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
IQCF1	132141	broad.mit.edu	37	3	51937003	51937003	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:51937003C>T	uc003dbv.3	-	1	204	c.106G>A	c.(106-108)Gag>Aag	p.E36K	IQCF1_uc003dbq.4_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	36										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTCCTACCTCTGCCTTTGAC	0.493000														278			151		0	0	0.003610	0	0
KNG1	3827	broad.mit.edu	37	3	186459368	186459368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:186459368G>A	uc011bsa.2	+	9	1417	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	KNG1_uc003fqr.3_Missense_Mutation_p.E395K|KNG1_uc021xil.1_Missense_Mutation_p.E359K	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	395					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	ACGAATAGGGGAAATAAAAGA	0.408000														46			11		0	0	0.008291	0	0
ANGPT1	284	broad.mit.edu	37	8	108264220	108264220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:108264220G>A	uc003ymn.3	-	8	1828	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S	ANGPT1_uc011lhv.2_Missense_Mutation_p.P254S|ANGPT1_uc003ymo.3_Missense_Mutation_p.P453S	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	454	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGATTGGAGGGGCCACAAGCA	0.388000														85			18		0	0	0.012319	0	0
WDR24	84219	broad.mit.edu	37	16	735547	735547	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:735547C>T	uc002ciz.1	-	6	2489	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	707										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCCACGATCTCGTGGCGCAGC	0.711000														22			9		0	0	0.004482	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554899	40554899	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:40554899C>T	uc003xnr.3	-	3	360	c.214G>A	c.(214-216)Gat>Aat	p.D72N	ZMAT4_uc003xns.3_Missense_Mutation_p.D72N	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	72						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGTTCTTATCCACCATGTCG	0.478000														35			4		0	0	0.000602	0	0
SAG	6295	broad.mit.edu	37	2	234237135	234237135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:234237135G>A	uc002vuh.2	+	7	912	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SAG_uc010zmq.1_Missense_Mutation_p.R41Q	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	175					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGCTCCGTGCGATTACTGATC	0.592000														81			49		0	0	0.003610	0	0
TEK	7010	broad.mit.edu	37	9	27206637	27206637	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr9:27206637A>G	uc011lno.2	+	13	2735	c.2293A>G	c.(2293-2295)Aaa>Gaa	p.K765E	TEK_uc003zqi.4_Missense_Mutation_p.K808E|TEK_uc011lnp.2_Missense_Mutation_p.K660E|TEK_uc003zqj.1_Missense_Mutation_p.K742E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	808					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGGAAGGTCAAAAACAACCC	0.413000														20			7		0	0	0.001984	0	0
RTTN	25914	broad.mit.edu	37	18	67742749	67742749	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:67742749C>G	uc002lkp.2	-	32	4471	c.4403G>C	c.(4402-4404)gGc>gCc	p.G1468A	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.G556A	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1468							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAGCGATAGGCCAGAGTCCTC	0.423000														70			16		0	0	0.004007	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217172	150217172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:150217172G>A	uc003whk.3	+	1	240	c.110G>A	c.(109-111)aGa>aAa	p.R37K	GIMAP7_uc022apu.1_Missense_Mutation_p.R37K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	37							GTP binding	p.S36Y(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTGATTCTAGAATTGCTGCC	0.502000														31			87		0	0	0.003610	0	0
MAST3	23031	broad.mit.edu	37	19	18245446	18245446	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:18245446C>T	uc002nhz.4	+	14	1542	c.1542C>T	c.(1540-1542)atC>atT	p.I514I		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	514	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGTCCAAGATCGGCCTCATGA	0.627000														14			3		0	0	0.004672	0	0
PTPRT	11122	broad.mit.edu	37	20	41306658	41306658	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:41306658C>T	uc002xkg.3	-	6	1185	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.W334*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	334	Fibronectin type-III 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)				GGTCTCTGCCCACGTGCCTGT	0.557000														100			42		0	0	0.008740	0	0
CR2	1380	broad.mit.edu	37	1	207647635	207647635	+	Nonsense_Mutation	SNP	G	T	T	rs149039701		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:207647635G>T	uc001hfw.3	+	11	2232	c.2113G>T	c.(2113-2115)Gga>Tga	p.G705*	CR2_uc001hfv.3_Nonsense_Mutation_p.G764*|CR2_uc009xch.3_Nonsense_Mutation_p.G705*	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	705	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G764R(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGCTGAAAATGGAATTTGGTT	0.378000														95			23		5.35356e-11	5.7472e-11	0.002780	1	0
DOCK2	1794	broad.mit.edu	37	5	169484667	169484667	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:169484667G>A	uc003maf.3	+	43	4544	c.4464G>A	c.(4462-4464)tcG>tcA	p.S1488S	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.S980S|DOCK2_uc003mah.3_Silent_p.S44S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1488	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCACATGTCGCAGGTGAGTC	0.577000														42			45		0	0	0.003610	0	0
CD63	967	broad.mit.edu	37	12	56120529	56120529	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120529C>T	uc001shn.3	-	4	566	c.381G>A	c.(379-381)ccG>ccA	p.P127P	CD63_uc009znz.3_Silent_p.P104P|CD63_uc001sho.3_Silent_p.P127P	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	127					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GGTTGTTTTTCGGGTAATTCT	0.507000														89			83		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113933877	113933877	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:113933877C>T	uc003ynu.3	-	9	1771	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	CSMD3_uc003ynt.3_Missense_Mutation_p.D498N|CSMD3_uc011lhx.2_Missense_Mutation_p.D434N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	538	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCTGTGATCACTCCAAGCA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				40			21		0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168100621	168100621	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:168100621G>A	uc002udx.3	+	8	2808	c.2719G>A	c.(2719-2721)Ggg>Agg	p.G907R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G732R|XIRP2_uc010fpq.3_Missense_Mutation_p.G685R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	732					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAGAAAAAGGGGATGTTAG	0.353000														38			6		0	0	0.001984	0	0
TTC17	55761	broad.mit.edu	37	11	43469611	43469611	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:43469611C>T	uc001mxi.3	+	18	2795	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C	TTC17_uc010rfj.2_Missense_Mutation_p.R909C|TTC17_uc001mxl.3_5'Flank	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	909							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCTCAAACTCCGCTGGGTAGA	0.483000														57			14		0	0	0.002450	0	0
TAC1	6863	broad.mit.edu	37	7	97365643	97365643	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:97365643G>A	uc003uop.4	+	5	568	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	TAC1_uc003uoq.4_Intron|TAC1_uc003uor.4_Missense_Mutation_p.G93S|TAC1_uc003uos.4_Intron	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	108					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TGGACTAATGGGCAAAAGAGC	0.269000														223			40		0	0	0.011902	0	0
CLDN4	1364	broad.mit.edu	37	7	73246112	73246112	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:73246112C>T	uc003tzi.4	+	0	920	c.581C>T	c.(580-582)tCc>tTc	p.S194F	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	194					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				AAGCCTTACTCCGCCAAGTAT	0.627000														60			17		0	0	0.006122	0	0
XPOT	11260	broad.mit.edu	37	12	64813917	64813917	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64813917C>A	uc001ssb.3	+	6	1063	c.557C>A	c.(556-558)tCa>tAa	p.S186*	XPOT_uc009zqm.2_Nonsense_Mutation_p.S96*	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	186	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CTGGTGGAATCATGGTACCAA	0.383000														33			41		2.87052e-16	3.1121e-16	0.005524	1	0
KCNIP1	30820	broad.mit.edu	37	5	170139862	170139862	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:170139862C>T	uc003mas.3	+	1	595	c.66C>T	c.(64-66)atC>atT	p.I22I	KCNIP1_uc003map.3_Intron|KCNIP1_uc003mat.3_Intron|KCNIP1_uc010jjp.3_Intron|KCNIP1_uc010jjq.3_Intron	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	22					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.I22I(2)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTAGACATCGCCTGGTGGT	0.413000														113			18		0	0	0.007413	0	0
TAC1	6863	broad.mit.edu	37	7	97363116	97363116	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:97363116G>C	uc003uop.4	+	2	451	c.205G>C	c.(205-207)Ggc>Cgc	p.G69R	TAC1_uc003uoq.4_Missense_Mutation_p.G69R|TAC1_uc003uor.4_Missense_Mutation_p.G69R|TAC1_uc003uos.4_Missense_Mutation_p.G69R	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	69					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TGGATTAATGGGCAAACGGGA	0.592000														86			13		0	0	0.003163	0	0
SNX9	51429	broad.mit.edu	37	6	158353276	158353276	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:158353276C>T	uc003qqv.1	+	12	1511	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	446	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGAGTTTGGCCACAGTGTTCA	0.448000														24			8		0	0	0.006214	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364686	47364686	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:47364686C>A	uc021qis.1	-	14	1292	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	MYBPC3_uc021qir.1_Nonsense_Mutation_p.E65*|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	412	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCGATGGACTCAAAGATGTAC	0.647000														15			5		3.59834e-05	3.78863e-05	0.001168	1	0
DAGLA	747	broad.mit.edu	37	11	61495718	61495718	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:61495718C>T	uc001nsa.3	+	6	846	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	244					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTGCTGCTCCGGCAGCGGCA	0.617000														68			33		0	0	0.010818	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058642	67058642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:67058642G>A	uc003dmy.3	+	3	1692	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	KBTBD8_uc011bfv.2_Missense_Mutation_p.E105K	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	547								p.E547D(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACTGTTGAAGAACACGTCTT	0.413000														84			16		0	0	0.004990	0	0
TBX18	9096	broad.mit.edu	37	6	85448233	85448233	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:85448233G>A	uc003pkl.1	-	6	1081	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	TBX18_uc010kbq.2_Missense_Mutation_p.P203S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	361					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P361H(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAATTCCAGGGATATCTTCA	0.453000														91			24		0	0	0.003954	0	0
METTL19	152992	broad.mit.edu	37	4	8469883	8469883	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:8469883C>T	uc003glg.2	+	8	1755	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P	METTL19_uc003glf.1_Silent_p.P338P|METTL19_uc003glh.1_Silent_p.P187P	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	579					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						GAGCAGGGCCCCAGGCTGAAG	0.607000														32			10		0	0	0.006214	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47641991	47641991	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:47641991G>A	uc002xtx.4	+	35	5049	c.4897G>A	c.(4897-4899)Gag>Aag	p.E1633K	ARFGEF2_uc010zyf.2_Missense_Mutation_p.E926K	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1633					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTCCAATTACGAGCAGCGGAC	0.473000														50			10		0	0	0.001855	0	0
THSD1P1	374500	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	T	T	rs138483057	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr13:52864028C>T	uc001vgm.1	-	1		c.130G>A								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		TAGAATGATACTCCAAAGGAA	0.313000														21			4		0	0	0.009096	0	0
XPOT	11260	broad.mit.edu	37	12	64815126	64815126	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64815126C>T	uc001ssb.3	+	8	1461	c.955C>T	c.(955-957)Caa>Taa	p.Q319*	XPOT_uc009zqm.2_Nonsense_Mutation_p.Q229*	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	319	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TAAGAATGCTCAAGAGGCACT	0.343000														63			119		0	0	0.003610	0	0
CD63	967	broad.mit.edu	37	12	56120544	56120544	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120544C>T	uc001shn.3	-	4	551	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CD63_uc009znz.3_Silent_p.Q99Q|CD63_uc001sho.3_Silent_p.Q122Q	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	122					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AATTCTCCATCTGCTGCCGGA	0.537000														95			91		0	0	0.003610	0	0
WAPAL	23063	broad.mit.edu	37	10	88230843	88230843	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:88230843G>A	uc001kdn.3	-	8	2168	c.2159C>T	c.(2158-2160)aCt>aTt	p.T720I	WAPAL_uc009xsv.3_5'UTR|WAPAL_uc001kdo.3_Missense_Mutation_p.T683I|WAPAL_uc009xsw.3_Missense_Mutation_p.T677I	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	683	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGCACATTTAGTAGCCAAGCT	0.423000														17			21		0	0	0.004656	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783890	33783890	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:33783890C>T	uc002rox.3	+	17	2484	c.1857C>T	c.(1855-1857)gtC>gtT	p.V619V	RASGRP3_uc010ync.2_Silent_p.V619V|RASGRP3_uc002roy.3_Silent_p.V618V	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	619					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CTGAACCTGTCTGGTCAGAGG	0.547000														83			16		0	0	0.003163	0	0
abParts	0	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr15:22473063C>T	uc001yuj.2	-	6		c.265G>A								Parts of antibodies, mostly variable regions.																		TGATAGATTTCCCCAATCCAC	0.567000														134			48		0	0	0.003610	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258305	45258305	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:45258305G>A	uc003bfd.3	+	16	2039	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.E500K|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.E431K|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.E409K|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.E378K|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CGAGTACTATGAAAAGATCTT	0.602000														45			5		0	0	0.000602	0	0
MVP	9961	broad.mit.edu	37	16	29847108	29847108	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:29847108C>T	uc002dui.3	+	5	813	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.L221F|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	221					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCCGTCATCCTTACGGAAAA	0.577000														28			12		0	0	0.010729	0	0
UCKL1	54963	broad.mit.edu	37	20	62577061	62577061	+	Silent	SNP	A	C	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:62577061A>C	uc010gkn.3	-	4	672	c.597T>G	c.(595-597)ggT>ggG	p.G199G	UCKL1_uc011abm.2_Silent_p.G184G|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript|MIR647_uc021wgn.1_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	199					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGACGTTTGCACCATACAGTG	0.597000														116			27		0	0	0.007291	0	0
COBLL1	22837	broad.mit.edu	37	2	165578763	165578763	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:165578763G>A	uc002ucp.3	-	5	1040	c.818C>T	c.(817-819)tCc>tTc	p.S273F	COBLL1_uc002ucq.3_Missense_Mutation_p.S273F|COBLL1_uc010zcw.2_Missense_Mutation_p.S339F|COBLL1_uc010zcx.2_Missense_Mutation_p.S319F|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.S42F	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	311										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AATGGTATTGGACCTTGTAAA	0.478000														49			11		0	0	0.001855	0	0
CACNA1E	777	broad.mit.edu	37	1	181741229	181741229	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:181741229G>A	uc009wxt.3	+	36	5196	c.5001G>A	c.(4999-5001)gaG>gaA	p.E1667E	CACNA1E_uc001gow.3_Silent_p.E1667E|CACNA1E_uc009wxs.3_Silent_p.E1648E|CACNA1E_uc001gox.1_Silent_p.E893E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1667					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGGCAGGAGATTATGCTGT	0.567000														72			20		0	0	0.010504	0	0
OR2L13	284521	broad.mit.edu	37	1	248263456	248263456	+	Missense_Mutation	SNP	G	C	C	rs141876053	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:248263456G>C	uc001ids.3	+	2	1116	c.779G>C	c.(778-780)cGg>cCg	p.R260P	OR2L13_uc021pmc.1_Missense_Mutation_p.R260P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACCTATCTTCGGCCCAGGAAT	0.463000														70			11		0	0	0.010729	0	0
USH2A	7399	broad.mit.edu	37	1	215847712	215847712	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:215847712C>T	uc001hku.1	-	62	13928	c.13541G>A	c.(13540-13542)aGc>aAc	p.S4514N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4514	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCCCTTGGCTGTTGCTGGC	0.512000										HNSCC(13;0.011)				101			25		0	0	0.003330	0	0
FLT1	2321	broad.mit.edu	37	13	28959130	28959130	+	Missense_Mutation	SNP	G	A	A	rs115349395	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr13:28959130G>A	uc001usb.3	-	13	2293	c.2008C>T	c.(2008-2010)Cac>Tac	p.H670Y	FLT1_uc010aar.1_Missense_Mutation_p.H670Y	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	670	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCCACTGTGTGATCACTGAGG	0.438000														93			20		0	0	0.008871	0	0
PICK1	9463	broad.mit.edu	37	22	38461089	38461089	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:38461089C>T	uc003auq.3	+	3	624	c.234C>T	c.(232-234)atC>atT	p.I78I	PICK1_uc003aur.3_Silent_p.I78I|PICK1_uc003aus.3_Silent_p.I78I|PICK1_uc003aut.3_Silent_p.I78I	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	78	PDZ.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCAGGTCAATCAAAGGGAAAA	0.542000														42			13		0	0	0.001368	0	0
PODXL2	50512	broad.mit.edu	37	3	127379473	127379473	+	Missense_Mutation	SNP	C	T	T	rs114228905	byFrequency	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:127379473C>T	uc003ejq.2	+	2	626	c.602C>T	c.(601-603)cCt>cTt	p.P201L		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	201					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGCCAAGCCTCAGGTCCGT	0.577000														74			25		0	0	0.005443	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643999	20643999	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr15:20643999C>T	uc001ytg.3	-	22	3480	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.G924E					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCGATGCCTCCAACCACAGC	0.582000														54			8		0	0	0.004482	0	0
CD63	967	broad.mit.edu	37	12	56120694	56120694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120694C>T	uc001shn.3	-	3	495	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	CD63_uc009znz.3_Missense_Mutation_p.G81S|CD63_uc001sho.3_Missense_Mutation_p.G104S	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	104					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AACACATAGCCAGCAATGGCT	0.507000														139			185		0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55107662	55107662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:55107662C>T	uc002qgh.1	+	6	1149	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	LILRA1_uc010yfg.1_Missense_Mutation_p.R321C|LILRA1_uc010yfh.2_Missense_Mutation_p.R323C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	323					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGACAGTTCCGTGGCAGACC	0.602000														38			9		0	0	0.006214	0	0
GALNT9	50614	broad.mit.edu	37	12	132682405	132682405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:132682405G>A	uc001ukc.4	-	9	1713	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	GALNT9_uc009zyr.3_Missense_Mutation_p.R307C|GALNT9_uc001ukb.3_Missense_Mutation_p.R390C|GALNT9_uc001uka.3_Missense_Mutation_p.R167C	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	533	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GTGGGCATGCGGCCCGTGCCG	0.657000														9			7		0	0	0.001984	0	0
SAFB	6294	broad.mit.edu	37	19	5651068	5651068	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:5651068C>T	uc002mcg.3	+	8	1449	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	SAFB_uc002mcf.3_Silent_p.F426F|SAFB_uc002mce.4_Silent_p.F426F|SAFB_uc010xis.2_Silent_p.F357F|SAFB_uc010xit.2_Silent_p.F269F|SAFB_uc010xir.2_Silent_p.F426F|SAFB_uc010xiu.2_Silent_p.F225F	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	426	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGAATCTTTTCAGCAAATATG	0.428000														44			8		0	0	0.003080	0	0
PCDP1	200373	broad.mit.edu	37	2	120383201	120383201	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:120383201C>T	uc002tmb.3	+	15	1707	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PCDP1_uc010yyq.2_Missense_Mutation_p.R329C	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	485						cilium	calmodulin binding					Colorectal(110;0.196)					GAGTGCTGTTCGTGAAATGGA	0.403000														13			5		0	0	0.003080	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968079	102968079	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:102968079G>A	uc002tbu.1	+	10	1640	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	457	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCACAATAAGGAGTTTGCCTA	0.498000														58			6		0	0	0.001168	0	0
AMHR2	269	broad.mit.edu	37	12	53817752	53817752	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53817752C>T	uc001scx.2	+	0	114	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	AMHR2_uc009zmy.2_Missense_Mutation_p.P12S|AMHR2_uc021qyg.1_Missense_Mutation_p.P12S	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	12					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCATTACTTCCCACAGCTGT	0.562000														45			49		0	0	0.003610	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	C	C	rs145412486	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000														64			3		0	0	0.004672	0	0
OSBPL11	114885	broad.mit.edu	37	3	125279285	125279285	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:125279285C>T	uc003eic.3	-	7	1830	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	365					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTACGTTGTTCTTCTACAGCT	0.413000														85			16		0	0	0.004007	0	0
OR4A15	81328	broad.mit.edu	37	11	55135990	55135990	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:55135990C>T	uc010rif.2	+	0	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGATTTGTATCCCTTATTGAA	0.418000														75			34		0	0	0.002836	0	0
KRT6C	286887	broad.mit.edu	37	12	52864366	52864366	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:52864366T>C	uc001sal.4	-	5	1174	c.1126A>G	c.(1126-1128)Aac>Gac	p.N376D		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	376	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCTTGGTGTTGCGCAGGTCG	0.562000														47			13		0	0	0.002450	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120343836	120343836	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:120343836G>A	uc001pxl.2	+	31	3368	c.3033_splice	c.e31+1	p.R1011_splice	ARHGEF12_uc009zat.3_Splice_Site_p.R992_splice|ARHGEF12_uc010rzn.1_Splice_Site_p.R908_splice|ARHGEF12_uc009zau.1_Splice_Site_p.R908_splice	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1011					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGAGCTCAGGGTGAGAGATG	0.413000			T	MLL	AML									101			22		0	0	0.012319	0	0
CNNM1	26507	broad.mit.edu	37	10	101117306	101117306	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:101117306T>G	uc010qpi.2	+	1	1900	c.1611T>G	c.(1609-1611)aaT>aaG	p.N537K	CNNM1_uc009xwe.3_Missense_Mutation_p.N537K|CNNM1_uc001kpp.4_Missense_Mutation_p.N537K|CNNM1_uc009xwf.3_Missense_Mutation_p.N537K|CNNM1_uc009xwg.3_5'Flank	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	537	CBS 2.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGGTGAATAATGAGGGAGAAG	0.443000														25			4		0	0	0.009096	0	0
OR13G1	441933	broad.mit.edu	37	1	247836239	247836239	+	Silent	SNP	A	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:247836239A>G	uc001idi.1	-	0	105	c.105T>C	c.(103-105)gcT>gcC	p.A35A		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGCCGAGAAAAGCCACAAGAT	0.423000														41			3		0	0	0.004672	0	0
STT3B	201595	broad.mit.edu	37	3	31661322	31661322	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:31661322G>A	uc011axe.2	+	9	1327	c.1327_splice	c.e9+1	p.V443_splice	STT3B_uc003cer.1_Splice_Site_p.G443_splice|STT3B_uc010hft.1_Splice_Site	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	443					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AAGAGTATTTGGTAAGAGAGG	0.299000														46			3		0	0	0.004672	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														12			7		0	0	0.004482	0	0
XPOT	11260	broad.mit.edu	37	12	64814263	64814263	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64814263C>A	uc001ssb.3	+	7	1311	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K	XPOT_uc009zqm.2_Missense_Mutation_p.Q179K	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	269	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.C268S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATCTTTGTGTCAAGTATTACA	0.338000														51			51		1.17673e-23	1.28211e-23	0.003610	1	0
DSCAM	1826	broad.mit.edu	37	21	41711284	41711284	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:41711284C>T	uc002yyq.1	-	6	1721	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	423	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAAGGGAAACCGGCTCTGCTG	0.493000														27			14		0	0	0.001855	0	0
PHLDB2	90102	broad.mit.edu	37	3	111564751	111564751	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:111564751G>C	uc003dyc.3	+	1	308	c.36G>C	c.(34-36)aaG>aaC	p.K12N	PLCXD2_uc003dya.3_3'UTR|PLCXD2_uc003dxz.3_3'UTR	NM_001134437	NP_665696	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 3, mRNA.	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGTGCCCAAGGAAGATGGAG	0.438000														67			14		0	0	0.002450	0	0
AAAS	8086	broad.mit.edu	37	12	53702559	53702559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702559G>A	uc001scr.4	-	10	1200	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	AAAS_uc001scs.4_Missense_Mutation_p.T313I	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	346					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TCCCAATACAGTGAACAGCAG	0.527000														152			36		0	0	0.003610	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778121	56778121	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:56778121C>T	uc003jrm.3	-	0	516	c.414G>A	c.(412-414)caG>caA	p.Q138Q		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	138						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ACAGCACAGCCTGGATGGCGA	0.552000														25			35		0	0	0.012213	0	0
SLC44A5	204962	broad.mit.edu	37	1	75693533	75693533	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:75693533T>C	uc010oqz.1	-	11	1046	c.980A>G	c.(979-981)cAc>cGc	p.H327R	SLC44A5_uc001dgt.2_Missense_Mutation_p.H288R|SLC44A5_uc001dgs.2_Missense_Mutation_p.H246R|SLC44A5_uc001dgr.2_Missense_Mutation_p.H246R|SLC44A5_uc001dgu.3_Missense_Mutation_p.H288R|SLC44A5_uc010ora.2_Missense_Mutation_p.H282R|SLC44A5_uc010orb.2_Missense_Mutation_p.H158R	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	288						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTGGTAACAGTGCCATATTCC	0.338000														35			9		0	0	0.006214	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18131467	18131467	+	Silent	SNP	C	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr20:18131467C>A	uc021wbb.1	+	2	818	c.381C>A	c.(379-381)gtC>gtA	p.V127V	CSRP2BP_uc002wqk.3_5'UTR|CSRP2BP_uc010zru.2_5'UTR	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	127					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGTTTCAGGTCGTCATGTTGG	0.413000														134			49		1.67886e-27	1.83835e-27	0.003610	1	0
C1QTNF5	114902	broad.mit.edu	37	11	119216587	119216587	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:119216587C>T	uc010rzg.1	-	3	483	c.323G>A	c.(322-324)gGa>gAa	p.G108E	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	108					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ggtAAGGCCTCCGGCAGGCAG	0.672000														62			36		0	0	0.005524	0	0
CD63	967	broad.mit.edu	37	12	56121051	56121051	+	Missense_Mutation	SNP	C	T	T	rs144910349		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56121051C>T	uc001shn.3	-	2	324	c.139G>A	c.(139-141)Gct>Act	p.A47T	CD63_uc009znz.3_Missense_Mutation_p.A24T|CD63_uc001sho.3_Missense_Mutation_p.A47T	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	47					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCAGGGGTAGCCCCCTGGATT	0.577000														76			95		0	0	0.003610	0	0
AIRE	326	broad.mit.edu	37	21	45709622	45709622	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:45709622G>A	uc002zei.2	+	5	862	c.735G>A	c.(733-735)aaG>aaA	p.K245K	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	245	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGAAGAACAAGGCCCGCAGCA	0.652000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					71			15		0	0	0.003163	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180998	57180998	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:57180998C>T	uc003hbk.2	+	7	1721	c.1330C>T	c.(1330-1332)Cac>Tac	p.H444Y	KIAA1211_uc010iha.2_Missense_Mutation_p.H437Y|KIAA1211_uc011bzz.1_Missense_Mutation_p.H354Y|KIAA1211_uc003hbm.1_Missense_Mutation_p.H330Y	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	444	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ACAAAGAGAACACTCCGAGGA	0.612000														21			5		0	0	0.001984	0	0
GPR112	139378	broad.mit.edu	37	X	135427472	135427472	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chrX:135427472C>T	uc004ezu.1	+	5	1898	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	GPR112_uc010nsb.1_Missense_Mutation_p.S331F|GPR112_uc010nsc.1_Missense_Mutation_p.S303F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	536					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGATGTCTCTTTACCCAGA	0.433000														21			9		0	0	0.004482	0	0
AAAS	8086	broad.mit.edu	37	12	53703480	53703480	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53703480G>A	uc001scr.4	-	7	878	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	AAAS_uc001scs.4_Silent_p.L206L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	239					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGGTGAGACAGCACTTGGGCA	0.582000														37			28		0	0	0.012213	0	0
XPOT	11260	broad.mit.edu	37	12	64814155	64814155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64814155C>T	uc001ssb.3	+	7	1203	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	XPOT_uc009zqm.2_Missense_Mutation_p.H143Y	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	233	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCTGCTAGGTCATATGTCAAT	0.308000														45			59		0	0	0.003610	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562427	140562427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:140562427C>T	uc003liv.3	+	0	1448	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	98	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATGCGGTCCCACTGAGCCT	0.438000														12			25		0	0	0.002780	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865783	140865783	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:140865783C>G	uc003lky.2	+	0	1043	c.1043C>G	c.(1042-1044)cCt>cGt	p.P348R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.P348R	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	348	Cadherin 3.				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)			GACAATGCCCCTTACATCACA	0.542000														28			7		0	0	0.001984	0	0
AAAS	8086	broad.mit.edu	37	12	53703003	53703003	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53703003G>A	uc001scr.4	-	8	1036	c.873C>T	c.(871-873)acC>acT	p.T291T	AAAS_uc001scs.4_Silent_p.T258T	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	291					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGAGCAGGTTGGTCACCCCAC	0.577000														83			147		0	0	0.003610	0	0
ZNF160	90338	broad.mit.edu	37	19	53572226	53572226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:53572226G>A	uc010eqk.3	-	6	1977	c.1561C>T	c.(1561-1563)Cgt>Tgt	p.R521C	ZNF160_uc002qaq.4_Missense_Mutation_p.R521C|ZNF160_uc002qar.4_Missense_Mutation_p.R521C	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	521					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R521C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGACTTGAACGAACACTGAAG	0.398000														58			12		0	0	0.001368	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365337	128365337	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:128365337A>T	uc003kuy.3	+	9	2016	c.1620A>T	c.(1618-1620)aaA>aaT	p.K540N	SLC27A6_uc003kuz.3_Missense_Mutation_p.K540N	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	540					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATTTGGAAAAAGTTTATGAAC	0.294000														34			15		0	0	0.003163	0	0
CD63	967	broad.mit.edu	37	12	56120577	56120577	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120577C>T	uc001shn.3	-	4	518	c.333G>A	c.(331-333)gtG>gtA	p.V111V	CD63_uc009znz.3_Silent_p.V88V|CD63_uc001sho.3_Silent_p.V111V	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	111					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		p.V111A(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACTCTGACATCACCTGAGAGT	0.517000														105			126		0	0	0.003610	0	0
SLC6A6	6533	broad.mit.edu	37	3	14513784	14513784	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:14513784C>T	uc010heg.3	+	9	1467	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	SLC6A6_uc003byq.3_Missense_Mutation_p.L390F|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	390					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTGGTCCATTCTTTTTTTTAT	0.527000														47			20		0	0	0.003330	0	0
CD63	967	broad.mit.edu	37	12	56120979	56120979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120979C>T	uc001shn.3	-	2	396	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	CD63_uc009znz.3_Missense_Mutation_p.G48S|CD63_uc001sho.3_Missense_Mutation_p.G71S	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	71					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCGCAGCAGCCCACAAAAGCC	0.582000														84			93		0	0	0.003610	0	0
INHBB	3625	broad.mit.edu	37	2	121107115	121107115	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:121107115G>A	uc002tmn.2	+	1	935	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	297					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CCTGGAGTGCGATGGCCGGAC	0.622000														93			15		0	0	0.003163	0	0
ATP8A1	10396	broad.mit.edu	37	4	42505494	42505494	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:42505494C>T	uc003gwr.2	-	23	2356	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.M693I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	708					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTATAACAATCATTCCCATGT	0.274000														24			8		0	0	0.003080	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179321569	179321569	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:179321569C>T	uc003mlh.3	-	3	429	c.394G>A	c.(394-396)Gag>Aag	p.E132K	TBC1D9B_uc003mli.3_Missense_Mutation_p.E132K|TBC1D9B_uc003mlj.3_Missense_Mutation_p.E132K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	132						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding	p.E132K(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGGGTCCTCGTCTCCCTGG	0.572000														87			14		0	0	0.002450	0	0
PCDH15	65217	broad.mit.edu	37	10	55568842	55568842	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:55568842C>T	uc021pqw.1	-	35	5372	c.4977G>A	c.(4975-4977)agG>agA	p.R1659R	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.R1654R|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAATGTTTTTCCTTGCTTTTT	0.468000										HNSCC(58;0.16)				21			6		0	0	0.001168	0	0
ANPEP	290	broad.mit.edu	37	15	90342541	90342541	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr15:90342541G>A	uc002bop.4	-	13	2251	c.1959C>T	c.(1957-1959)atC>atT	p.I653I		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	653	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGATGACAGGGATGGCCTAGA	0.607000														41			7		0	0	0.001984	0	0
OR8B4	283162	broad.mit.edu	37	11	124294669	124294669	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:124294669C>T	uc010sak.2	-	0	99	c.99G>A	c.(97-99)ggG>ggA	p.G33G		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACACATAGATCCCTAAGAATA	0.453000														33			19		0	0	0.007413	0	0
OR11L1	391189	broad.mit.edu	37	1	248004723	248004723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:248004723G>A	uc001idn.1	-	0	476	c.476C>T	c.(475-477)cCt>cTt	p.P159L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L158M(1)|p.L158L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATCAGGGAAGGCAGAAAGCC	0.567000														94			21		0	0	0.010504	0	0
TMEM55A	55529	broad.mit.edu	37	8	92052894	92052894	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:92052894G>A	uc003yes.3	-	0	310	c.84C>T	c.(82-84)taC>taT	p.Y28Y		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	28						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TTTCTTGCAAGTACGGTGGGG	0.582000														61			13		0	0	0.003163	0	0
ZFP112	7771	broad.mit.edu	37	19	44891738	44891738	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:44891738A>C	uc010xxa.2	-	3	733	c.690T>G	c.(688-690)aaT>aaG	p.N230K	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.N223K	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CATGGGCCGCATTACGTTTTT	0.468000														64			17		0	0	0.004990	0	0
FN1	2335	broad.mit.edu	37	2	216239985	216239985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:216239985C>T	uc002vfa.3	-	37	6375	c.6109G>A	c.(6109-6111)Gaa>Aaa	p.E2037K	FN1_uc002vfc.3_Missense_Mutation_p.E1856K|FN1_uc002vfe.3_Missense_Mutation_p.E1946K|FN1_uc002vff.3_Missense_Mutation_p.E1946K|FN1_uc002vfg.3_Missense_Mutation_p.E1856K|FN1_uc002vfh.3_Missense_Mutation_p.E1856K|FN1_uc002vfi.3_Missense_Mutation_p.E2037K|FN1_uc002vfj.3_Missense_Mutation_p.E1947K|FN1_uc002vfb.3_Missense_Mutation_p.E1856K|FN1_uc002vez.3_Missense_Mutation_p.E231K|FN1_uc010zjp.2_Missense_Mutation_p.E574K|FN1_uc002vfk.1_Non-coding_Transcript|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript|FN1_uc010fvc.1_Missense_Mutation_p.E399K|FN1_uc010fvd.1_Missense_Mutation_p.E128K	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1946	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACCACTTCTCTGGGAGGA	0.542000														111			18		0	0	0.010504	0	0
AAAS	8086	broad.mit.edu	37	12	53703020	53703020	+	Nonsense_Mutation	SNP	G	A	A	rs145446970		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53703020G>A	uc001scr.4	-	8	1019	c.856C>T	c.(856-858)Cga>Tga	p.R286*	AAAS_uc001scs.4_Nonsense_Mutation_p.R253*	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	286					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCACCTCCTCGGAACCAGGGA	0.567000														63			108		0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104089541	104089541	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:104089541G>A	uc001tjw.3	+	32	3687	c.3501G>A	c.(3499-3501)gaG>gaA	p.E1167E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1167	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGCAATTGAGGCTGCCGATG	0.463000														38			15		0	0	0.004007	0	0
ZNF440	126070	broad.mit.edu	37	19	11943616	11943616	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:11943616C>T	uc002msp.1	+	3	1781	c.1625C>T	c.(1624-1626)cCt>cTt	p.P542L	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGAGAAACCCTATGAGTGTG	0.478000														44			10		0	0	0.001368	0	0
CRYAA	1409	broad.mit.edu	37	21	44592347	44592347	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:44592347C>T	uc002zdd.1	+	2	548	c.479C>T	c.(478-480)cCc>cTc	p.P160L		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	160					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CGAGCCATCCCCGTGTCGCGG	0.677000														27			19		0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196749359	196749359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:196749359C>T	uc002utj.4	-	34	5814	c.5713G>A	c.(5713-5715)Gtc>Atc	p.V1905I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1905					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAAATGGGACAGTTAGTGCC	0.408000														56			6		0	0	0.001168	0	0
KDR	3791	broad.mit.edu	37	4	55976877	55976877	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:55976877C>T	uc003has.3	-	7	1337	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	KDR_uc003hat.1_Silent_p.G345G|KDR_uc011bzx.2_Silent_p.G345G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	345	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGACACGCTCCCCCACCGTGG	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				82			20		0	0	0.002299	0	0
IFT122	55764	broad.mit.edu	37	3	129195589	129195589	+	Silent	SNP	C	T	T	rs71333615		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:129195589C>T	uc003eml.3	+	11	1451	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	IFT122_uc003emm.3_Silent_p.A364A|IFT122_uc003emn.3_Silent_p.A305A|IFT122_uc003emo.3_Silent_p.A253A|IFT122_uc003emp.3_Silent_p.A214A|IFT122_uc010htc.3_Silent_p.A356A|IFT122_uc011bky.2_Silent_p.A155A|IFT122_uc011bla.2_Silent_p.A155A|IFT122_uc003emr.3_Silent_p.A155A|IFT122_uc011bkx.1_Silent_p.A204A|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	364					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACCGCTATGCCTACAGGGATA	0.547000														54			37		0	0	0.004878	0	0
GPR98	84059	broad.mit.edu	37	5	90144467	90144467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:90144467G>A	uc003kju.3	+	78	17129	c.17033G>A	c.(17032-17034)gGa>gAa	p.G5678E	GPR98_uc003kjt.3_Missense_Mutation_p.G3384E|GPR98_uc003kjw.3_Missense_Mutation_p.G1339E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5678					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTACTGAAGGAAAAATTCAA	0.318000														2			3		0	0	0.004672	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938509	30938509	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:30938509C>T	uc009yjk.1	-	13	1773	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.Q227Q	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	199	Doublecortin 2.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GTGAAGTTTCCTGCCAGGCAT	0.418000														105			19		0	0	0.008871	0	0
CNOT4	4850	broad.mit.edu	37	7	135080388	135080388	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:135080388G>A	uc003vsv.2	-	8	1458	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	CNOT4_uc011kpy.2_Missense_Mutation_p.S376L|CNOT4_uc011kpz.2_Missense_Mutation_p.S373L|CNOT4_uc003vst.3_Missense_Mutation_p.S376L|CNOT4_uc003vss.3_Missense_Mutation_p.S373L|CNOT4_uc003vsu.2_Missense_Mutation_p.S373L	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	376					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTATATACCTGATGTGAAGAG	0.428000														133			23		0	0	0.004656	0	0
CTNND2	1501	broad.mit.edu	37	5	10973741	10973741	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:10973741C>T	uc003jfa.1	-	21	3647	c.3502G>A	c.(3502-3504)Gat>Aat	p.D1168N	CTNND2_uc010itt.2_Missense_Mutation_p.D1077N|CTNND2_uc011cmy.1_Missense_Mutation_p.D831N|CTNND2_uc011cmz.1_Missense_Mutation_p.D735N|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.D760N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1168					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AAGGACTCATCGTAATTTCTT	0.527000														60			15		0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71766327	71766327	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:71766327C>T	uc010fen.3	+	16	1675	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	DYSF_uc010fei.3_Silent_p.L511L|DYSF_uc010feh.3_Silent_p.L480L|DYSF_uc002sig.4_Silent_p.L480L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L511L|DYSF_uc010fee.3_Silent_p.L480L|DYSF_uc010fef.3_Silent_p.L511L|DYSF_uc002sie.3_Silent_p.L480L|DYSF_uc010feo.3_Silent_p.L512L|DYSF_uc010fej.3_Silent_p.L481L|DYSF_uc010fel.3_Silent_p.L481L|DYSF_uc010fem.3_Silent_p.L481L|DYSF_uc002sif.3_Silent_p.L481L|DYSF_uc010fek.3_Silent_p.L512L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	480						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACCACCTACCTGAGTATGTC	0.567000														72			16		0	0	0.004990	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220647	50220647	+	Silent	SNP	C	T	T	rs145957797		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:50220647C>T	uc003cyj.3	+	10	1245	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	SEMA3F_uc003cyk.3_Silent_p.D318D	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	349	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGACCCAGGACGTGAGGAACC	0.632000														72			9		0	0	0.010729	0	0
PCLO	27445	broad.mit.edu	37	7	82580214	82580214	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:82580214G>A	uc003uhx.2	-	5	9979	c.9690C>T	c.(9688-9690)cgC>cgT	p.R3230R	PCLO_uc003uhv.2_Silent_p.R3230R|PCLO_uc010lec.3_Silent_p.R195R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3161	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCAGCAAAGCGCTGTTGCT	0.438000														165			14		0	0	0.002450	0	0
CLCN3	1182	broad.mit.edu	37	4	170610305	170610305	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:170610305A>T	uc003ish.3	+	4	1089	c.530A>T	c.(529-531)aAt>aTt	p.N177I	CLCN3_uc003isi.3_Missense_Mutation_p.N177I|CLCN3_uc011cka.2_Missense_Mutation_p.N177I|CLCN3_uc011cjz.2_Missense_Mutation_p.N160I|CLCN3_uc003isj.2_Missense_Mutation_p.N150I	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	177					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGGGGATCTAATGAAACAACA	0.433000														45			25		0	0	0.003954	0	0
FAM168A	23201	broad.mit.edu	37	11	73141787	73141787	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:73141787G>A	uc001otz.1	-	2	378	c.99C>T	c.(97-99)gcC>gcT	p.A33A	FAM168A_uc009ytp.1_Silent_p.A33A|FAM168A_uc001oty.1_Silent_p.A33A	NM_015159	NP_055974	Q92567	F168A_HUMAN	Homo sapiens family with sequence similarity 168, member A (FAM168A), mRNA.	33										endometrium(3)|kidney(1)|lung(1)	5						TGTAGGCAGGGGCAGCTGCTG	0.463000														75			34		0	0	0.003271	0	0
CD63	967	broad.mit.edu	37	12	56120713	56120713	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120713C>T	uc001shn.3	-	3	476	c.291G>A	c.(289-291)gaG>gaA	p.E97E	CD63_uc009znz.3_Silent_p.E74E|CD63_uc001sho.3_Silent_p.E97E	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	97					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CTGCGGCCACCTCCACCAACA	0.517000														103			160		0	0	0.003610	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114872	73114873	+	Nonstop_Mutation	DNP	AA	TT	TT			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:73114872_73114873AA>TT	uc003dph.1	+	8	1323_1324	c.1253_1254AA>TT	c.(1252-1254)taa>tTT	p.*418F	PPP4R2_uc003dpi.1_Nonstop_Mutation_p.*361F	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	0					RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GAACAAGACTAACTATTTAGAA	0.342000														10			5		0	0	0.004672	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918965	144918965	+	Silent	SNP	T	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:144918965T>A	uc021ouh.1	-	9	1523	c.1221A>T	c.(1219-1221)ctA>ctT	p.L407L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L407L|PDE4DIP_uc001elx.4_Silent_p.L473L|PDE4DIP_uc001emd.2_Silent_p.L407L|PDE4DIP_uc001emc.2_Silent_p.L407L|PDE4DIP_uc001emb.1_Silent_p.L570L|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	407					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATTCTTCTTGTAGCTGCTGCA	0.388000			T	PDGFRB	MPD									410			75		0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166978335	166978335	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:166978335G>A	uc003irh.2	+	14	2368	c.1721_splice	c.e14-1	p.E574_splice	TLL1_uc011cjn.2_Splice_Site_p.E597_splice|TLL1_uc011cjo.2_Splice_Site_p.E398_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	574	CUB 2.|EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATTTTCATAGAGGAAGATGA	0.458000														62			14		0	0	0.002450	0	0
MYH15	22989	broad.mit.edu	37	3	108183645	108183645	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:108183645G>A	uc003dxa.1	-	15	1688	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	544	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCAAGGATGGAAAGGATGCC	0.428000														64			11		0	0	0.002450	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143790	55143790	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:55143790C>T	uc002lgo.3	+	1	1382	c.1350C>T	c.(1348-1350)cgC>cgT	p.R450R		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	450					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGAACAAACGCCCGTCAAAGG	0.552000														57			11		0	0	0.001368	0	0
DNAJC12	56521	broad.mit.edu	37	10	69556939	69556939	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr10:69556939G>A	uc001jnb.3	-	4	700	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C		NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	178					protein folding		heat shock protein binding|unfolded protein binding	p.R178C(2)		breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CAGCGGAAACGAAGGTGCCAA	0.373000														7			5		0	0	0.001168	0	0
AMDHD1	144193	broad.mit.edu	37	12	96360259	96360259	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:96360259G>A	uc001tel.2	+	7	1272	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	AMDHD1_uc009zth.2_Missense_Mutation_p.G280E	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	389					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	p.Q388H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGCAAACAGGGAGATCTCATT	0.473000														101			136		0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38927621	38927621	+	Nonsense_Mutation	SNP	G	A	A	rs145290679		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:38927621G>A	uc021wvy.1	-	15	3143	c.2944C>T	c.(2944-2946)Cga>Tga	p.R982*	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	982					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATTACCTTTCGGGGATCCTGT	0.448000														41			19		0	0	0.007413	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109106	101109106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:101109106G>A	uc003hvq.3	-	2	555	c.310C>T	c.(310-312)Cga>Tga	p.R104*		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	Homo sapiens DNA-damage-inducible transcript 4-like (DDIT4L), mRNA.	104					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		ACACAACCTCGCAAGCCGCAG	0.458000														41			12		0	0	0.010729	0	0
HSPG2	3339	broad.mit.edu	37	1	22211071	22211071	+	Missense_Mutation	SNP	C	T	T	rs142248704		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:22211071C>T	uc009vqd.3	-	12	1647	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	HSPG2_uc001bfj.3_Missense_Mutation_p.R535H	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	535					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCCCGGAAGCGGCGGGTGCT	0.677000														75			31		0	0	0.010818	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310275	178310275	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:178310275A>T	uc003mjl.3	+	4	1048	c.822A>T	c.(820-822)gaA>gaT	p.E274D	ZNF354B_uc003mjm.3_Missense_Mutation_p.E274D	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATGTAAAGAATGTGGGAAAG	0.353000														53			20		0	0	0.008871	0	0
CD63	967	broad.mit.edu	37	12	56120975	56120975	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56120975C>T	uc001shn.3	-	2	400	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	CD63_uc009znz.3_Missense_Mutation_p.C49Y|CD63_uc001sho.3_Missense_Mutation_p.C72Y	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	72					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GGCCCCGCAGCAGCCCACAAA	0.592000														84			95		0	0	0.003610	0	0
XPOT	11260	broad.mit.edu	37	12	64815234	64815234	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:64815234C>G	uc001ssb.3	+	8	1569	c.1063C>G	c.(1063-1065)Ctt>Gtt	p.L355V	XPOT_uc009zqm.2_Missense_Mutation_p.L265V	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	355	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTACGATTATCTTCATATTTT	0.289000														43			75		0	0	0.003610	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065863	247065863	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:247065863G>A	uc001ibv.2	-	7	1205	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	361	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.G369D(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCATGAGATCGAAATTTCTCT	0.418000														97			25		0	0	0.003330	0	0
ADAM28	10863	broad.mit.edu	37	8	24207459	24207459	+	Silent	SNP	C	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:24207459C>A	uc003xdy.3	+	18	2156	c.2073C>A	c.(2071-2073)tcC>tcA	p.S691S	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S378S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	691					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACCAGAGCTCCAGAGAAAAGC	0.443000														135			28		2.14196e-07	2.28823e-07	0.007291	1	0
CFH	3075	broad.mit.edu	37	1	196716257	196716257	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:196716257C>T	uc001gtj.4	+	21	3750	c.3510C>T	c.(3508-3510)tcC>tcT	p.S1170S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1170	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGTAATATCCCGAGAAATTA	0.323000														53			7		0	0	0.006214	0	0
PRKRA	8575	broad.mit.edu	37	2	179296927	179296927	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:179296927G>A	uc002umf.3	-	7	1040	c.839C>T	c.(838-840)cCc>cTc	p.P280L	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.P112L|PRKRA_uc002umd.3_Missense_Mutation_p.P255L|PRKRA_uc002ume.3_Missense_Mutation_p.P269L|PRKRA_uc002umg.3_Missense_Mutation_p.P167L|BX538254_uc002umb.1_Intron|PRKRA_uc002umh.1_Non-coding_Transcript	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	280	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			GACTGTGATGGGGCTGGTGGA	0.423000														58			7		0	0	0.003080	0	0
UGT1A1	54658	broad.mit.edu	37	2	234681041	234681041	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:234681041G>A	uc002vuw.3	+	4	1441	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	UGT1A1_uc002vup.3_Missense_Mutation_p.D477N|UGT1A1_uc002vur.3_Missense_Mutation_p.D477N|UGT1A1_uc002vus.3_Missense_Mutation_p.D477N|UGT1A1_uc002vut.3_Missense_Mutation_p.D477N|UGT1A1_uc002vuu.3_Missense_Mutation_p.D212N|UGT1A1_uc002vuv.4_Missense_Mutation_p.D479N|UGT1A1_uc002vux.3_Missense_Mutation_p.D481N|UGT1A1_uc002vuy.3_Missense_Mutation_p.D481N|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Missense_Mutation_p.D480N	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	480					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CGCAGCCCACGACCTCACCTG	0.597000														104			18		0	0	0.008871	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299402	117299402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:117299402C>T	uc001prh.1	-	32	5986	c.5984G>A	c.(5983-5985)cGa>cAa	p.R1995Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1935	Pro-rich.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGTAGGTTCGAGCCAGGTT	0.677000														22			7		0	0	0.001984	0	0
DSG4	147409	broad.mit.edu	37	18	28992864	28992864	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:28992864G>A	uc002kwr.2	+	14	2621	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	DSG4_uc002kwq.2_Missense_Mutation_p.G810E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	810					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACCACGAGGGAGTCGGGTCT	0.413000														51			34		0	0	0.003755	0	0
GRIK5	2901	broad.mit.edu	37	19	42507520	42507520	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:42507520G>A	uc002osj.1	-	17	2513	c.2478C>T	c.(2476-2478)ttC>ttT	p.F826F	GRIK5_uc002osi.1_Silent_p.F398F	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	826						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGGACCATATGAATTCCATGA	0.592000														60			10		0	0	0.006214	0	0
ABCA17P	650655	broad.mit.edu	37	16	2474682	2474682	+	RNA	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:2474682G>A	uc002cqc.1	+	14		c.2851G>A								Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene (ABCA17P), non-coding RNA.																		TTCAGCAGTGGCTACTCCCTG	0.647000														18			5		0	0	0.000602	0	0
CNTN6	27255	broad.mit.edu	37	3	1427434	1427434	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:1427434G>T	uc003boz.3	+	19	2924	c.2657G>T	c.(2656-2658)gGg>gTg	p.G886V	CNTN6_uc011asj.2_Missense_Mutation_p.G814V|CNTN6_uc003bpa.3_Missense_Mutation_p.G886V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	886	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACACTGCTGGGACAGGGCCC	0.448000														128			18		3.51602e-12	3.79314e-12	0.008871	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68282659	68282659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr14:68282659C>T	uc001xka.2	-	1	161	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.E8K|ZFYVE26_uc010tta.2_Missense_Mutation_p.E8K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	8					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAGCTTCCTCTTTTCCAAAT	0.478000														22			5		0	0	0.000602	0	0
AAAS	8086	broad.mit.edu	37	12	53702566	53702566	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702566G>A	uc001scr.4	-	10	1193	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	AAAS_uc001scs.4_Silent_p.L311L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	344					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGTGAACAGCAGTCGGCTG	0.522000														146			33		0	0	0.003610	0	0
MBD5	55777	broad.mit.edu	37	2	149227601	149227601	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:149227601C>T	uc002twm.4	+	8	3086	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.P138S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	697						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGGTTCATTTCCCATCAGTTC	0.458000														39			27		0	0	0.005443	0	0
EIF4G3	8672	broad.mit.edu	37	1	21155695	21155695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:21155695C>T	uc001bec.3	-	25	4220	c.3964G>A	c.(3964-3966)Gaa>Aaa	p.E1322K	EIF4G3_uc010odi.2_Missense_Mutation_p.E926K|EIF4G3_uc010odj.2_Missense_Mutation_p.E1321K|EIF4G3_uc009vpz.3_Missense_Mutation_p.E1042K|EIF4G3_uc001bef.3_Missense_Mutation_p.E1358K|EIF4G3_uc001bee.3_Missense_Mutation_p.E1328K	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1322	MI.				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCACCAGTTCAGCAAGGTAC	0.388000														62			12		0	0	0.003163	0	0
HEPH	9843	broad.mit.edu	37	X	65423391	65423391	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chrX:65423391G>A	uc011moz.2	+	12	2562	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	HEPH_uc004dwn.3_Missense_Mutation_p.E758K|HEPH_uc004dwo.3_Missense_Mutation_p.E488K|HEPH_uc010nkr.3_Missense_Mutation_p.E566K|HEPH_uc011mpa.2_Missense_Mutation_p.E758K|HEPH_uc010nks.3_Missense_Mutation_p.E47K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	755	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGGAACGGGAATGGCACAA	0.458000														7			15		0	0	0.004007	0	0
HOXB3	3213	broad.mit.edu	37	17	46629400	46629400	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr17:46629400G>A	uc002inn.3	-	0	837	c.437C>T	c.(436-438)tCc>tTc	p.S146F	HOXB3_uc010wlm.2_Missense_Mutation_p.S73F|HOXB3_uc010dbf.3_Missense_Mutation_p.S146F|HOXB3_uc010dbg.3_Missense_Mutation_p.S146F|HOXB3_uc002ino.3_Missense_Mutation_p.S146F|HOXB3_uc010wlk.2_Missense_Mutation_p.S14F|HOXB3_uc010wll.2_Missense_Mutation_p.S73F	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	146					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGTGCCGGGGGAGTTGTTTTT	0.572000														225			70		0	0	0.003610	0	0
HUNK	30811	broad.mit.edu	37	21	33331183	33331183	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:33331183G>A	uc002yph.3	+	4	1135	c.775G>A	c.(775-777)Ggg>Agg	p.G259R		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	259	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATGTTGACCGGGACGCTGCC	0.552000														131			20		0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9070546	9070546	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:9070546G>T	uc002mkp.3	-	2	17104	c.16900C>A	c.(16900-16902)Ctg>Atg	p.L5634M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5636	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGACATCAGGGAAAACCCA	0.522000														34			6		3.59834e-05	3.78863e-05	0.001168	1	0
DSP	1832	broad.mit.edu	37	6	7568801	7568801	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:7568801C>T	uc003mxp.1	+	10	1677	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	DSP_uc003mxq.1_Silent_p.L466L|DSP_uc021yle.1_Silent_p.L466L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	466	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGAGCTCTCTGTGACTACA	0.383000														40			14		0	0	0.004990	0	0
CD63	967	broad.mit.edu	37	12	56121119	56121119	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:56121119C>T	uc001shn.3	-	2	256	c.71G>A	c.(70-72)tGt>tAt	p.C24Y	CD63_uc009znz.3_Intron|CD63_uc001sho.3_Missense_Mutation_p.C24Y	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	24					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						TCCCACTGCACAGGCCTAAGA	0.577000														58			59		0	0	0.003610	0	0
KCNH2	3757	broad.mit.edu	37	7	150674991	150674991	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:150674991C>T	uc003wic.3	-	0	412	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	KCNH2_uc003wie.3_Missense_Mutation_p.R4Q	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	4					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGGCCCCTCCGCACCGGCAT	0.756000														93			6		0	0	0.003080	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37349786	37349786	+	Silent	SNP	T	C	C			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:37349786T>C	uc010ynh.2	-	11	1487	c.930A>G	c.(928-930)aaA>aaG	p.K310K	EIF2AK2_uc010fab.2_Silent_p.K269K|EIF2AK2_uc010yng.2_Silent_p.K310K|EIF2AK2_uc010fac.3_Silent_p.K310K|EIF2AK2_uc010fad.2_Intron	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	310	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	p.V309L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTGCCAATGCTTTTACTTCAC	0.413000														60			3		0	0	0.004672	0	0
NVL	4931	broad.mit.edu	37	1	224418997	224418997	+	Splice_Site	SNP	A	C	C	rs148643272		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:224418997A>C	uc001hok.3	-	22	2518	c.2456_splice	c.e22-1	p.G819_splice	NVL_uc001hol.3_Splice_Site_p.G713_splice|NVL_uc010pvd.2_Splice_Site_p.G728_splice|NVL_uc010pve.2_Splice_Site_p.G630_splice	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	819						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CCTTGAGTTCACCTATGGAGT	0.343000														39			8		0	0	0.004482	0	0
AAAS	8086	broad.mit.edu	37	12	53702545	53702545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702545G>A	uc001scr.4	-	10	1214	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	AAAS_uc001scs.4_Missense_Mutation_p.P318S	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	351					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		p.P351L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TAAATCAGTGGCTCTCCCAAT	0.517000														156			64		0	0	0.003610	0	0
RNF165	494470	broad.mit.edu	37	18	44013175	44013175	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:44013175G>A	uc002lcb.1	+	1	135	c.84G>A	c.(82-84)caG>caA	p.Q28Q	RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	28							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AAAGGTCTCAGCATCCTCACG	0.682000														18			6		0	0	0.003080	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812881	45812881	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:45812881C>T	uc011bai.2	-	5	887	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.G218S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	255					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCCGAAGCCCAGGCCAAGT	0.572000														48			28		0	0	0.004656	0	0
C2orf71	388939	broad.mit.edu	37	2	29296513	29296513	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:29296513G>A	uc002rmt.2	-	0	615	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	205					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGCCTGATGGATGATGCACA	0.562000														73			16		0	0	0.004007	0	0
FLG	2312	broad.mit.edu	37	1	152280838	152280838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:152280838C>T	uc001ezu.1	-	2	6560	c.6524G>A	c.(6523-6525)gGa>gAa	p.G2175E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2175	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2175*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGATGT	0.562000									Ichthyosis					231			147		0	0	0.003610	0	0
PMFBP1	83449	broad.mit.edu	37	16	72159913	72159913	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr16:72159913C>T	uc002fcc.4	-	14	2394	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q	PMFBP1_uc002fcd.3_Missense_Mutation_p.R736Q|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.R591Q|PMFBP1_uc010cgo.1_Missense_Mutation_p.R32Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	741										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGCTGACTTCCGGGATAATGC	0.542000														161			41		0	0	0.010771	0	0
PTH2R	5746	broad.mit.edu	37	2	209302496	209302496	+	Nonsense_Mutation	SNP	C	T	T	rs144936061		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:209302496C>T	uc010zjb.2	+	3	620	c.334C>T	c.(334-336)Cga>Tga	p.R112*	PTH2R_uc002vdb.3_Nonsense_Mutation_p.R101*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	101						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGTTGCTTTCCGACACTGTAA	0.383000														41			4		0	0	0.000602	0	0
CRTAM	56253	broad.mit.edu	37	11	122726544	122726544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:122726544C>T	uc001pyj.3	+	4	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	211					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTAGTAGCACCCTTCCGGTTT	0.368000														28			7		0	0	0.001984	0	0
SCN3A	6328	broad.mit.edu	37	2	165954028	165954028	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:165954028C>T	uc002ucx.3	-	22	4465	c.3973G>A	c.(3973-3975)Gtg>Atg	p.V1325M	SCN3A_uc002ucy.3_Missense_Mutation_p.V1276M|SCN3A_uc002ucz.3_Missense_Mutation_p.V1276M|SCN3A_uc002uda.1_Missense_Mutation_p.V1145M|SCN3A_uc002udb.1_Missense_Mutation_p.V1145M	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1325						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGAGCATTCACAACCACCTAG	0.393000														41			5		0	0	0.000602	0	0
FLG2	388698	broad.mit.edu	37	1	152325251	152325251	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:152325251C>T	uc001ezw.4	-	2	5084	c.5011G>A	c.(5011-5013)Gga>Aga	p.G1671R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1671							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGTGTCCTGTATGTGTG	0.502000														251			54		0	0	0.003610	0	0
PHACTR2	9749	broad.mit.edu	37	6	144095218	144095218	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:144095218C>T	uc010khi.3	+	7	1654	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	PHACTR2_uc003qjq.4_Silent_p.R474R|PHACTR2_uc010khh.3_Silent_p.R394R|PHACTR2_uc003qjr.4_Silent_p.R405R	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	474							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GTAAAATACGCCGGAGGGATA	0.458000														18			8		0	0	0.003080	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984830	62984830	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr11:62984830C>G	uc001nwr.1	-	3	786	c.786G>C	c.(784-786)caG>caC	p.Q262H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.Q262H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	262					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACATCACCAACTGGAGGATGC	0.443000														38			10		0	0	0.008291	0	0
CBX7	23492	broad.mit.edu	37	22	39530023	39530023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:39530023G>A	uc003axb.3	-	5	718	c.629C>T	c.(628-630)cCc>cTc	p.P210L	CBX7_uc003axc.3_Missense_Mutation_p.P117L	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	210					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					AGGTGTCCAGGGAGGGGGCCC	0.657000														104			22		0	0	0.002780	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900390	75900390	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr13:75900390C>T	uc001vjl.1	-	9	2323	c.1976G>A	c.(1975-1977)gGg>gAg	p.G659E	TBC1D4_uc010aer.2_Missense_Mutation_p.G659E|TBC1D4_uc010aes.2_Missense_Mutation_p.G659E	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	659						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGAGCCCTCCCATCCTGCAA	0.557000														45			8		0	0	0.004482	0	0
LAMA1	284217	broad.mit.edu	37	18	7013995	7013995	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr18:7013995C>T	uc002knm.3	-	22	3276	c.3182G>A	c.(3181-3183)gGc>gAc	p.G1061D	LAMA1_uc010wzj.2_Missense_Mutation_p.G537D	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1061	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCAATGGCCGGTGACCAC	0.522000														14			14		0	0	0.002450	0	0
ZEB2	9839	broad.mit.edu	37	2	145161624	145161624	+	Silent	SNP	G	A	A	rs146662449		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:145161624G>A	uc002tvu.3	-	5	1188	c.666C>T	c.(664-666)cgC>cgT	p.R222R	ZEB2_uc010zbm.2_Silent_p.R198R|ZEB2_uc002tvv.3_Silent_p.R216R|ZEB2_uc010fnp.3_Silent_p.R130R|ZEB2_uc010fnq.1_Silent_p.R251R	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	222						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGATGTCAAGCGCTTGTAGC	0.557000														90			23		0	0	0.002780	0	0
LILRB2	10288	broad.mit.edu	37	19	54783715	54783715	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr19:54783715A>G	uc002qfb.3	-	3	552	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.Y96H|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.Y96H|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	96	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.R95*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGACAGCCATATCGCCCTGTG	0.557000														111			26		0	0	0.003954	0	0
CSMD1	64478	broad.mit.edu	37	8	3611459	3611459	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr8:3611459C>T	uc022aqr.1	-	5	1314	c.924G>A	c.(922-924)caG>caA	p.Q308Q		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	308	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCTTGGAACTGAGCGTTAA	0.403000														44			6		0	0	0.003080	0	0
ZNF79	7633	broad.mit.edu	37	9	130187080	130187080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr9:130187080G>A	uc004bqw.4	+	0	428	c.14G>A	c.(13-15)gGa>gAa	p.G5E	ZNF79_uc011maf.2_5'UTR|ZNF79_uc011mag.2_5'UTR	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGAGGAAGGAGGTGAGGAG	0.592000														12			18		0	0	0.004990	0	0
CERKL	375298	broad.mit.edu	37	2	182423332	182423332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:182423332G>A	uc002unx.3	-	5	960	c.859C>T	c.(859-861)Cct>Tct	p.P287S	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.P261S|CERKL_uc010zfm.2_Missense_Mutation_p.P243S|CERKL_uc002unz.3_Missense_Mutation_p.P9S|CERKL_uc002uoa.3_Intron|CERKL_uc002uob.3_Missense_Mutation_p.P9S|CERKL_uc002uoc.3_Intron|CERKL_uc021vth.1_Missense_Mutation_p.P56S|CERKL_uc021vti.1_Missense_Mutation_p.P9S|CERKL_uc021vtj.1_Intron|CERKL_uc021vtk.1_Missense_Mutation_p.P9S|CERKL_uc021vtl.1_Intron|CERKL_uc021vtm.1_Missense_Mutation_p.P56S|CERKL_uc002uod.2_Missense_Mutation_p.P56S|CERKL_uc002uoe.3_Missense_Mutation_p.P261S	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	287	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCTCTGACAGGAGTCAGGATT	0.488000														70			14		0	0	0.003163	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	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					26			96		0	0	0.003610	0	0
AMHR2	269	broad.mit.edu	37	12	53818187	53818187	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53818187C>T	uc001scx.2	+	1	245	c.165C>T	c.(163-165)tgC>tgT	p.C55C	AMHR2_uc009zmy.2_Silent_p.C55C|AMHR2_uc021qyg.1_Silent_p.C55C	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	55					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CTATCCGCTGCCTCTACAGCC	0.562000														26			41		0	0	0.005524	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:41414529C>T	uc002yyq.1	-	31	5907	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1819					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGCGTGTTCGTAGGCCCTG	0.527000														60			28		0	0	0.006320	0	0
VAT1	10493	broad.mit.edu	37	17	41168515	41168515	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr17:41168515G>A	uc002icm.1	-	4	1027	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	VAT1_uc010cyw.1_Missense_Mutation_p.R169W|VAT1_uc010whk.1_Missense_Mutation_p.R235W	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	303						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCATGTCCGGGCCAGGGCC	0.617000														19			8		0	0	0.003080	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937654	34937654	+	Missense_Mutation	SNP	G	A	A	rs140595082		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:34937654G>A	uc003jjb.3	+	4	889	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	DNAJC21_uc003jjc.3_Missense_Mutation_p.R221Q|DNAJC21_uc010iuu.1_Missense_Mutation_p.R105Q	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	221					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAGGCGCATCGAAAACTTGTG	0.493000														75			21		0	0	0.010504	0	0
CNTN4	152330	broad.mit.edu	37	3	2944657	2944657	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:2944657T>G	uc003bpc.3	+	11	1514	c.1175T>G	c.(1174-1176)gTt>gGt	p.V392G	CNTN4_uc003bpb.1_Missense_Mutation_p.V64G|CNTN4_uc021wsg.1_Missense_Mutation_p.V392G|CNTN4_uc003bpd.1_Missense_Mutation_p.V392G|CNTN4_uc003bpe.3_Missense_Mutation_p.V64G|CNTN4_uc003bpf.3_Missense_Mutation_p.V64G	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	392	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAACATGGAGTTATCTTTTCC	0.353000														31			3		0	0	0.004672	0	0
LIFR	3977	broad.mit.edu	37	5	38506127	38506127	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr5:38506127C>T	uc010ive.1	-	8	1503	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	LIFR_uc003jli.2_Missense_Mutation_p.E391K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	391	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.E391K(3)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGATAGCTTTCGTTTGTAGGT	0.289000			T	PLAG1	salivary adenoma									52			14		0	0	0.002450	0	0
SLIT2	9353	broad.mit.edu	37	4	20599919	20599919	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:20599919T>G	uc003gpr.1	+	32	3797	c.3593T>G	c.(3592-3594)cTg>cGg	p.L1198R	SLIT2_uc003gps.1_Missense_Mutation_p.L1190R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1198	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGAATCCTCCTGTATAAGGGT	0.483000														107			22		0	0	0.003330	0	0
PIGG	54872	broad.mit.edu	37	4	517460	517460	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr4:517460C>T	uc003gak.4	+	8	1963	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	PIGG_uc003gaj.4_Silent_p.L601L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L476L|PIGG_uc003gal.4_Silent_p.L520L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	609					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTGTGGCCTCTGTGTGGAAC	0.582000														81			20		0	0	0.007413	0	0
DEFB114	245928	broad.mit.edu	37	6	49928114	49928114	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr6:49928114C>T	uc011dwp.2	-	1	101	c.101G>A	c.(100-102)gGt>gAt	p.G34D		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	34					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTTACAACGACCGTAACGTTT	0.353000														22			8		0	0	0.004482	0	0
VSIG10	54621	broad.mit.edu	37	12	118533516	118533516	+	Silent	SNP	C	T	T	rs117781232	by1000genomes	TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:118533516C>T	uc001tws.3	-	1	517	c.183G>A	c.(181-183)tcG>tcA	p.S61S		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	61	Ig-like C2-type 1.					integral to membrane		p.S61S(2)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						AGACAGGCTCCGAGTTGTTCC	0.562000														14			6		0	0	0.001168	0	0
TRANK1	9881	broad.mit.edu	37	3	36893670	36893670	+	Silent	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:36893670C>T	uc003cgj.3	-	12	4832	c.4584G>A	c.(4582-4584)agG>agA	p.R1528R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1528					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGAGTTTTCCTTTTATTCC	0.428000														29			9		0	0	0.006214	0	0
AAAS	8086	broad.mit.edu	37	12	53702561	53702561	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr12:53702561G>A	uc001scr.4	-	10	1198	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	AAAS_uc001scs.4_Silent_p.F312F	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	345					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCAATACAGTGAACAGCAGTC	0.527000														152			32		0	0	0.003610	0	0
GNB1L	54584	broad.mit.edu	37	22	19808195	19808195	+	Silent	SNP	A	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr22:19808195A>T	uc002zqf.1	-	3	417	c.180T>A	c.(178-180)gtT>gtA	p.V60V		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	60					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CCAGGGTGGTAACCGCTCTCC	0.657000														45			11		0	0	0.001368	0	0
TMEM108	66000	broad.mit.edu	37	3	133099274	133099274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:133099274C>T	uc003epi.3	+	3	989	c.719C>T	c.(718-720)cCa>cTa	p.P240L	TMEM108_uc003eph.3_Missense_Mutation_p.P240L|TMEM108_uc003epj.1_Missense_Mutation_p.P240L|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	240						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCAGGACCCCACTCTGGGGC	0.627000														25			22		0	0	0.010504	0	0
PROS1	5627	broad.mit.edu	37	3	93615438	93615438	+	Missense_Mutation	SNP	C	T	T	rs5003033		TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr3:93615438C>T	uc003drb.4	-	8	1288	c.947G>A	c.(946-948)cGt>cAt	p.R316H	PROS1_uc010hoo.3_Missense_Mutation_p.R185H|PROS1_uc003dqz.4_Missense_Mutation_p.R185H	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCTGGCAAACGAAATTTTAA	0.403000														69			11		0	0	0.001368	0	0
FLG	2312	broad.mit.edu	37	1	152281092	152281092	+	Silent	SNP	G	A	A			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr1:152281092G>A	uc001ezu.1	-	2	6306	c.6270C>T	c.(6268-6270)ttC>ttT	p.F2090F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2090	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGTAGAGGAAAGACCCTG	0.562000									Ichthyosis					148			37		0	0	0.004878	0	0
TCF7L1	83439	broad.mit.edu	37	2	85533394	85533394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:85533394C>T	uc002soy.3	+	8	1280	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	352					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCTCTGAATGCCTTCATGTTG	0.498000														50			12		0	0	0.010729	0	0
NMI	9111	broad.mit.edu	37	2	152127301	152127301	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr2:152127301delT	uc002txi.2	-	7	1160	c.830delA	c.(829-831)aacfs	p.N277fs		NM_004688	NP_004679	Q13287	NMI_HUMAN	Homo sapiens N-myc (and STAT) interactor (NMI), mRNA.	277					JAK-STAT cascade|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AAAGTGAATGTTAATTAAATC	0.383													---	52	---	---	27	---					
RNF148	378925	broad.mit.edu	37	7	122342533	122342542	+	Frame_Shift_Del	DEL	TTGGTCAAAG	-	-			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr7:122342533_122342542delTTGGTCAAAG	uc003vkk.1	-	0	480_489	c.263_272delCTTTGACCAA	c.(262-273)cctttgaccaatfs	p.P88fs	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	88	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CCTGCTGAAATTGGTCAAAGGATGACAGGC	0.505													---	75	---	---	14	---					
RBM11	54033	broad.mit.edu	37	21	15599592	15599593	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chr21:15599592_15599593insT	uc002yjo.4	+	4	866_867	c.824_825insT	c.(823-825)tctfs	p.S275fs	RBM11_uc002yjn.4_Frame_Shift_Ins_p.S161fs|RBM11_uc002yjp.4_Frame_Shift_Ins_p.S161fs	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	275							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTCCGAAAGTCTAAGAAGAAGA	0.327													---	79	---	---	15	---					
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A3C1-06A-12D-A196-08	TCGA-D3-A3C1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aae337d1-38c3-4763-8e43-c68c28e659f2	840b6b8b-631d-4bd1-bb06-a95e335641dc	g.chrX:135961585_135961586insT	uc004fae.2	-	1	211_212	c.1_2insA	c.(1-3)atgfs	p.M1fs	RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	1						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													---	53	---	---	8	---