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
OR2B11	127623	broad.mit.edu	37	1	247614472	247614472	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:247614472G>A	uc010pyx.2	-	0	813	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCTCTTGGGAGTAGCTGG	0.493000														73			45		0	0	0.000781405	0	0
NR1D2	9975	broad.mit.edu	37	3	23996194	23996194	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:23996194C>T	uc003ccs.2	+	1	502	c.183C>T	c.(181-183)gcC>gcT	p.A61A	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	61					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GTGATCTCGCCAATATTGAAG	0.403000														50			17		0	0	0.000566183	0	0
RSPO4	343637	broad.mit.edu	37	20	947950	947950	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:947950C>T	uc002wej.3	-	2	376	c.276G>A	c.(274-276)ggG>ggA	p.G92G	RSPO4_uc002wek.3_Silent_p.G92G	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	92					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CACAAGTGGCCCCACATTCTG	0.612000														59			11		0	0	0.000978159	0	0
MECOM	2122	broad.mit.edu	37	3	168825738	168825738	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:168825738G>A	uc011bpj.1	-	9	2983	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	MECOM_uc010hwk.1_Intron|MECOM_uc003ffj.3_Silent_p.F737F|MECOM_uc003ffi.3_Silent_p.F672F|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Silent_p.F672F|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpk.1_Silent_p.F672F|MECOM_uc010hwn.2_Intron	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGGCAGTTGGAACTGGGAGC	0.308000														64			11		0	0	0.000308642	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562599	145562599	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145562599C>T	uc001eob.1	+	9	2395	c.2287C>T	c.(2287-2289)Ccg>Tcg	p.P763S	ANKRD35_uc010oyx.1_Missense_Mutation_p.P606S	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	763										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCTTGTCCCCGTGTAGGGA	0.662000														4			3		0	0	6.4e-05	0	0
ANKRD26	22852	broad.mit.edu	37	10	27301996	27301997	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:27301996_27301997CC>TT	uc009xku.1	-	31	4939_4940	c.4767_4768GG>AA	c.(4765-4770)gtggaa>gtAAaa	p.E1590K	ANKRD26_uc001itg.2_Missense_Mutation_p.E1276K|ANKRD26_uc001ith.2_Missense_Mutation_p.E1589K	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1589						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGCTGTTTTTCCACAAGAAGTT	0.411000														18			7		0	0	6.4e-05	0	0
UPK1A	11045	broad.mit.edu	37	19	36166795	36166795	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:36166795C>T	uc010eeh.3	+	4	522	c.522C>T	c.(520-522)gcC>gcT	p.A174A	UPK1A_uc002oaw.3_Silent_p.A174A|BC007817_uc002oax.1_5'Flank			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	174					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACGTCAGCCTTCCGGGCGG	0.642000														33			11		0	0	0.00010058	0	0
CNGA1	1259	broad.mit.edu	37	4	47938833	47938833	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:47938833G>A	uc003gxu.3	-	9	2026	c.1885C>T	c.(1885-1887)Cga>Tga	p.R629*	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Nonsense_Mutation_p.R560*	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	560					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GCCGTTCTTCGATTGCCAGCT	0.453000														88			27		0	0	0.000878237	0	0
ERBB4	2066	broad.mit.edu	37	2	212495195	212495195	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:212495195C>T	uc002veg.1	-	16	2169	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	ERBB4_uc002veh.1_Missense_Mutation_p.E691K|ERBB4_uc010zji.1_Missense_Mutation_p.E681K|ERBB4_uc010zjj.1_Missense_Mutation_p.E681K|ERBB4_uc010fut.1_Missense_Mutation_p.E691K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	691					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCTCTGTTTCCAAGAATCTT	0.368000										TSP Lung(8;0.080)				99			55		0	0	0.000781405	0	0
SGCZ	137868	broad.mit.edu	37	8	13959999	13959999	+	Silent	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:13959999T>G	uc003wwq.3	-	6	1290	c.630A>C	c.(628-630)tcA>tcC	p.S210S	SGCZ_uc010lss.3_Silent_p.S163S	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	197					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATCTGGTGGGTGATTCAAGCC	0.403000														24			9		0	0	0.000274275	0	0
RXFP3	51289	broad.mit.edu	37	5	33938001	33938001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:33938001C>T	uc003jic.2	+	0	1511	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	386						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTGCCTCAACCCCGTCCTCTA	0.622000														71			14		0	0	0.000566183	0	0
PDCL3	79031	broad.mit.edu	37	2	101185457	101185457	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:101185457G>A	uc002tao.2	+	2	310	c.198G>A	c.(196-198)gaG>gaA	p.E66E		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	66					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTAATGAGGAGGATGAACGTG	0.378000														58			7		0	0	8.12818e-05	0	0
NCOR2	9612	broad.mit.edu	37	12	124831179	124831179	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:124831179G>A	uc021rga.1	-	30	4428	c.4311C>T	c.(4309-4311)cgC>cgT	p.R1437R	NCOR2_uc021rgb.1_Silent_p.R1421R|NCOR2_uc010tbb.2_Silent_p.R1430R|NCOR2_uc010tbc.2_Silent_p.R1420R|NCOR2_uc021rgc.1_Silent_p.R1420R|NCOR2_uc010tba.2_Silent_p.R1438R|NCOR2_uc001ugj.1_Silent_p.R1438R	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1438					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	p.P1436L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGCTCCTCGCGCGGGATCT	0.726000														15			6		0	0	3.59834e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	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					34			54		0	0	0.000781405	0	0
PLK3	1263	broad.mit.edu	37	1	45270368	45270368	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:45270368G>A	uc001cmn.3	+	12	1652	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	518	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCCTTCTCCGTGGGTGCTGT	0.617000														145			16		0	0	0.000132079	0	0
TAF4	6874	broad.mit.edu	37	20	60574057	60574057	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:60574057G>A	uc002ybs.3	-	11	2895	c.2895C>T	c.(2893-2895)atC>atT	p.I965I		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	965					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCCTCATCAGGATCTCCCGCT	0.557000														196			71		0	0	0.000781405	0	0
FAM5C	339479	broad.mit.edu	37	1	190068163	190068163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:190068163G>A	uc001gse.1	-	7	1518	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L	FAM5C_uc010pot.1_Missense_Mutation_p.P327L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	429						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTGGTCATTCGGACACGTGCA	0.597000														20			13		0	0	0.000151284	0	0
OR2D3	120775	broad.mit.edu	37	11	6943038	6943038	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:6943038G>A	uc010rav.2	+	0	806	c.806G>A	c.(805-807)gGg>gAg	p.G269E		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTCTATGGGTCAGGAATA	0.428000														39			19		0	0	0.000958276	0	0
KERA	11081	broad.mit.edu	37	12	91449722	91449722	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:91449722C>T	uc001tbl.3	-	1	956	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	113					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCTCCTTTTTCAATTCCGTAG	0.393000														63			33		0	0	0.00058488	0	0
CCDC67	159989	broad.mit.edu	37	11	93103239	93103239	+	Splice_Site	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:93103239G>A	uc001pdq.3	+	6	533	c.433_splice	c.e6-1	p.E145_splice	CCDC67_uc001pdo.1_Splice_Site_p.E145_splice|CCDC67_uc001pdp.3_Splice_Site_p.E145_splice	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	145										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTTTAAAAGGAATTTAGAGC	0.299000														8			14		0	0	0.000308642	0	0
NOP14	8602	broad.mit.edu	37	4	2943972	2943972	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:2943972G>A	uc003ggj.1	-	13	2070	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L	NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Splice_Site_p.R413_splice|NOP14_uc003ggl.3_Silent_p.L666L	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	666					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCGCCCAGCGGAGGGAGAGGC	0.627000														30			19		0	0	0.000175454	0	0
FBXL21	26223	broad.mit.edu	37	5	135272332	135272332	+	RNA	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:135272332G>A	uc021ydv.1	+	4		c.531G>A			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGTTGTCAGGAGCAGCGAA	0.403000														57			40		0	0	0.000319135	0	0
FAM214A	56204	broad.mit.edu	37	15	52901928	52901928	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr15:52901928G>A	uc010ugf.2	-	4	1338	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	FAM214A_uc002acg.4_Missense_Mutation_p.P395S|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.P307S	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	395																	GTATTAAATGGACGTCCAGAA	0.388000														64			21		0	0	0.000375601	0	0
RHBDL1	9028	broad.mit.edu	37	16	726311	726311	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:726311C>T	uc002cis.1	+	0	237	c.210C>T	c.(208-210)gcC>gcT	p.A70A	RHBDL1_uc002cir.1_Intron|RHBDL1_uc010uun.1_Intron	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	70					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCACTCAGGCCTTGGCTGGCG	0.682000														7			5		0	0	0.000602214	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359091	64359091	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:64359091G>A	uc001oam.1	+	0	810	c.63G>A	c.(61-63)acG>acA	p.T21T	SLC22A12_uc009ypr.1_Silent_p.T21T|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Silent_p.T21T|SLC22A12_uc001oan.1_Silent_p.T21T|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	21					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TTCTCCAGACGATGGCTCTGA	0.622000														65			26		0	0	0.000339439	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406278	144406278	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:144406278C>T	uc003yxz.3	-	6	870	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	TOP1MT_uc011lkd.2_Missense_Mutation_p.R186Q|TOP1MT_uc011lke.2_Missense_Mutation_p.R186Q|TOP1MT_uc011lkf.2_Missense_Mutation_p.R79Q|TOP1MT_uc010mfd.1_Missense_Mutation_p.R79Q	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	284					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCGCAGGCGTCGAGCTGTTTC	0.517000														108			11		0	0	0.000151284	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635934	233635934	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:233635934T>G	uc002vto.3	-	0	182	c.139A>C	c.(139-141)Atc>Ctc	p.I47L	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_Missense_Mutation_p.I47L|KCNJ13_uc002vtp.3_Missense_Mutation_p.I47L|KCNJ13_uc021vyk.1_Intron	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	47						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TCCATTAGGATTCCCCAAGCA	0.488000														32			11		0	0	0.000673444	0	0
EED	8726	broad.mit.edu	37	11	85988165	85988165	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:85988165G>A	uc001pbp.3	+	9	1576	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	EED_uc010rtm.2_Missense_Mutation_p.M370I|EED_uc001pbq.3_Missense_Mutation_p.M370I|EED_uc001pbr.3_Missense_Mutation_p.M395I|EED_uc010rtn.1_Non-coding_Transcript	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	370	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGTTTTCTATGGATTTCTGGC	0.333000														104			6		0	0	0.000157383	0	0
PGM3	5238	broad.mit.edu	37	6	83892634	83892634	+	Missense_Mutation	SNP	C	T	T	rs73749732	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:83892634C>T	uc011dyz.2	-	5	774	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	PGM3_uc003pju.2_Missense_Mutation_p.R174Q|PGM3_uc003pjw.3_Missense_Mutation_p.R93Q|PGM3_uc021zcd.1_Missense_Mutation_p.R174Q	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	174					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTTTCCATATCGGCCACCCGT	0.403000														63			26		0	0	0.000279167	0	0
CNTN6	27255	broad.mit.edu	37	3	1424823	1424823	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:1424823C>T	uc003boz.3	+	17	2631	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S	CNTN6_uc011asj.2_Silent_p.S716S|CNTN6_uc003bpa.3_Silent_p.S788S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	788	Fibronectin type-III 2.				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)		GAGAAGGATCCCTGAGTACTG	0.428000														58			23		0	0	0.000720815	0	0
DNAH3	55567	broad.mit.edu	37	16	20996572	20996572	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:20996572C>T	uc010vbe.2	-	47	7492	c.7492G>A	c.(7492-7494)Gat>Aat	p.D2498N	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2498	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATGATTCATCCTTGATCTGG	0.517000														46			16		0	0	0.000566183	0	0
OR1S2	219958	broad.mit.edu	37	11	57970832	57970832	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:57970832G>A	uc010rkb.2	-	0	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGGAGGAGGGGAAAAAGTACA	0.483000														53			22		0	0	0.00047179	0	0
AHRR	57491	broad.mit.edu	37	5	434549	434549	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:434549C>T	uc003jav.3	+	11	1803	c.1760C>T	c.(1759-1761)aCc>aTc	p.T587I	AHRR_uc003jaw.3_Missense_Mutation_p.T569I|AHRR_uc010isy.3_Missense_Mutation_p.T415I|AHRR_uc010isz.3_Missense_Mutation_p.T565I|AHRR_uc003jax.3_Missense_Mutation_p.T328I|AHRR_uc003jay.3_Missense_Mutation_p.T425I|AHRR_uc003jaz.3_Missense_Mutation_p.T186I	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	569	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CACCCAGCCACCTTCCCTACC	0.642000														12			11		0	0	0.00010058	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792841	21792841	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:21792841C>T	uc001wag.3	+	13	1827	c.1827C>T	c.(1825-1827)gcC>gcT	p.A609A	RPGRIP1_uc001wah.3_Silent_p.A251A|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Silent_p.A74A|RPGRIP1_uc001wak.3_Silent_p.A84A|RPGRIP1_uc010aim.3_Intron|RPGRIP1_uc001wal.3_Missense_Mutation_p.P18L|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	609					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CACTGCCAGCCCATGGAGATG	0.493000														69			27		0	0	0.000227799	0	0
ZNF618	114991	broad.mit.edu	37	9	116811400	116811400	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr9:116811400C>T	uc004bid.3	+	14	1917	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ZNF618_uc004bic.3_Silent_p.F513F|ZNF618_uc011lxi.2_Silent_p.F573F|ZNF618_uc011lxj.2_Silent_p.F574F|ZNF618_uc010mvb.3_Silent_p.F196F	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F606F(1)|p.F513F(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGTCGGAGTTCGTGATGTCGG	0.597000														26			33		0	0	0.000228196	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256848	140256848	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140256848G>A	uc003lic.2	+	0	1918	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.V597V	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	610	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R596Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCGGTGGACGCTGACT	0.682000														50			27		0	0	0.000878237	0	0
SPATA19	219938	broad.mit.edu	37	11	133714222	133714222	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:133714222T>G	uc001qgv.1	-	3	329	c.278A>C	c.(277-279)cAc>cCc	p.H93P		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	93					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTAGAGAGGTGGTGCTTCAC	0.557000														56			6		0	0	3.59834e-05	0	0
PQLC2	54896	broad.mit.edu	37	1	19644249	19644249	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:19644249G>T	uc001bby.3	+	2	430	c.78G>T	c.(76-78)ttG>ttT	p.L26F	PQLC2_uc001bca.3_Missense_Mutation_p.L26F|PQLC2_uc001bbz.3_Intron|PQLC2_uc001bcb.3_Intron|PQLC2_uc021ohq.1_Non-coding_Transcript	NM_017765	NP_001035215	Q6ZP29	PQLC2_HUMAN	Homo sapiens PQ loop repeat containing 2 (PQLC2), transcript variant 2, mRNA.	26						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATGTGTTGGGTGAATGTG	0.607000														277			9		0.000442599	0.0053977	0.000442599	1	0
GPR161	23432	broad.mit.edu	37	1	168065750	168065750	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:168065750G>A	uc010pln.2	-	3	1689	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	GPR161_uc001gfb.3_Silent_p.I233I|GPR161_uc001gfc.3_Silent_p.I365I|GPR161_uc010pll.2_Silent_p.I275I|GPR161_uc010plm.2_Silent_p.I251I|GPR161_uc009wvo.3_Silent_p.I382I|GPR161_uc001gfd.3_Silent_p.I365I|GPR161_uc001gfe.1_Silent_p.I365I	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	365					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGTTACCTGTGATCCTGTTGG	0.522000														29			13		0	0	0.000308642	0	0
CSMD3	114788	broad.mit.edu	37	8	113332163	113332163	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:113332163C>T	uc003ynu.3	-	45	7372	c.7213G>A	c.(7213-7215)Gaa>Aaa	p.E2405K	CSMD3_uc003yns.3_Missense_Mutation_p.E1607K|CSMD3_uc003ynt.3_Missense_Mutation_p.E2365K|CSMD3_uc011lhx.2_Missense_Mutation_p.E2301K|CSMD3_uc003ynw.1_Missense_Mutation_p.E116K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2405	Sushi 13.					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						GTCAAAATTTCAGCATTGGGC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				63			28		0	0	0.000491102	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591993	167591993	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:167591993C>T	uc010kkp.3	+	4	751	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	207										endometrium(1)|kidney(2)|lung(3)	6						AGGCCGACTCCCGGTGCAGAA	0.522000														76			17		0	0	0.000295444	0	0
CNTN4	152330	broad.mit.edu	37	3	2967415	2967415	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:2967415C>T	uc003bpc.3	+	12	1649	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	CNTN4_uc003bpb.1_Missense_Mutation_p.P109L|CNTN4_uc021wsg.1_Missense_Mutation_p.P437L|CNTN4_uc003bpd.1_Missense_Mutation_p.P437L|CNTN4_uc003bpe.3_Missense_Mutation_p.P109L|CNTN4_uc003bpf.3_Missense_Mutation_p.P109L	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	437	Ig-like C2-type 5.				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)		TCTCCAAAACCTGTTTACACC	0.358000														92			38		0	0	0.000953801	0	0
IPO9	55705	broad.mit.edu	37	1	201839883	201839883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:201839883C>T	uc001gwz.3	+	17	2356	c.2306C>T	c.(2305-2307)aCc>aTc	p.T769I		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	769					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTGTTTCCACCCTCATCTCC	0.582000														58			10		0	0	0.000673444	0	0
PKHD1	5314	broad.mit.edu	37	6	51890761	51890761	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:51890761A>G	uc003pah.1	-	31	4123	c.3847T>C	c.(3847-3849)Tca>Cca	p.S1283P	PKHD1_uc003pai.3_Missense_Mutation_p.S1283P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1283	IPT/TIG 7.		S -> L.		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCTTGGTGAAGGACCACGG	0.582000														19			14		0	0	0.000308642	0	0
ZNF208	7757	broad.mit.edu	37	19	22155631	22155631	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:22155631G>A	uc021urr.1	-	3	2354	c.2205C>T	c.(2203-2205)gtC>gtT	p.V735V	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTAGTAAGGACTGAGAATG	0.378000														42			20		0	0	0.000295444	0	0
TULP1	7287	broad.mit.edu	37	6	35467845	35467845	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:35467845C>T	uc003okv.4	-	13	1420	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	TEAD3_uc003oku.4_5'Flank|TEAD3_uc010jvx.3_5'Flank|TULP1_uc003okw.4_Missense_Mutation_p.D417N	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	470					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACTGTCATCGTTCCAGACA	0.592000														56			32		0	0	0.000491102	0	0
EFHC1	114327	broad.mit.edu	37	6	52344502	52344502	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:52344502C>T	uc003pap.4	+	8	1772	c.1557C>T	c.(1555-1557)aaC>aaT	p.N519N	EFHC1_uc011dwv.1_Silent_p.N428N|EFHC1_uc011dww.2_Silent_p.N500N	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	519	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGGAGAGCAACGCTGCCCAGT	0.478000														44			23		0	0	0.00047179	0	0
OSM	5008	broad.mit.edu	37	22	30662782	30662782	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:30662782C>T	uc003ahb.3	-	0	48	c.7G>A	c.(7-9)Gta>Ata	p.V3I		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	3					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GTGAGCAGTACCCCCATGCTG	0.701000														21			15		0	0	0.000308642	0	0
EOMES	8320	broad.mit.edu	37	3	27760930	27760930	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:27760930G>A	uc003cdy.3	-	2	1079	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	EOMES_uc003cdx.3_Missense_Mutation_p.S360F|EOMES_uc010hfn.2_Missense_Mutation_p.S360F|EOMES_uc011axc.1_Missense_Mutation_p.S65F	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	360					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CATCCAGTGGGAACCAGTATT	0.413000														69			33		0	0	0.000814825	0	0
OR2V2	285659	broad.mit.edu	37	5	180582353	180582353	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:180582353G>A	uc011dhj.2	+	0	411	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L136L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCCTCATGAATCAGAGGG	0.507000														56			16		0	0	0.000422831	0	0
MYO5B	4645	broad.mit.edu	37	18	47375947	47375947	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:47375947C>A	uc002leb.2	-	31	4593	c.4305G>T	c.(4303-4305)caG>caT	p.Q1435H	MYO5B_uc002ldz.3_Missense_Mutation_p.Q5H|MYO5B_uc002lea.2_Missense_Mutation_p.Q550H	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1435					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.Q1435K(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTCTAGGTCCTGGGCTTTCT	0.488000														198			8		0.000274275	0.00336018	0.000274275	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354289	118354289	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:118354289G>A	uc001lco.1	+	4	396	c.378G>A	c.(376-378)aaG>aaA	p.K126K	PNLIPRP1_uc001lcp.2_Silent_p.K126K|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	126					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGGACTGGAAGAAGGGCTCCC	0.592000														35			22		0	0	0.000586117	0	0
ILDR2	387597	broad.mit.edu	37	1	166891843	166891843	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:166891843T>A	uc001gdx.2	-	7	1254	c.1198A>T	c.(1198-1200)Agc>Tgc	p.S400C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	400						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGCCTGAAGCTCTCTCGATCC	0.597000														142			50		0	0	0.000781405	0	0
STL	7955	broad.mit.edu	37	6	125231602	125231602	+	RNA	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:125231602C>T	uc003pzq.3	-	6		c.3132G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		TTCATTAATCCTTAAGTACTT	0.259000			T	ETV6	B-ALL									5			4		0	0	0.00024832	0	0
OR8D1	283159	broad.mit.edu	37	11	124180013	124180013	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:124180013G>A	uc010sag.2	-	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAAGGCATAGGAGACAGCAAC	0.512000														20			10		0	0	0.000673444	0	0
BOLL	66037	broad.mit.edu	37	2	198640397	198640397	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:198640397C>T	uc002uuu.1	-	4	741	c.362G>A	c.(361-363)gGg>gAg	p.G121E	BOLL_uc002uur.2_Missense_Mutation_p.G121E|BOLL_uc002uus.2_Missense_Mutation_p.G115E|BOLL_uc002uut.2_Missense_Mutation_p.G127E|BOLL_uc010zha.1_Intron	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	115					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACGAGGGATCCCTACTTGTTG	0.244000														97			9		0	0	0.00010058	0	0
GTF2H4	2968	broad.mit.edu	37	6	30880133	30880133	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:30880133C>T	uc003nsa.1	+	10	1194	c.987C>T	c.(985-987)gcC>gcT	p.A329A	VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank|VARS2_uc011dna.2_5'Flank|VARS2_uc011dnb.2_5'Flank|VARS2_uc011dnc.2_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	329					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCCTCATTGCCCTCTTCTCTG	0.592000								Nucleotide excision repair (NER)						50			21		0	0	0.000375601	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4408077	4408077	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:4408077G>A	uc002cwf.3	-	24	2928	c.2485C>T	c.(2485-2487)Cca>Tca	p.P829S	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.P609S|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.P829S|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.P811S|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.P744S|CORO7-PAM16_uc002cwi.1_3'UTR	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GCCGTGTCTGGGAACACGTCA	0.612000														35			12		0	0	0.000151284	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051061	110051061	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:110051061G>A	uc021org.1	-	0	474	c.474C>T	c.(472-474)gcC>gcT	p.A158A	AMIGO1_uc001dxx.4_Silent_p.A158A	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	158					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCTGCAGCTGGGCCATGTCAT	0.542000														60			33		0	0	0.000409698	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924152	105924152	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:105924152G>A	uc002tcq.3	-	1	691	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P203S	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	203	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCAGTAGGGAAACAGGTCC	0.607000														112			8		0	0	0.000157383	0	0
ANK1	286	broad.mit.edu	37	8	41571691	41571691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:41571691G>A	uc003xok.3	-	15	1867	c.1783C>T	c.(1783-1785)Ccg>Tcg	p.P595S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.P595S|ANK1_uc003xoj.3_Missense_Mutation_p.P595S|ANK1_uc003xol.3_Missense_Mutation_p.P595S|ANK1_uc003xom.3_Missense_Mutation_p.P628S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	595	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCTGTGCGGGGAGCCGCCC	0.662000														19			13		0	0	0.000308642	0	0
KCTD8	386617	broad.mit.edu	37	4	44177124	44177124	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:44177124G>A	uc003gwu.3	-	1	1389	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	369						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTGTCCTGGGGAGTGCTTGCC	0.483000										HNSCC(17;0.042)				69			10		0	0	0.000673444	0	0
ZNF225	7768	broad.mit.edu	37	19	44635878	44635878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:44635878C>T	uc002oyj.1	+	4	1354	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	ZNF225_uc010ejf.1_Missense_Mutation_p.P371S	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGGGGAGAAGCCATATAATTG	0.428000														45			30		0	0	0.00106085	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														39			6		0	0	3.59834e-05	0	0
DLG1	1739	broad.mit.edu	37	3	196786775	196786775	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:196786775G>A	uc010ial.3	-	23	2760	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	DLG1_uc011bub.2_Missense_Mutation_p.S730F|DLG1_uc011buc.2_Missense_Mutation_p.S718F|DLG1_uc011bud.2_Missense_Mutation_p.S517F|DLG1_uc003fxo.4_Missense_Mutation_p.S834F|DLG1_uc003fxn.4_Missense_Mutation_p.S856F|DLG1_uc011bue.2_Missense_Mutation_p.S822F	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	834	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTCCATGGATTTGGGTTT	0.373000														48			17		0	0	0.000958276	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373699	86373699	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:86373699G>A	uc010sum.2	-	5	1036	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	MGAT4C_uc001tal.4_Missense_Mutation_p.L269F|MGAT4C_uc001taj.4_Missense_Mutation_p.L269F|MGAT4C_uc001tak.4_Missense_Mutation_p.L269F|MGAT4C_uc001tai.4_Missense_Mutation_p.L269F|MGAT4C_uc001tah.4_Missense_Mutation_p.L269F	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	269					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAACGTGGGAGATCATGAGAA	0.388000														34			18		0	0	0.000958276	0	0
LMTK3	114783	broad.mit.edu	37	19	49000720	49000720	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:49000720C>A	uc002pjk.3	-	11	3693	c.3693G>T	c.(3691-3693)agG>agT	p.R1231S		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGGGCCCTTCCTCTCGGGCT	0.701000														29			10		2.68362e-12	3.3334e-11	0.00010058	1	0
CNKSR1	10256	broad.mit.edu	37	1	26509700	26509700	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:26509700C>T	uc001bln.4	+	6	695	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.H213Y|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	213	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTAGAAATTCACACCACCAG	0.622000														119			49		0	0	0.000781405	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:110919263G>A	uc002tfn.4	-	9	1130	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	NPHP1_uc002tfm.4_Nonsense_Mutation_p.R291*|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R347*|NPHP1_uc002tfo.4_Nonsense_Mutation_p.R228*|NPHP1_uc010ywx.2_Nonsense_Mutation_p.R290*|NPHP1_uc010fjv.1_Nonsense_Mutation_p.R290*	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TAATTTGCTCGAAATTGATTC	0.353000														32			12		0	0	0.000219431	0	0
BRD1	23774	broad.mit.edu	37	22	50217902	50217902	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:50217902C>A	uc011arg.2	-	0	78	c.64G>T	c.(64-66)Gtt>Ttt	p.V22F	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.V22F|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.V22F	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	22					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGTGTTTAACACTGCATGGG	0.463000														63			40		3.43241e-23	4.28333e-22	0.000437636	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44798879	44798879	+	Splice_Site	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:44798879G>A	uc003tlr.3	+	7	937	c.814_splice	c.e7-1	p.V272_splice	ZMIZ2_uc003tlq.3_Splice_Site_p.V240_splice|ZMIZ2_uc003tls.3_Splice_Site_p.V272_splice|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	272	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTCTTTTTCAGGTGTATCCAG	0.597000														130			44		0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	168103609	168103609	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:168103609G>A	uc002udx.3	+	8	5796	c.5707G>A	c.(5707-5709)Gaa>Aaa	p.E1903K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1728K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1681K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1728					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						TGAATGCCTTGAAAAAGCTAC	0.378000														37			19		0	0	0.000175454	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577540	+	Missense_Mutation	DNP	GG	AA	AA	rs121912651		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:7577539_7577540GG>AA	uc002gim.2	-	6	935_936	c.741_742CC>TT	c.(739-744)aaccgg>aaTTgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.N247N(20)|p.R248P(16)|p.R248R(12)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247K(4)|p.N247_R248>KW(4)|p.N247I(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCGC	0.574000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				45			14		0	0	6.4e-05	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952557	16952557	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrY:16952557C>T	uc011nas.1	+	6	2105	c.1926C>T	c.(1924-1926)ccC>ccT	p.P642P	NLGN4Y_uc004fte.2_Silent_p.P454P|NLGN4Y_uc004ftg.2_Silent_p.P622P|NLGN4Y_uc004ftf.2_Silent_p.P315P|NLGN4Y_uc004fth.2_Silent_p.P622P	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	622					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CATCATTTCCCTATGGCACCC	0.483000														62			7		0	0	0.000229342	0	0
ZNF720	124411	broad.mit.edu	37	16	31734610	31734610	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:31734610C>T	uc002ecq.3	+	2	363	c.168C>T	c.(166-168)acC>acT	p.T56T	ZNF720_uc010vfs.2_5'UTR|ZNF720_uc002ecn.4_Silent_p.T54T|ZNF720_uc002ecp.1_Intron			Q7Z2F6	ZN720_HUMAN	Homo sapiens zinc finger protein 720 (ZNF720), mRNA.	54	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						ACCTGATCACCTTTTTGGAGC	0.478000														11			3		0	0	6.4e-05	0	0
BDKRB2	624	broad.mit.edu	37	14	96707538	96707538	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:96707538C>T	uc010avm.1	+	2	1069	c.873C>T	c.(871-873)ttC>ttT	p.F291F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F264F|BDKRB2_uc001yfg.2_Silent_p.F291F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	291					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCAGCACCTTCCTGGATACGC	0.562000														27			10		0	0	0.000442599	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568444	140568444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140568444C>T	uc003liw.1	+	1	1550	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.682000														61			18		0	0	0.000175454	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350745	134350745	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr9:134350745C>T	uc004can.4	+	14	3284	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	PRRC2B_uc010mzj.1_Missense_Mutation_p.R660C|PRRC2B_uc004cao.4_Missense_Mutation_p.R435C	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1077							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTCACTTTTCGTGGTCGGCC	0.627000														12			15		0	0	0.000308642	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854230	12854230	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:12854230G>A	uc001auj.2	+	2	557	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	152										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGTTCATAGACATCTGCCT	0.522000														168			87		0	0	0.000781405	0	0
NAV3	89795	broad.mit.edu	37	12	78443775	78443775	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:78443775G>A	uc001syp.3	+	9	2199	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	NAV3_uc001syo.3_Missense_Mutation_p.E676K|NAV3_uc010sub.2_Missense_Mutation_p.E176K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	676						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTCCTAGGTGAAGACCCTGA	0.338000										HNSCC(70;0.22)				22			9		0	0	0.000673444	0	0
TFR2	7036	broad.mit.edu	37	7	100218570	100218570	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:100218570G>A	uc003uvv.1	-	17	2385	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	TFR2_uc010lhc.1_Silent_p.F313F|TFR2_uc003uvu.1_Silent_p.F601F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	772					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCTGACGCCGGAAACGGCTCT	0.662000														12			16		0	0	0.000422831	0	0
CSMD2	114784	broad.mit.edu	37	1	34174812	34174812	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:34174812G>A	uc001bxm.1	-	21	3630	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	CSMD2_uc001bxn.1_Silent_p.S1111S|CSMD2_uc001bxo.1_Silent_p.S24S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1111	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAAGTTGGGGGACAGCAAAG	0.478000														29			11		0	0	0.000978159	0	0
TEX2	55852	broad.mit.edu	37	17	62226432	62226432	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:62226432T>G	uc002jed.3	-	11	3453	c.3302A>C	c.(3301-3303)aAc>aCc	p.N1101T	TEX2_uc002jec.3_Missense_Mutation_p.N1094T|TEX2_uc002jee.3_Missense_Mutation_p.N1094T	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	1094					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ATCATCCATGTTTGGCATGAC	0.453000														18			20		0	0	0.000295444	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														48			4		0	0	0.00024832	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618595	77618595	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:77618595C>T	uc003yau.2	+	1	2659	c.2272C>T	c.(2272-2274)Ccg>Tcg	p.P758S	ZFHX4_uc003yat.1_Missense_Mutation_p.P758S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P758S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	758						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P758P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACACCCTCTCCGTCCAAACC	0.522000										HNSCC(33;0.089)				15			7		0	0	8.12818e-05	0	0
SDCBP	6386	broad.mit.edu	37	8	59492257	59492257	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:59492257A>G	uc003xtn.3	+	6	804	c.654A>G	c.(652-654)atA>atG	p.I218M	SDCBP_uc003xto.3_Missense_Mutation_p.I217M|SDCBP_uc003xtr.3_Missense_Mutation_p.I217M|SDCBP_uc003xtq.3_Missense_Mutation_p.I218M|SDCBP_uc003xtp.3_Missense_Mutation_p.I212M|SDCBP_uc003xts.3_Missense_Mutation_p.I224M|SDCBP_uc011led.2_Missense_Mutation_p.I159M	NM_005625	NP_005616	O00560	SDCB1_HUMAN	Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.	218	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein N-terminus binding|protein heterodimerization activity|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGGAAAAATAACATCCATAG	0.368000														54			27		0	0	0.000586117	0	0
UBR4	23352	broad.mit.edu	37	1	19433196	19433196	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:19433196G>A	uc001bbi.3	-	82	12264	c.12260C>T	c.(12259-12261)cCc>cTc	p.P4087L	UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4087					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGATTTGCTGGGGGCTTTCCC	0.547000														74			41		0	0	0.000374591	0	0
MTIF2	4528	broad.mit.edu	37	2	55481309	55481309	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:55481309G>A	uc002ryn.3	-	7	1269	c.532C>T	c.(532-534)Cca>Tca	p.P178S	MTIF2_uc010yox.2_Intron|MTIF2_uc002ryo.3_Missense_Mutation_p.P178S	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	178					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GGGGACCTTGGGGTTAATAAA	0.403000														43			9		0	0	0.00010058	0	0
SNCAIP	9627	broad.mit.edu	37	5	121776381	121776381	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:121776381G>A	uc003ksw.1	+	6	1560	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E10K|SNCAIP_uc010jct.3_Missense_Mutation_p.E452K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E86K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E499K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E86K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E48K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E86K|SNCAIP_uc003kta.1_Missense_Mutation_p.E84K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E146K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E392K|BC029465_uc003ktb.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	452					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCGTTGGATGAAGTAGACCA	0.448000														87			42		0	0	0.000781405	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434818	1434818	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:1434818C>T	uc002lsn.3	+	11	1320	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	377	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCCCTCCGTGCCAGGGT	0.692000														12			7		0	0	8.12818e-05	0	0
TMEM177	80775	broad.mit.edu	37	2	120438625	120438625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:120438625C>T	uc021vnk.1	+	0	196	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Nonsense_Mutation_p.Q66*|TMEM177_uc002tmc.1_Nonsense_Mutation_p.Q66*|TMEM177_uc002tmd.2_Nonsense_Mutation_p.Q66*|TMEM177_uc010flh.3_Nonsense_Mutation_p.Q66*	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	66						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GAGCCTCTTCCAAGAGGTGCT	0.592000														88			49		0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152466398	152466398	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:152466398G>A	uc021vrb.1	-	75	11555	c.11526C>T	c.(11524-11526)taC>taT	p.Y3842Y	NEB_uc002txu.3_Silent_p.Y4085Y|NEB_uc021vrc.1_Silent_p.Y4085Y|NEB_uc010fnx.3_Silent_p.Y3830Y|NEB_uc021vrd.1_Silent_p.Y3842Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3842					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTCATGCAGGTAATTGCGAT	0.423000														115			10		0	0	0.000442599	0	0
OR10R2	343406	broad.mit.edu	37	1	158450564	158450564	+	Silent	SNP	G	A	A	rs146808200		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:158450564G>A	uc010pik.2	+	0	897	c.897G>A	c.(895-897)acG>acA	p.T299T	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGACATACACGATTGTCACTC	0.433000														25			24		0	0	0.000720815	0	0
LYST	1130	broad.mit.edu	37	1	235922514	235922514	+	Silent	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:235922514T>G	uc001hxj.2	-	22	6814	c.6639A>C	c.(6637-6639)tcA>tcC	p.S2213S	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2213					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTCATCTTCTGACCTGGGTT	0.542000														78			27		0	0	0.00058488	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145296403C>T	uc021oul.1	+	2	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000														270			9		0	0	0.000442599	0	0
ILDR2	387597	broad.mit.edu	37	1	166891849	166891849	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:166891849G>A	uc001gdx.2	-	7	1248	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	398						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGCTCTCTCGATCCTCTTTG	0.597000														152			55		0	0	0.000781405	0	0
TRPS1	7227	broad.mit.edu	37	8	116426948	116426948	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:116426948C>T	uc003yny.3	-	6	3766	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E	TRPS1_uc011lhy.2_Missense_Mutation_p.G1054E|TRPS1_uc003ynz.3_Missense_Mutation_p.G1050E|TRPS1_uc010mcy.3_Missense_Mutation_p.G1050E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1050	Mediates interaction with RNF4 (By similarity).				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGAACTATTTCCTGGATCTCC	0.443000									Langer-Giedion syndrome					120			14		0	0	0.000566183	0	0
NLRP12	91662	broad.mit.edu	37	19	54318189	54318189	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:54318189C>T	uc002qcj.4	-	1	563	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	NLRP12_uc002qch.4_Missense_Mutation_p.E115K|NLRP12_uc002qci.4_Missense_Mutation_p.E115K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E115K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	115					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGAGAGACTTCCAGAAGGCAT	0.517000														68			48		0	0	0.000781405	0	0
LRP2	4036	broad.mit.edu	37	2	170034386	170034386	+	Silent	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:170034386A>G	uc002ues.3	-	52	10533	c.10320T>C	c.(10318-10320)aaT>aaC	p.N3440N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3440					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGTCTGTCTATTTGATCCAT	0.423000														204			19		0	0	0.000295444	0	0
LILRA5	353514	broad.mit.edu	37	19	54818745	54818745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:54818745G>A	uc002qfe.3	-	6	973	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	LILRA5_uc002qff.3_Nonsense_Mutation_p.Q273*	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	285					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCAATCCTGAAATATCAGA	0.532000														51			30		0	0	0.000279167	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385510	50385511	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:50385510_50385511GG>AA	uc002pqo.3	+	6	950_951	c.651_652GG>AA	c.(649-654)caggat>caAAat	p.D218N	TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.D185N|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	218						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCTTCCTCCAGGATCCCTACTC	0.683000														56			8		0	0	6.4e-05	0	0
C3orf71	646450	broad.mit.edu	37	3	48956243	48956243	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:48956243C>T	uc010hkk.1	-	0	576	c.340G>A	c.(340-342)Gat>Aat	p.D114N	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	114						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						CGACCCCGATCCGGAAGTGAC	0.682000														15			9		0	0	0.000442599	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401656	1401656	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:1401656G>A	uc010nct.2	+	3	382	c.60G>A	c.(58-60)ctG>ctA	p.L20L	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.L20L|CSF2RA_uc004cpq.2_Silent_p.L20L|CSF2RA_uc004cpn.2_Silent_p.L20L|CSF2RA_uc004cpo.2_Silent_p.L20L|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.L20L|CSF2RA_uc010ncv.2_Silent_p.L20L|CSF2RA_uc004cpr.2_Silent_p.L20L	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	20						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CATTCCTCCTGATCCCAGAGA	0.537000														173			92		0	0	0.000781405	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633654	70633654	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:70633654C>T	uc001xly.3	-	1	2240	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E496K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E496K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E496K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	496					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGCATCCCCTCCTCTGGCTGC	0.517000														55			23		0	0	0.000295444	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814964	54814964	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:54814964C>T	uc002lgm.3	+	0	672	c.421C>T	c.(421-423)Cat>Tat	p.H141Y						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		ACAAATAATTCATGAATTCCT	0.512000														8			7		0	0	8.12818e-05	0	0
OR2F1	26211	broad.mit.edu	37	7	143657556	143657556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:143657556C>T	uc003wds.1	+	0	537	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TATCACCTTTCAGCTGCCCAT	0.522000														82			7		0	0	8.12818e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367820	145367820	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145367820C>T	uc021oul.1	+	82	10451	c.10416C>T	c.(10414-10416)ccC>ccT	p.P3472P	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3472										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CACCATGCCCCAGGTGACTTT	0.438000														56			11		0	0	0.000978159	0	0
SCN9A	6335	broad.mit.edu	37	2	167138295	167138295	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:167138295C>T	uc010fpl.3	-	12	2306	c.1965G>A	c.(1963-1965)aaG>aaA	p.K655K	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.K537K|SCN9A_uc002uds.1_Silent_p.K537K|SCN9A_uc002udt.1_Silent_p.K526K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	666						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACGCCTTTTCTTGTGTATTT	0.343000														86			5		0	0	3.59834e-05	0	0
POM121	9883	broad.mit.edu	37	7	72409898	72409898	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:72409898C>T	uc003twk.2	+	6	1391	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	POM121_uc003twj.3_Missense_Mutation_p.S199F|POM121_uc010lam.1_Missense_Mutation_p.S199F	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	464	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGTCATCATTCCAGTTCTTCA	0.478000														77			5		0	0	8.12818e-05	0	0
STAB2	55576	broad.mit.edu	37	12	104054484	104054484	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:104054484C>T	uc001tjw.3	+	16	1998	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	604	FAS1 2.				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						CTCTCATCTCCACCCCTCACA	0.488000														60			33		0	0	0.000814825	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565428	69565428	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:69565428C>A	uc001jnb.3	-	3	583	c.415G>T	c.(415-417)Gag>Tag	p.E139*	U6_uc021prq.1_5'Flank	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	139					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GAAGCCAGCTCCTCTTTCTTT	0.443000														112			84		1.68136e-41	2.10799e-40	0.000781405	1	0
MYO18B	84700	broad.mit.edu	37	22	26423026	26423026	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:26423026G>A	uc003abz.1	+	42	7336	c.7086G>A	c.(7084-7086)ggG>ggA	p.G2362G	MYO18B_uc003aca.1_Silent_p.G2243G|MYO18B_uc010guy.1_Silent_p.G2244G|MYO18B_uc010guz.1_Silent_p.G2242G|MYO18B_uc011aka.1_Silent_p.G1516G|MYO18B_uc011akb.1_Silent_p.G1875G|MYO18B_uc010gva.1_Silent_p.G345G|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2362						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGCATGGGGAGAAAACTGA	0.582000														65			24		0	0	0.000184323	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089945	115089945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:115089945C>T	uc001vuv.3	+	2	960	c.628C>T	c.(628-630)Cct>Tct	p.P210S	CHAMP1_uc010tko.2_Missense_Mutation_p.P210S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P210S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P210S	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	210	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ACCACAGAAACCTGCCCCTGT	0.493000														176			47		0	0	0.000781405	0	0
OR10A5	144124	broad.mit.edu	37	11	6867792	6867792	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:6867792G>A	uc001met.1	+	0	879	c.879G>A	c.(877-879)ttG>ttA	p.L293L		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACAGCTTGAGAAATAGCG	0.433000														49			22		0	0	0.000229342	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284450	118284450	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:118284450C>T	uc004era.4	-	0	93	c.93G>A	c.(91-93)agG>agA	p.R31R		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	31										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCCCTCGGTCCCTGGGGCCCA	0.617000														23			6		0	0	0.000157383	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384717	133384717	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:133384717T>C	uc001ukz.1	-	4	1497	c.938A>G	c.(937-939)aAt>aGt	p.N313S	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.N313S|GOLGA3_uc001ulb.3_Missense_Mutation_p.N313S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	313					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCTGTCATTTCCATCCAC	0.602000														45			20		0	0	0.000132079	0	0
PSG3	5671	broad.mit.edu	37	19	43243130	43243130	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:43243130G>A	uc002oue.3	-	1	308	c.176C>T	c.(175-177)cCc>cTc	p.P59L	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	59	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AAGATTCTGGGGCAAATTGTG	0.443000														154			65		0	0	0.000781405	0	0
ZNF827	152485	broad.mit.edu	37	4	146824143	146824144	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:146824143_146824144CC>TT	uc003ikn.3	-	1	315_316	c.267_268GG>AA	c.(265-270)gaggtc>gaAAtc	p.V90I	ZNF827_uc003ikm.3_Missense_Mutation_p.V90I|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTCGCAGGACCTCACTGTCCA	0.594000														26			16		0	0	6.4e-05	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853067	35853067	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:35853067C>T	uc001byt.3	+	12	2205	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	ZMYM4_uc009vuu.3_Nonsense_Mutation_p.Q677*|ZMYM4_uc001byu.3_Nonsense_Mutation_p.Q385*|ZMYM4_uc009vuv.3_Nonsense_Mutation_p.Q448*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	709					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAAATGTTTCAGTTCTGTGG	0.294000														36			14		0	0	0.000308642	0	0
NUDT15	55270	broad.mit.edu	37	13	48611944	48611945	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:48611944_48611945CC>TT	uc001vbw.1	+	0	242_243	c.62_63CC>TT	c.(61-63)acc>aTT	p.T21I	SUCLA2_uc010tgd.2_5'UTR|NUDT15_uc001vbv.3_Missense_Mutation_p.T21I	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA.	21	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GTCGTGGTGACCAGCTGCAAGC	0.673000											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		0	0	6.4e-05	0	0
ADAM33	80332	broad.mit.edu	37	20	3655477	3655477	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:3655477C>T	uc002wit.3	-	4	440	c.353G>A	c.(352-354)gGg>gAg	p.G118E	ADAM33_uc002wir.1_Missense_Mutation_p.G118E|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.G118E|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G130E|ADAM33_uc010zqh.1_Missense_Mutation_p.G118E	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	118					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCTTACTCGCCCTTGGTAGTG	0.637000														31			5		0	0	0.000602214	0	0
HSD3B2	3284	broad.mit.edu	37	1	119985600	119985600	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:119985600C>T	uc001ehu.3	+	3	579	c.407C>T	c.(406-408)aCc>aTc	p.T136I				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GTCATCCACACCGCCTGTATC	0.507000														16			8		0	0	0.000274275	0	0
IL17REL	400935	broad.mit.edu	37	22	50439249	50439249	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:50439249G>A	uc003bje.1	-	4	385	c.153C>T	c.(151-153)acC>acT	p.T51T		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	51										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTCTCCTGGGTGTCCAGGC	0.721000														5			12		0	0	0.000151284	0	0
TMEM59L	25789	broad.mit.edu	37	19	18727834	18727834	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:18727834G>A	uc010ebu.1	+	4	673	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	TMEM59L_uc002njy.4_Missense_Mutation_p.G196S	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	196						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGAGAGCCTCGGCTTCCAGGG	0.647000														99			18		0	0	0.000132079	0	0
PPARA	5465	broad.mit.edu	37	22	46628007	46628007	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:46628007C>T	uc003bhb.1	+	5	1153	c.1030C>T	c.(1030-1032)Cta>Tta	p.L344L	PPARA_uc003bgw.1_Silent_p.L344L|PPARA_uc003bgx.1_Silent_p.L344L|PPARA_uc010hab.1_Silent_p.L344L|PPARA_uc010hac.1_Silent_p.L141L	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	344	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCGTGAATTCCTAAAAAGCCT	0.428000														74			31		0	0	0.000279167	0	0
SHANK2	22941	broad.mit.edu	37	11	70336421	70336421	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:70336421C>T	uc001oqc.3	-	18	2425	c.2313G>A	c.(2311-2313)ctG>ctA	p.L771L	SHANK2_uc010rqn.2_Silent_p.L247L|SHANK2_uc001opz.3_Silent_p.L242L|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.L239L|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Silent_p.L50L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	458					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGGGATGCCCAGAAACGGGG	0.562000														50			26		0	0	0.000878237	0	0
CACNA1A	773	broad.mit.edu	37	19	13397387	13397387	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:13397387C>T	uc002mwy.3	-	19	3719	c.3483G>A	c.(3481-3483)agG>agA	p.R1161R	CACNA1A_uc010dzc.2_Silent_p.R687R|CACNA1A_uc010xnd.2_Silent_p.R1164R|CACNA1A_uc021ups.1_Silent_p.R1161R|CACNA1A_uc010xne.2_Silent_p.R1164R|CACNA1A_uc010dze.2_Silent_p.R1161R|CACNA1A_uc021upt.1_Silent_p.R1162R	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1162					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTCGGGTTTCCTGGCAGTCT	0.627000														20			16		0	0	0.000566183	0	0
USP31	57478	broad.mit.edu	37	16	23085100	23085100	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:23085100G>A	uc002dll.3	-	13	2278	c.2278C>T	c.(2278-2280)Ctc>Ttc	p.L760F	USP31_uc002dlk.3_5'Flank|USP31_uc010vca.2_Missense_Mutation_p.L63F|USP31_uc010bxm.3_Missense_Mutation_p.L48F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	760					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGGTAGAAGAGGATGTATGCT	0.542000														32			12		0	0	0.00010058	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269600	30269600	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:30269600G>A	uc022buh.1	+	0	990	c.990G>A	c.(988-990)acG>acA	p.T330T	MAGEB1_uc004dcc.3_Silent_p.T330T|MAGEB1_uc004dcd.3_Silent_p.T330T|MAGEB1_uc004dce.3_Silent_p.T330T	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	330								p.A329V(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTACTGCCACGACTTTTAGAG	0.527000														10			28		0	0	0.000184323	0	0
ZFP112	7771	broad.mit.edu	37	19	44892134	44892134	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:44892134G>A	uc010xxa.2	-	3	337	c.294C>T	c.(292-294)atC>atT	p.I98I	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.I91I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	123					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						GAAGGTTCACGATATAATCCT	0.418000														56			18		0	0	0.00074312	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364690	142364690	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:142364690T>C	uc003vzx.3	+	1	359	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCTCTTTACTTCTGTGCCAC	0.507000														25			63		0	0	0.000781405	0	0
SUV420H2	84787	broad.mit.edu	37	19	55854219	55854219	+	Splice_Site	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:55854219G>A	uc002qkj.4	+	4	634	c.386_splice	c.e4+1	p.W129_splice	SUV420H2_uc010esx.1_Nonsense_Mutation_p.W129*|SUV420H2_uc002qkk.1_Nonsense_Mutation_p.W129*|SUV420H2_uc002qkl.3_Splice_Site_p.W14_splice	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	129	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACTCGTGCTTGGTAAGAGGGC	0.592000														20			9		0	0	0.000442599	0	0
PITRM1	10531	broad.mit.edu	37	10	3191935	3191935	+	Silent	SNP	G	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:3191935G>T	uc009xhv.2	-	15	1818	c.1749C>A	c.(1747-1749)atC>atA	p.I583I	PITRM1_uc001igr.2_Silent_p.I583I|PITRM1_uc001igt.2_Silent_p.I583I|PITRM1_uc010qah.2_Silent_p.I551I|PITRM1_uc001igu.1_Silent_p.I575I|PITRM1_uc010qai.2_Silent_p.I554I	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	551					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACTGAACAGGGATATCTCCAG	0.438000														73			17		5.03518e-11	6.22553e-10	0.000958276	1	0
DNAH7	56171	broad.mit.edu	37	2	196642563	196642563	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:196642563G>A	uc002utj.4	-	58	11126	c.11025C>T	c.(11023-11025)ttC>ttT	p.F3675F	DNAH7_uc002uti.4_Silent_p.F158F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3675					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						CACTTGAGTCGAACTTATAGT	0.418000														29			14		0	0	0.000308642	0	0
ABCC3	8714	broad.mit.edu	37	17	48750479	48750479	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:48750479G>A	uc002isl.3	+	17	2469	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	797	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CATCGGGCCAGAAGGCGTGCT	0.577000														37			17		0	0	0.000132079	0	0
GAS6	2621	broad.mit.edu	37	13	114531609	114531609	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:114531609C>G	uc001vug.3	-	2	1374	c.322G>C	c.(322-324)Ggg>Cgg	p.G108R	GAS6_uc001vud.3_Missense_Mutation_p.G407R|GAS6_uc001vuf.3_Missense_Mutation_p.G134R	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	450					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AACAAGTCCCCGGCCACCGCG	0.552000														53			16		0	0	0.000422831	0	0
LRP1	4035	broad.mit.edu	37	12	57573125	57573125	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:57573125C>T	uc001snd.3	+	28	5218	c.4752C>T	c.(4750-4752)ttC>ttT	p.F1584F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1584					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTAAGAAGTTCCTGCTGTACG	0.557000														19			5		0	0	3.59834e-05	0	0
GPR141	353345	broad.mit.edu	37	7	37780304	37780304	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:37780304C>T	uc003tfm.1	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	103						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T102T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCACGTTCCTATTCTATG	0.468000														88			28		0	0	0.000720815	0	0
ZFP42	132625	broad.mit.edu	37	4	188924849	188924849	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:188924849C>T	uc003izh.1	+	3	1296	c.888C>T	c.(886-888)atC>atT	p.I296I	ZFP42_uc003izi.1_Silent_p.I296I|ZFP42_uc021xvm.1_Silent_p.I296I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	296					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAGCCCACATCCTAACGCATG	0.468000														52			4		0	0	0.00024832	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740075	140740075	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140740075G>A	uc003ljs.2	+	0	373	c.373G>A	c.(373-375)Gat>Aat	p.D125N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D125N	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	125	Cadherin 1.				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)			AATTGTGCAGGATATAAATGA	0.403000														34			15		0	0	0.000308642	0	0
API5	8539	broad.mit.edu	37	11	43345121	43345122	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:43345121_43345122CC>TT	uc010rfh.1	+	5	858_859	c.685_686CC>TT	c.(685-687)ccc>TTc	p.P229F	API5_uc001mxf.2_Missense_Mutation_p.P229F|API5_uc010rfg.1_Missense_Mutation_p.P218F|API5_uc010rfi.1_Missense_Mutation_p.P175F|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Missense_Mutation_p.P103F	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	229					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GACCTTCAATCCCTCGGATCCT	0.490000														105			47		0	0	6.4e-05	0	0
HSF5	124535	broad.mit.edu	37	17	56540534	56540534	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:56540534G>A	uc002iwi.1	-	3	1275	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	384						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H383R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTAGGGGAGGAATGCAACTC	0.423000														58			42		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9087881	9087881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:9087881C>T	uc002mkp.3	-	0	4138	c.3934G>A	c.(3934-3936)Gag>Aag	p.E1312K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1312	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						GTGTTAGTCTCTCCAGGAGCT	0.512000														41			11		0	0	0.000978159	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409663	59409663	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:59409663A>C	uc003xtm.4	-	2	471	c.408T>G	c.(406-408)caT>caG	p.H136Q		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	136					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATTCAAGGCATGGCCCTGCA	0.473000									Neonatal Giant Cell Hepatitis					66			34		0	0	0.00058488	0	0
CHST4	10164	broad.mit.edu	37	16	71570920	71570920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:71570920G>A	uc021tkt.1	+	0	340	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CHST4_uc002fan.3_Missense_Mutation_p.E114K|CHST4_uc002fao.3_Missense_Mutation_p.E114K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	114					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCCTACATGGAACCTGGTCC	0.567000														33			22		0	0	0.000878237	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634740	83634740	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:83634740C>T	uc003uhz.3	-	10	1590	c.1275G>A	c.(1273-1275)acG>acA	p.T425T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	425	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AATTTACATCCGTTTTGATCA	0.368000														59			25		0	0	0.00106085	0	0
C8orf86	389649	broad.mit.edu	37	8	38370031	38370031	+	Silent	SNP	G	A	A	rs138372010		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:38370031G>A	uc003xlx.1	-	2	571	c.546C>T	c.(544-546)tcC>tcT	p.S182S		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	182										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						tcagttccccggagattctga	0.537000														57			24		0	0	0.000878237	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111240	7111240	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:7111240G>A	uc001mfc.2	+	0	1076	c.889G>A	c.(889-891)Ggg>Agg	p.G297R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	297	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.G297V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCAGGACGGGGGACACCGCC	0.662000														22			6		0	0	8.12818e-05	0	0
PDE6C	5146	broad.mit.edu	37	10	95385332	95385332	+	Splice_Site	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:95385332G>A	uc001kiu.4	+	5	1003	c.865_splice	c.e5-1	p.E289_splice		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	289	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGCCTCCAGGAATTCTACGA	0.378000														35			4		0	0	0.000602214	0	0
GPR179	440435	broad.mit.edu	37	17	36482717	36482717	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:36482717C>T	uc002hpz.3	-	10	6756	c.6735G>A	c.(6733-6735)gaG>gaA	p.E2245E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	2245						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E2245G(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCAGTTTCCTCCCCAGGAC	0.493000														58			21		0	0	0.00047179	0	0
SMAD7	4092	broad.mit.edu	37	18	46468900	46468900	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:46468900G>A	uc002ldg.3	-	2	980	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SMAD7_uc002ldf.3_Silent_p.S43S|SMAD7_uc010xde.2_Silent_p.S16S|SMAD7_uc021ujr.1_Silent_p.S230S	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	231					BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TTTCAGCGGAGGAAGGCACAG	0.438000														43			34		0	0	0.000491102	0	0
SPTB	6710	broad.mit.edu	37	14	65220430	65220430	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:65220430C>T	uc001xhr.3	-	31	6478	c.6427G>A	c.(6427-6429)Ggg>Agg	p.G2143R	SPTB_uc001xhs.3_Missense_Mutation_p.G2143R|SPTB_uc010aqi.3_Missense_Mutation_p.G804R	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA.	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTCATCCCCAGTGGATTTC	0.647000														45			23		0	0	0.000720815	0	0
IRX4	50805	broad.mit.edu	37	5	1879826	1879826	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:1879826G>A	uc003jcz.2	-	3	647	c.528C>T	c.(526-528)atC>atT	p.I176I	IRX4_uc011cmf.1_Silent_p.I37I	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	176					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGGCCAGCATGATCTTCTCGC	0.642000														49			19		0	0	0.000132079	0	0
ESCO2	157570	broad.mit.edu	37	8	27634168	27634168	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:27634168G>A	uc003xgg.3	+	2	426	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.E115K	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	115					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AACTAATGATGAAGATAAATC	0.353000									SC Phocomelia syndrome					25			13		0	0	0.00010058	0	0
F5	2153	broad.mit.edu	37	1	169493087	169493087	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:169493087C>T	uc001ggg.1	-	19	5989	c.5844G>A	c.(5842-5844)tgG>tgA	p.W1948*		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1948	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTACACTCCAAGCATTAT	0.323000														116			58		0	0	0.000781405	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139644	5139644	+	Nonsense_Mutation	SNP	C	T	T	rs118150330	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:5139644C>T	uc001ihr.3	+	2	454	c.271C>T	c.(271-273)Cga>Tga	p.R91*	AKR1C3_uc021pml.1_Nonsense_Mutation_p.R91*|AKR1C3_uc010qap.2_Nonsense_Mutation_p.R68*|AKR1C3_uc010qaq.1_Nonsense_Mutation_p.R91*|AKR1C3_uc001ihu.3_Nonsense_Mutation_p.R91*	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	91					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CACTTTTCATCGACCAGAGTT	0.393000														51			37		0	0	0.000270559	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883076	228883076	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:228883076C>T	uc002vpq.2	-	6	2541	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E832K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E832K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	832						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGATATATTTCCTTGGAGGAT	0.488000														71			11		0	0	0.000978159	0	0
CNGB3	54714	broad.mit.edu	37	8	87645038	87645038	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:87645038A>T	uc003ydx.3	-	10	1310	c.1262T>A	c.(1261-1263)gTt>gAt	p.V421D	CNGB3_uc010maj.3_Missense_Mutation_p.V283D	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	421					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAGTTGAAAAACAATTTCAAA	0.353000														26			18		0	0	0.00074312	0	0
SCRIB	23513	broad.mit.edu	37	8	144885625	144885625	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:144885625G>A	uc003yzp.1	-	23	3538	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.L1177L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1177	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCACACTGCGGAGCAGCTGCA	0.711000														8			4		0	0	3.59834e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187978	140187978	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140187978G>A	uc003lhi.2	+	0	1307	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.K402K|PCDHAC2_uc011daa.2_Silent_p.K402K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	416	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCAAGAATTACTACT	0.607000														120			6		0	0	8.12818e-05	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120970	119120970	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:119120970G>A	uc003ecj.4	+	9	1903	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	457					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.S457S(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCTACACTTCGAACGACAGCC	0.592000														28			24		0	0	0.000184323	0	0
LOC642846	642846	broad.mit.edu	37	12	9464362	9464362	+	RNA	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:9464362C>T	uc001qvp.2	+	13		c.1217C>T			LOC642846_uc010sgp.1_Intron					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		TGACAGAGGCCCTGCTCCTCT	0.552000														59			34		0	0	0.000692331	0	0
FMO1	2326	broad.mit.edu	37	1	171251405	171251405	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:171251405C>T	uc009wvz.3	+	6	1252	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	FMO1_uc010pme.2_Silent_p.I309I|FMO1_uc001ghl.3_Silent_p.I372I|FMO1_uc001ghm.3_Silent_p.I372I	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	372					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGCCTCATCAAACCCTTGG	0.468000														64			26		0	0	0.000227799	0	0
PCDH18	54510	broad.mit.edu	37	4	138452867	138452867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:138452867C>T	uc003ihe.4	-	0	763	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	PCDH18_uc003ihf.4_Missense_Mutation_p.E119K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	126	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAGCACTTCAACTTCAATA	0.433000														49			19		0	0	0.000958276	0	0
HYDIN	54768	broad.mit.edu	37	16	70841912	70841912	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:70841912G>A	uc002ezr.3	-	85	15085	c.14934C>T	c.(14932-14934)ggC>ggT	p.G4978G	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4979										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCTCCCTGGCCTCCTGGGG	0.542000														40			22		0	0	0.000175454	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811443	5811443	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:5811443G>A	uc010ndi.3	-	6	2441	c.1977C>T	c.(1975-1977)ccC>ccT	p.P659P	NLGN4X_uc004crp.3_Silent_p.P642P|NLGN4X_uc010ndh.3_Silent_p.P622P|NLGN4X_uc004crq.3_Silent_p.P622P|NLGN4X_uc004crr.3_Silent_p.P622P|NLGN4X_uc010ndj.3_Silent_p.P622P	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	622					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGTGCCATAGGGAAATGATG	0.488000														12			32		0	0	0.000680045	0	0
DMBT1	1755	broad.mit.edu	37	10	124402684	124402684	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:124402684C>T	uc001lgk.1	+	52	7118	c.7012C>T	c.(7012-7014)Cgc>Tgc	p.R2338C	DMBT1_uc001lgl.1_Missense_Mutation_p.R2328C|DMBT1_uc001lgm.1_Missense_Mutation_p.R1710C|DMBT1_uc021qaf.1_Missense_Mutation_p.R2338C|DMBT1_uc021qag.1_Missense_Mutation_p.R2328C|DMBT1_uc021qah.1_Missense_Mutation_p.R1710C|DMBT1_uc009xzz.1_Missense_Mutation_p.R2337C|DMBT1_uc010qtx.1_Missense_Mutation_p.R1058C|DMBT1_uc009yab.1_Missense_Mutation_p.R1041C|DMBT1_uc009yac.1_Missense_Mutation_p.R632C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2338	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCATCTCTTCGCATTGCCCG	0.567000														51			14		0	0	0.000132079	0	0
TRIML2	205860	broad.mit.edu	37	4	189012722	189012722	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:189012722G>A	uc011cle.1	-	7	1416	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	TRIML2_uc003izj.1_Silent_p.F151F|TRIML2_uc003izk.1_Silent_p.F131F|TRIML2_uc003izl.2_Silent_p.F323F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	323							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CGCAGTCAAGGAAAACGCCAA	0.532000														78			40		0	0	0.000270559	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117666	117666	+	RNA	SNP	G	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrGL000205.1:117666G>C	uc002kgk.4	+	0		c.1044G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGCGAGTTCAGAGCGTGGAGC	0.612000														8			3		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13776655	13776655	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:13776655G>A	uc003jfd.2	-	54	9308	c.9266C>T	c.(9265-9267)tCg>tTg	p.S3089L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3089	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3089L(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCACTGGCGAGAAGCAGAG	0.478000									Kartagener syndrome					49			26		0	0	0.000720815	0	0
VIP	7432	broad.mit.edu	37	6	153076403	153076403	+	Splice_Site	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:153076403G>A	uc003qpe.3	+	4	403	c.231_splice	c.e4-1	p.R77_splice	VIP_uc003qpf.3_Splice_Site_p.R77_splice|VIP_uc010kjd.3_Splice_Site_p.R77_splice	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	77					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CCTTGTTTTAGAAATGCCAGG	0.323000														27			24		0	0	0.000586117	0	0
XDH	7498	broad.mit.edu	37	2	31600037	31600037	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:31600037C>T	uc002rnv.1	-	13	1388	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	437					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACTCTCATGCCACTGGTTACC	0.512000														66			9		0	0	0.000442599	0	0
SIRPG	55423	broad.mit.edu	37	20	1629866	1629866	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:1629866C>T	uc002wfm.1	-	1	327	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SIRPG_uc002wfn.1_Missense_Mutation_p.V88I|SIRPG_uc002wfo.1_Missense_Mutation_p.V88I	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	88	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACTGTTGTTACCCTGGGGAAG	0.507000														147			6		0	0	3.59834e-05	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420352	110420352	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:110420352G>T	uc003yne.3	+	17	1992	c.1888G>T	c.(1888-1890)Gga>Tga	p.G630*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	630					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAAACCAAAGGAAAACCCAA	0.403000										HNSCC(38;0.096)				42			18		1.33834e-09	1.64714e-08	0.000958276	1	0
TPP2	7174	broad.mit.edu	37	13	103309445	103309446	+	Missense_Mutation	DNP	AC	TT	TT	rs140116320		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:103309445_103309446AC>TT	uc001vpi.4	+	23	3095_3096	c.2992_2993AC>TT	c.(2992-2994)aca>TTa	p.T998L		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	998					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCTCCACCAACAAAGACTAAG	0.312000														110			16		0	0	6.4e-05	0	0
PRSS1	5644	broad.mit.edu	37	7	142459664	142459664	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:142459664C>T	uc003wak.2	+	2	257	c.240C>T	c.(238-240)gtC>gtT	p.V80V	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.V20V	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	80	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACATCGAAGTCCTGGAGGGGA	0.542000														95			78		0	0	0.000781405	0	0
SI	6476	broad.mit.edu	37	3	164786967	164786967	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:164786967C>T	uc003fei.3	-	3	335	c.272G>A	c.(271-273)aGa>aAa	p.R91K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	91	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R91T(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGCAGCCTCTCTGTGCACA	0.358000										HNSCC(35;0.089)				22			4		0	0	3.59834e-05	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979192	6979192	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:6979192C>T	uc002gek.3	-	6	836	c.533G>A	c.(532-534)gGg>gAg	p.G178E	CLEC10A_uc002gej.3_Missense_Mutation_p.G154E|CLEC10A_uc010clv.2_Missense_Mutation_p.G151E	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	178					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCAGCAGGTCCCTTCAGTGGA	0.592000														32			17		0	0	0.00074312	0	0
C6	729	broad.mit.edu	37	5	41161815	41161815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:41161815G>A	uc003jmk.2	-	9	1648	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	C6_uc003jml.1_Missense_Mutation_p.P480S	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	480	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCACAGCAGGATTTTCCTTC	0.408000														62			10		0	0	0.000673444	0	0
APOB	338	broad.mit.edu	37	2	21236264	21236264	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:21236264G>A	uc002red.3	-	24	4112	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1328					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGCAGATGGAATCCCACAG	0.468000														274			137		0	0	0.000781405	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587386	42587386	+	Silent	SNP	T	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:42587386T>C	uc003xpi.1	+	4	1064	c.936T>C	c.(934-936)atT>atC	p.I312I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	312					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTCCATCATTGTTACCGTGT	0.438000														143			5		0	0	0.000602214	0	0
RYR2	6262	broad.mit.edu	37	1	237921070	237921071	+	Nonsense_Mutation	DNP	AC	GT	GT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:237921070_237921071AC>GT	uc001hyl.1	+	81	11439_11440	c.11319_11320AC>GT	c.(11317-11322)gtacag>gtGTag	p.Q3774*	RYR2_uc010pya.2_Nonsense_Mutation_p.Q189*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3774					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCCACAGTACAGCAGGTAAC	0.337000														49			21		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13762983	13762983	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:13762983C>G	uc003jfd.2	-	59	10171	c.10129G>C	c.(10129-10131)Gag>Cag	p.E3377Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3377	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTATCACCTCTTCATTGATT	0.368000									Kartagener syndrome					53			5		0	0	3.59834e-05	0	0
GLRA3	8001	broad.mit.edu	37	4	175710078	175710078	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:175710078C>T	uc003ity.1	-	1	591	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	GLRA3_uc003itz.1_Missense_Mutation_p.E30K	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	30					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTGTCTGTTTCCTTTGTGGCA	0.338000														26			13		0	0	0.000219431	0	0
KNDC1	85442	broad.mit.edu	37	10	135025254	135025254	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:135025254G>A	uc001llz.1	+	22	4129	c.4128G>A	c.(4126-4128)gaG>gaA	p.E1376E		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1376					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCGGGCCGAGGGCAACCCTC	0.667000														26			7		0	0	0.000157383	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Missense_Mutation	SNP	C	T	T	rs144099662	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:168726189C>T	uc021vsc.1	+	0	640	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	B3GALT1_uc002udz.1_Missense_Mutation_p.R214W	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000														43			14		0	0	0.000308642	0	0
SLX4	84464	broad.mit.edu	37	16	3641157	3641157	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:3641157C>T	uc002cvp.2	-	11	3109	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	828	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCGCTTCCTCCTCTTCATCT	0.458000								Direct reversal of damage						98			63		0	0	0.000781405	0	0
OTX1	5013	broad.mit.edu	37	2	63282748	63282748	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:63282748C>T	uc021vim.1	+	4	638	c.362C>T	c.(361-363)tCc>tTc	p.S121F	OTX1_uc002scd.3_Missense_Mutation_p.S121F|OTX1_uc010ypt.2_Missense_Mutation_p.S55F	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	121						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCTCGGGCTCCGAAAGCAGT	0.667000														25			5		0	0	3.59834e-05	0	0
DBX2	440097	broad.mit.edu	37	12	45410273	45410273	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:45410273G>A	uc001rok.1	-	3	988	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ATGGAGAAGGGAAACCCAGAG	0.483000														56			29		0	0	0.00106085	0	0
CIR1	9541	broad.mit.edu	37	2	175245530	175245530	+	Splice_Site	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:175245530A>G	uc002uim.3	-	4	345	c.252_splice	c.e4+1	p.E84_splice	CIR1_uc002uin.3_Splice_Site	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	84	Interaction with RBPJ.				RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ATAGTACTTTACCTCTTTGTT	0.244000														38			14		0	0	0.00074312	0	0
KDM4D	55693	broad.mit.edu	37	11	94731342	94731342	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:94731342G>A	uc021qow.1	+	0	806	c.806G>A	c.(805-807)gGa>gAa	p.G269E	KDM4D_uc001pfe.3_Missense_Mutation_p.G269E	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	269	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGAGGCTGGAGAGTTCATG	0.537000														74			34		0	0	0.000692331	0	0
DSG1	1828	broad.mit.edu	37	18	28906914	28906914	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:28906914C>T	uc002kwp.3	+	2	374	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	54	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.F54F(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGATCAAGTTCGCAGCAGCCT	0.393000														33			33		0	0	0.00058488	0	0
BTN1A1	696	broad.mit.edu	37	6	26508961	26508961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:26508961G>A	uc003nif.4	+	6	1197	c.1140G>A	c.(1138-1140)atG>atA	p.M380I		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	380	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAATGTGATGAAGAAAGGAT	0.557000														91			8		0	0	0.000274275	0	0
KLHL17	339451	broad.mit.edu	37	1	900534	900534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:900534C>T	uc001aca.2	+	11	1999	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	KLHL17_uc001acc.2_Non-coding_Transcript|PLEKHN1_uc001acd.3_5'Flank|PLEKHN1_uc001acf.3_5'Flank|PLEKHN1_uc001ace.3_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	631	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGCCGCCATCCTCCCCGACG	0.662000														16			17		0	0	0.000958276	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485276	97485276	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:97485276C>T	uc001vmw.3	+	1	1264	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	414						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAAGATCTCTTCCAGCA	0.587000														70			22		0	0	0.000295444	0	0
ZNF625	90589	broad.mit.edu	37	19	12257028	12257028	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:12257028C>T	uc010dyo.2	-	3	376	c.203G>A	c.(202-204)gGa>gAa	p.G68E	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.G2E|ZNF625_uc021upn.1_Missense_Mutation_p.G2E	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GAGTCTCTCTCCCATAAGACC	0.368000														42			7		0	0	0.000274275	0	0
PPYR1	5540	broad.mit.edu	37	10	47087185	47087185	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:47087185C>T	uc001jee.3	+	2	821	c.402C>T	c.(400-402)ctC>ctT	p.L134L	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.L134L|PPYR1_uc021ppu.1_Silent_p.L134L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	134					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CGCTCGTCCTCGTGGCCCTGG	0.567000														139			22		0	0	0.00106085	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270856	16270856	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:16270856delA	uc001axl.4	-	8	1549	c.1310delT	c.(1309-1311)ctgfs	p.L437fs	ZBTB17_uc010obs.2_Frame_Shift_Del_p.L361fs|ZBTB17_uc010obq.2_Frame_Shift_Del_p.L355fs|ZBTB17_uc010obr.2_Frame_Shift_Del_p.L437fs|ZBTB17_uc010obt.1_Frame_Shift_Del_p.L374fs|ZBTB17_uc010obu.2_Frame_Shift_Del_p.L393fs	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	437					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGTCTCCAGGTGGCGCAT	0.647													---	4	---	---	2	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:115537600_115537601insA	uc001efr.3	+	31	3100_3101	c.2891_2892insA	c.(2890-2892)agafs	p.R964fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.R939fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356													---	86	---	---	8	---					
DCP1A	55802	broad.mit.edu	37	3	53326674	53326675	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:53326674_53326675insA	uc021wzi.1	-	6	917_918	c.807_808insT	c.(805-810)cctcaafs	p.P269fs	DCP1A_uc021wzk.1_Frame_Shift_Ins_p.P231fs	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	269					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	p.Q270E(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTTTCTGATTGAGGGGCTCCTC	0.530													---	13	---	---	6	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													---	4	---	---	3	---					
