggC>ggT	p.G282G	RIMS2_uc003ylp.3_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.3_Silent_p.G312G|RIMS2_uc003ylr.3_Silent_p.G312G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	535					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGAAAGGCGGTAAAATGC	0.433										HNSCC(12;0.0054)		
RIMS2	9699	broad.mit.edu	37	8	105257209	105257209	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:105257209A>T	uc003yls.3	+	23	3695	c.3454A>T	c.(3454-3456)Atg>Ttg	p.M1152L	RIMS2_uc003ylp.3_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.3_Missense_Mutation_p.M948L|RIMS2_uc003ylr.3_Missense_Mutation_p.M973L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1196					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCGTGGAAATGAGGAACTG	0.473										HNSCC(12;0.0054)		
TG	7038	broad.mit.edu	37	8	134107297	134107297	+	Missense_Mutation	SNP	G	G	A	rs139465983	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:134107297G>A	uc003ytw.3	+	41	7290	c.7249G>A	c.(7249-7251)Gca>Aca	p.A2417T	TG_uc010mdw.3_Missense_Mutation_p.A1176T|TG_uc011ljb.2_Missense_Mutation_p.A786T|TG_uc011ljc.2_Missense_Mutation_p.A550T|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2417					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGAGGCTCCGCACTCTCCCC	0.587												
CYP11B2	1585	broad.mit.edu	37	8	143999226	143999226	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:143999226C>T	uc003yxk.1	-	0	34	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	11					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCGCTGCCACGCACACCTCT	0.612									Familial Hyperaldosteronism type I			
RECQL4	9401	broad.mit.edu	37	8	145737371	145737371	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:145737371G>A	uc003zdj.3	-	19	3358	c.3316C>T	c.(3316-3318)Cgc>Tgc	p.R1106C		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	1106			R -> H (in dbSNP:rs34236392).		DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAAAGTAGCGGCCGAGCAGG	0.677			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			
BNC2	54796	broad.mit.edu	37	9	16435843	16435843	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:16435843G>A	uc003zml.3	-	5	2489	c.2349C>T	c.(2347-2349)taC>taT	p.Y783Y	BNC2_uc011lmw.2_Silent_p.Y688Y|BNC2_uc003zmm.3_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.2_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.3_Silent_p.Y548Y|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAAACATGTCGTAAGTGGGGT	0.493												
PGM5	5239	broad.mit.edu	37	9	71098902	71098902	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:71098902G>A	uc004agr.3	+	8	1646	c.1417G>A	c.(1417-1419)Gtg>Atg	p.V473M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	473					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TGTCTACAGCGTGGCGAAGAC	0.502												
NACC2	138151	broad.mit.edu	37	9	138903727	138903727	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:138903727G>A	uc004cgv.4	-	5	1555	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NACC2_uc010nbh.3_Missense_Mutation_p.R106C	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	467					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						ATGACCGTGCGGTACATCTCC	0.697												
CACNA1B	774	broad.mit.edu	37	9	141012523	141012523	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:141012523C>G	uc004cog.3	+	41	6042	c.5897C>G	c.(5896-5898)tCa>tGa	p.S1966*	CACNA1B_uc022bqn.1_Nonsense_Mutation_p.S1966*|CACNA1B_uc004coi.3_Nonsense_Mutation_p.S1180*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1968					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGGGCGGTCAGGAGCACTG	0.637												
MXRA5	25878	broad.mit.edu	37	X	3235282	3235282	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:3235282C>T	uc004crg.4	-	5	6597	c.6440G>A	c.(6439-6441)cGc>cAc	p.R2147H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2147	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCGTGATGCGCGCGTTGGC	0.706												
ATP11C	286410	broad.mit.edu	37	X	138908934	138908934	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:138908934T>C	uc004faz.3	-	1	184	c.85A>G	c.(85-87)Aat>Gat	p.N29D	ATP11C_uc004fba.3_Missense_Mutation_p.N29D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	29					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTGGATGATTGCCAACAAAC	0.373