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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC12	151903	broad.mit.edu	37	3	46964898	46964898	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:46964898G>A	uc011baq.2	-	3	553	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	CCDC12_uc003cqo.2_Intron	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.	0										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		GGCCACCCCaggacaaggggg	0.622000											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			15		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:66937441C>T	uc004dwu.2	+	4	3410	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	764	Interaction with MYST2.|Ligand-binding.		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542000									Androgen Insensitivity Syndrome					3			20		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188243710	188243710	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:188243710T>A	uc010frt.3	-	6	840	c.457A>T	c.(457-459)Att>Ttt	p.I153F	CALCRL_uc002upv.4_Missense_Mutation_p.I153F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	153						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGTGATGCAATAGACAATCCG	0.299000														270			9		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651756	7651756	+	Silent	SNP	C	T	T	rs138586891		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:7651756C>T	uc001qsz.3	-	3	614	c.486G>A	c.(484-486)acG>acA	p.T162T	CD163_uc001qta.3_Silent_p.T162T|CD163_uc009zfw.2_Silent_p.T162T	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	162	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCCTCCACGCGTCAGCCTCA	0.408000														250			122		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:248570073C>T	uc010pzm.2	+	0	778	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507000														81			44		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16870083	16870083	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:16870083A>C	uc002neu.4	+	6	2239	c.1817A>C	c.(1816-1818)gAc>gCc	p.D606A	NWD1_uc002net.4_Missense_Mutation_p.D471A|NWD1_uc002nev.4_Missense_Mutation_p.D400A|NWD1_uc021uqg.1_Missense_Mutation_p.D471A	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	606	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCCTGGACGACGAGGTCCTG	0.612000														58			25		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78131051	78131051	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:78131051G>T	uc003ugx.3	-	4	1062	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	MAGI2_uc003ugy.3_Missense_Mutation_p.Q270K|MAGI2_uc011kgr.1_Missense_Mutation_p.Q102K|MAGI2_uc011kgs.1_Missense_Mutation_p.Q107K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	270	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATAAGGCTGGGAGGGCATC	0.502000														62			21		4.26978e-12	4.60335e-12	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62604623	62604623	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:62604623G>A	uc003peg.2	-	5	974	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	243	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.P243L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGAGGGGTAGGGACACCTCTT	0.582000														37			27		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58384331	58384331	+	Silent	SNP	A	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:58384331A>G	uc002qqo.2	-	2	2699	c.2427T>C	c.(2425-2427)ttT>ttC	p.F809F	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	809					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGCTTTCAGCAAAAGATTTTC	0.383000														35			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179510746	179510746	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:179510746C>T	uc021vsy.1	-	165	32830	c.32605G>A	c.(32605-32607)Gaa>Aaa	p.E10869K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Missense_Mutation_p.E136K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11796	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACCTTTTCAGGTTCAGGT	0.348000														11			9		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824057	114824057	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr4:114824057C>T	uc003ibq.1	-	1	2061	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	ARSJ_uc010imu.1_Silent_p.Q391Q|ARSJ_uc010imv.1_Silent_p.Q219Q	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	391						extracellular region	arylsulfatase activity|metal ion binding	p.Q391Q(2)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCTCATCAATCTGTCCTTCAG	0.458000														77			95		0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689977	42689977	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:42689977G>A	uc003osk.3	-	0	382	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	32			I -> V (in some patients with macular dystrophy).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGAAGATGATGATGCCAGCCA	0.488000														94			59		0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67592108	67592108	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr5:67592108C>T	uc003jva.3	+	14	2504	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	PIK3R1_uc003jvc.3_Nonsense_Mutation_p.R342*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.R372*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.R321*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.R279*	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	642	SH2 2.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R642*(4)|p.R342*(1)|p.R372*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GCGAGGGAAGCGAGATGGCAC	0.458000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				184			9		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364768	6364768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:6364768C>T	uc002gdd.4	-	17	2566	c.2415G>A	c.(2413-2415)atG>atA	p.M805I	PITPNM3_uc010cln.3_Missense_Mutation_p.M769I|PITPNM3_uc010clm.3_Missense_Mutation_p.M288I|PITPNM3_uc002gdc.4_Missense_Mutation_p.M396I	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	805					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGAAGAAGATCATGCCCTGTG	0.607000														238			102		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081348	95081348	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:95081348G>A	uc001ydp.3	+	1	729	c.570G>A	c.(568-570)ggG>ggA	p.G190G	SERPINA3_uc001ydo.4_Silent_p.G215G|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.G190G|SERPINA3_uc001yds.3_Silent_p.G190G	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	190					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACTAGGGGGAAAATCACAG	0.493000														117			54		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294110	25294110	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr22:25294110C>A	uc003abg.2	+	19	2516	c.2359C>A	c.(2359-2361)Ctg>Atg	p.L787M	SGSM1_uc010guu.1_Missense_Mutation_p.L732M|SGSM1_uc003abh.2_Missense_Mutation_p.L726M|SGSM1_uc003abj.2_Missense_Mutation_p.L671M|SGSM1_uc003abi.1_Missense_Mutation_p.L707M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	787	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGAGCCCAGTCTGAGCACAGA	0.612000														85			53		3.28884e-47	3.66016e-47	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62294057	62294057	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:62294057G>A	uc001ntl.3	-	4	8132	c.7832C>T	c.(7831-7833)cCc>cTc	p.P2611L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2611					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAACTTCGGGGCCCTTGAG	0.517000														154			89		0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60666698	60666698	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:60666698G>A	uc001nqf.3	-	10	1114	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	303					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TCATGGGCCCGAACCACCTGT	0.567000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			25		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106185	27106185	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:27106185C>T	uc001bmv.1	+	19	6169	c.5796C>T	c.(5794-5796)gcC>gcT	p.A1932A	ARID1A_uc001bmu.1_Silent_p.A1715A|ARID1A_uc001bmx.1_Silent_p.A778A|ARID1A_uc009vsm.1_Silent_p.A260A|ARID1A_uc009vsn.1_Silent_p.A174A	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1932					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.E1931*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTTCAGAGGCCATCAAGGAGA	0.517000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									61			137		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233292	67233292	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr16:67233292C>T	uc002esa.3	+	0	265	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ELMO3_uc002esb.3_Silent_p.L74L|ELMO3_uc002esc.3_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	21					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCCGCAGCTCATCCAGCTGG	0.701000														129			64		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43531067	43531067	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr21:43531067G>A	uc002zag.1	+	10	1735	c.1735G>A	c.(1735-1737)Gca>Aca	p.A579T	UMODL1_uc002zad.1_Missense_Mutation_p.A507T|UMODL1_uc002zae.1_Missense_Mutation_p.A507T|UMODL1_uc002zaf.1_Missense_Mutation_p.A579T|C21orf128_uc002zak.2_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	576						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGGGAACAGCAGCCCTCGG	0.652000														23			4		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114803975	114803975	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:114803975C>T	uc001tvo.3	-	7	1472	c.977G>A	c.(976-978)aGg>aAg	p.R326K	TBX5_uc001tvp.3_Missense_Mutation_p.R326K|TBX5_uc001tvq.3_Missense_Mutation_p.R276K|TBX5_uc010syv.2_Missense_Mutation_p.R326K	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	326					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R326G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCACCTTTCCTCTTGGTACA	0.507000														18			26		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498000														196			91		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623935	25623935	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr22:25623935C>A	uc003abp.1	+	3	337	c.289C>A	c.(289-291)Ctg>Atg	p.L97M		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	97	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCTCAGCTCCCTGAGGCCCAT	0.597000														69			30		6.00712e-18	6.57923e-18	1	1	0
PGM3	5238	broad.mit.edu	37	6	83878963	83878964	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:83878963_83878964GG>AC	uc011dyz.2	-	13	1871_1872	c.1702_1703CC>GT	c.(1702-1704)cca>GTa	p.P568V	PGM3_uc003pju.2_Missense_Mutation_p.P540V|PGM3_uc003pjw.3_3'UTR|PGM3_uc021zcd.1_Missense_Mutation_p.P540V|DOPEY1_uc003pjt.3_Intron	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	540					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TCAGAAACCTGGTTGGGGCCTT	0.376000														41			16		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974297	44974297	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:44974297C>A	uc001wvn.3	-	0	2203	c.1894G>T	c.(1894-1896)Gct>Tct	p.A632S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	632	Ala-rich.					cilium		p.A632S(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.637000														17			3		5.9392e-07	6.02654e-07	1	1	0
NCAN	1463	broad.mit.edu	37	19	19334907	19334907	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:19334907A>G	uc002nlz.3	+	3	652	c.553A>G	c.(553-555)Agc>Ggc	p.S185G	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	185	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGCCGTCTCAGCTCAGCCAT	0.602000														49			30		0	0	1	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13782265	13782265	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:13782265C>T	uc002wom.3	+	6	696	c.653C>T	c.(652-654)cCt>cTt	p.P218L	NDUFAF5_uc002woo.3_Non-coding_Transcript|NDUFAF5_uc002won.3_Missense_Mutation_p.P190L	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	Homo sapiens chromosome 20 open reading frame 7 (C20orf7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	218					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										CACATTTCTCCTTTCACTGCT	0.453000														72			30		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487847	21487847	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:21487847G>A	uc002kuq.3	+	53	7049	c.6963G>A	c.(6961-6963)ggG>ggA	p.G2321G	LAMA3_uc002kur.3_Silent_p.G2265G|LAMA3_uc002kus.4_Silent_p.G712G|LAMA3_uc002kut.4_Silent_p.G656G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2321	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTATGGGAGGACACAGA	0.488000														89			35		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2338593	2338593	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:2338593C>A	uc001lvy.1	+	8	876	c.739C>A	c.(739-741)Cag>Aag	p.Q247K	TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.Q217K|TSPAN32_uc001lwb.1_Intron|TSPAN32_uc001lwc.1_Missense_Mutation_p.Q192K|TSPAN32_uc001lwd.1_Missense_Mutation_p.Q179K	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	247					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCGCCAGCCCCAGGAGCCCAG	0.577000														6			5		0.217242	0.217242	1	1	0
ZNF619	285267	broad.mit.edu	37	3	40529490	40529490	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:40529490C>T	uc011azb.2	+	5	1916	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S	ZNF619_uc011aza.2_Missense_Mutation_p.P439S|ZNF619_uc011azc.2_Missense_Mutation_p.P497S|ZNF619_uc011azd.2_Missense_Mutation_p.P453S|ZNF619_uc003ckj.3_Missense_Mutation_p.P481S|ZNF619_uc021wwh.1_Missense_Mutation_p.P488S	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	537					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCCTACTGTCCCTGCGCCAT	0.532000														49			20		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73477984	73477984	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:73477984G>C	uc003tzw.3	+	28	2061	c.1970G>C	c.(1969-1971)gGa>gCa	p.G657A	ELN_uc003tzn.3_Missense_Mutation_p.G651A|ELN_uc003tzy.3_Missense_Mutation_p.G627A|ELN_uc003tzz.3_Missense_Mutation_p.G570A|ELN_uc003tzo.3_Missense_Mutation_p.G603A|ELN_uc003tzp.3_Missense_Mutation_p.G562A|ELN_uc003tzq.3_Missense_Mutation_p.G515A|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G632A|ELN_uc003tzt.3_Missense_Mutation_p.G656A|ELN_uc003tzu.3_Missense_Mutation_p.G637A|ELN_uc003tzv.3_Missense_Mutation_p.G622A|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G641A|ELN_uc011kff.2_Missense_Mutation_p.G651A	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	713	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGGACTCGGAGTCGGAGGG	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							150			61		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45630102	45630102	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:45630102C>T	uc002xsm.3	+	2	519	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	EYA2_uc010ghp.3_Missense_Mutation_p.L49F|EYA2_uc002xsq.3_Missense_Mutation_p.L49F	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	49					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGTGTCCCAGCTCTTCTCCAG	0.512000														56			29		0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3272945	3272945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:3272945C>T	uc002klt.4	+	1	189	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	MYL12B_uc010dkl.3_Missense_Mutation_p.R17C|MYL12B_uc010wyv.2_Missense_Mutation_p.R17C	NM_033546	NP_291024	O14950	ML12B_HUMAN	Homo sapiens myosin, light chain 12B, regulatory (MYL12B), transcript variant 2, mRNA.	17					axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GCGCCCTCAGCGTGCAACATC	0.413000														126			57		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36956612	36956612	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:36956612G>A	uc002rpl.3	+	2	398	c.96G>A	c.(94-96)aaG>aaA	p.K32K	VIT_uc002rpk.3_Silent_p.K32K|VIT_uc010ynf.2_Silent_p.K25K|VIT_uc002rpm.3_Silent_p.K32K|VIT_uc010ezv.3_Silent_p.K32K|VIT_uc010ezw.3_Silent_p.K32K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	32						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AAACGGCAAAGAAGATTAAAA	0.308000														71			41		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044208	133044208	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr8:133044208G>A	uc003ytg.2	-	10	951	c.951C>T	c.(949-951)tcC>tcT	p.S317S	OC90_uc011lix.1_Silent_p.S317S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	333					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCGGGCACCGGGATGTCAGAC	0.537000														81			50		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473267	78473267	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr15:78473267C>T	uc002bdh.3	-	8	1289	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	ACSBG1_uc010umx.2_Silent_p.V119V|ACSBG1_uc010umw.2_Silent_p.V357V|ACSBG1_uc010umy.2_Silent_p.V254V	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	361					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCAGCGTGTTCACCAGGCTCC	0.657000														47			34		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698954	17698954	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:17698954C>T	uc002rcl.1	-	0	753	c.729G>A	c.(727-729)ttG>ttA	p.L243L	RAD51AP2_uc010exn.1_Silent_p.L234L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	243										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGCAATTTCCAAGCTGGGCT	0.353000														55			26		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1535823	1535823	+	Silent	SNP	G	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:1535823G>T	uc003skn.2	-	11	1781	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	560					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGATGCCGGCCTCCTTCA	0.657000														72			41		1.1241e-08	1.17519e-08	1	1	0
NOX4	50507	broad.mit.edu	37	11	89069013	89069013	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:89069013C>T	uc001pct.3	-	17	1855	c.1616_splice	c.e17+1	p.G539_splice	NOX4_uc009yvr.3_Splice_Site_p.G514_splice|NOX4_uc001pcu.3_Splice_Site_p.G465_splice|NOX4_uc001pcw.3_Splice_Site_p.G232_splice|NOX4_uc001pcx.3_Splice_Site_p.G192_splice|NOX4_uc001pcv.3_Splice_Site_p.G499_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.G352_splice|NOX4_uc009yvp.3_Splice_Site_p.G303_splice|NOX4_uc010rtv.2_Splice_Site_p.G475_splice|NOX4_uc009yvq.3_Splice_Site_p.G515_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	539	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TAGTACTTACCCTCTGTTATA	0.279000														51			29		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48603074	48603074	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:48603074G>A	uc010xzd.2	-	4	668	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	PLA2G4C_uc002phw.3_Missense_Mutation_p.L36F|PLA2G4C_uc010elr.3_Missense_Mutation_p.L101F|PLA2G4C_uc002phx.3_Missense_Mutation_p.L101F|PLA2G4C_uc002phy.4_Missense_Mutation_p.L101F	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	101	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCAGCCTCGAGAGCTTCCATG	0.488000														172			96		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195609137	195609137	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:195609137G>A	uc003fvu.1	-	5	1215	c.672C>T	c.(670-672)ttC>ttT	p.F224F	TNK2_uc003fvs.1_Silent_p.F256F|TNK2_uc003fvt.1_Silent_p.F287F|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Silent_p.F54F|TNK2_uc010hzx.1_Intron	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	224	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCCCAGGAGGAAGTGGCCCT	0.627000														59			21		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69944934	69944934	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:69944934C>T	uc010kak.3	+	17	2894	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F	BAI3_uc003pev.4_Missense_Mutation_p.S873F|BAI3_uc011dxx.2_Missense_Mutation_p.S79F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	873					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCATGGAATCCTCTGGCACA	0.363000														138			65		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202507	53202507	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:53202507C>T	uc001saz.3	-	4	1184	c.1184G>A	c.(1183-1185)aGg>aAg	p.R395K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	321						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGCCTTGCTCCTCTGGGCAAT	0.582000														86			39		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133802688	133802688	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:133802688G>A	uc011ecs.2	+	11	1392	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	EYA4_uc011ecq.2_Missense_Mutation_p.G299E|EYA4_uc011ecr.2_Missense_Mutation_p.G305E|EYA4_uc003qec.4_Missense_Mutation_p.G353E|EYA4_uc003qed.4_Missense_Mutation_p.G353E|EYA4_uc003qee.4_Missense_Mutation_p.G330E|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	353					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAGTCCAGAGGAAGAGGCCGG	0.453000														144			68		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46868902	46868902	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:46868902C>T	uc021tzm.1	-	8	1097	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	TTLL6_uc002iob.3_Silent_p.R47R|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.R107R|TTLL6_uc002iod.3_Silent_p.R201R	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	306	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTCAATATCCCTCCATATCT	0.552000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		98			41		0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84408199	84408199	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:84408199C>A	uc001djc.3	-	6	1066	c.670G>T	c.(670-672)Ggg>Tgg	p.G224W	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	224	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CGCACAAGCCCATCATGGTAG	0.368000														64			7		5.4927e-09	5.83072e-09	1	1	0
CHD8	57680	broad.mit.edu	37	14	21899283	21899283	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:21899283G>A	uc001war.2	-	0	585	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	CHD8_uc001was.2_Intron|Metazoa_SRP_uc021row.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	174					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGTGCCACATGGGCACCAGTG	0.552000														9			7		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790007	40790007	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:40790007G>A	uc002xkg.3	-	16	2851	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	PTPRT_uc010ggj.3_Silent_p.F908F|PTPRT_uc010ggi.3_Silent_p.F92F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	889	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTCCTCCTTGAACCCGTAGC	0.542000														75			37		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272124	186272124	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:186272124G>A	uc003fqg.3	-	5	1592	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	TBCCD1_uc011bry.2_Missense_Mutation_p.S488F|TBCCD1_uc003fqh.3_Missense_Mutation_p.S392F	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	488					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	p.S488F(2)|p.P487P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CTGATATACAGATGGAAGACC	0.403000														86			43		0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822465	103822465	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr4:103822465C>A	uc003hww.3	-	11	1499	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Nonsense_Mutation_p.E226*	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	453						integral to membrane	solute:hydrogen antiporter activity										CTTGCTGTTTCTAGAGCCAGA	0.418000														183			15		4.4004e-07	4.53176e-07	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					71			68		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171822	4171822	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:4171822G>A	uc002lzl.3	+	9	1358	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	CREB3L3_uc002lzm.3_Silent_p.S404S|CREB3L3_uc010xib.2_Silent_p.S403S|CREB3L3_uc010xic.2_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	414					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S414L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCAATTCGACGGAGGAGC	0.677000														37			17		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	758679	758679	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:758679C>T	uc002lpo.3	+	1	1816	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	578										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		TCCCCAACGCCAGATGAGAAC	0.607000														34			26		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795595	33795595	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:33795595C>T	uc002kzq.4	+	7	1475	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	484					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TTCTTAGGTTCATCATAGACA	0.562000														47			4		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:151773603delA	uc001ezf.1	-	1	1768	c.1578delT	c.(1576-1578)tttfs	p.F526fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.F526fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													---	276	---	---	7	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:96992793_96992795delGAG	uc002svy.3	+	0	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_uc002svx.3_In_Frame_Del_p.E147del|ITPRIPL1_uc010yuk.2_In_Frame_Del_p.E139del|ITPRIPL1_uc010yul.2_In_Frame_Del_p.E139del	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													---	130	---	---	7	---					
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:43647213delT	uc003cmv.3	-	1	303	c.132delA	c.(130-132)aaafs	p.K44fs	ANO10_uc011azs.2_Frame_Shift_Del_p.K44fs|ANO10_uc003cmw.3_Frame_Shift_Del_p.K44fs|ANO10_uc010hil.3_Frame_Shift_Del_p.K44fs|ANO10_uc011azt.2_Frame_Shift_Del_p.K44fs	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	44					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408													---	115	---	---	8	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:53529193_53529195delGAT	uc003dgv.4	+	0					CACNA1D_uc003dgu.4_Start_Codon_Del|CACNA1D_uc003dgy.4_Start_Codon_Del	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													---	244	---	---	8	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:864443_864445delCTG	uc001lsd.1	+	4	471_473	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_uc001lse.1_In_Frame_Del_p.L28del|TSPAN4_uc001lsf.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsg.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsh.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsi.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsj.1_In_Frame_Del_p.L92del	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													---	300	---	---	13	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:43283606delA	uc001mxe.1	-	1		c.1330delT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAA	0.388													---	3	---	---	3	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	-	-	rs142692092	by1000genomes	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	uc001say.3	-	0	462_479	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													---	4	---	---	3	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													---	267	---	---	7	---					
PIGN	23556	broad.mit.edu	37	18	59752471	59752471	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:59752471delA	uc021ulb.1	-	22	2429	c.2397delT	c.(2395-2397)tttfs	p.F799fs	PIGN_uc021ulc.1_Frame_Shift_Del_p.F425fs|PIGN_uc021uld.1_Frame_Shift_Del_p.F425fs	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	799					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TTCCAGTTCCAAAAAATGCTG	0.303													---	4	---	---	2	---