Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BAI2	576	broad.mit.edu	37	1	32203837	32203837	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:32203837G>A	ENST00000373658.3	-	18	3077	c.2736C>T	c.(2734-2736)tcC>tcT	p.S912S	BAI2_ENST00000257070.4_Silent_p.S912S|BAI2_ENST00000398547.1_Silent_p.S845S|BAI2_ENST00000398542.1_Silent_p.S845S|BAI2_ENST00000398538.1_Silent_p.S900S|BAI2_ENST00000373655.2_Silent_p.S912S|BAI2_ENST00000440175.2_Silent_p.S554S|BAI2_ENST00000398556.3_Silent_p.S860S|BAI2_ENST00000527361.1_Silent_p.S912S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	912	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGCAAAGGTGGACAGGTGCT	0.612000													8	31					0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226109641	226109641	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:226109641T>A	ENST00000343818.6	-	4	605	c.457A>T	c.(457-459)Atg>Ttg	p.M153L	RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	153					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	ACGCTGCTCATGAGCTGCTCC	0.627000													15	31					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139180268	139180268	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:139180268G>T	ENST00000395297.1	-	12	1298	c.1128C>A	c.(1126-1128)tcC>tcA	p.S376S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	376										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGATATCCAGGGACAGCTGGC	0.597000										HNSCC(54;0.14)			15	85					3.41278e-10	5.73177e-10	1	1	0
PERP	64065	broad.mit.edu	37	6	138428378	138428378	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:138428378C>A	ENST00000421351.3	-	1	270	c.100G>T	c.(100-102)Ggc>Tgc	p.G34C		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	34					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TGCAACCAGCCGCGGCCGGCC	0.687000													13	59					9.05144e-12	1.60374e-11	1	1	0
B3GAT2	135152	broad.mit.edu	37	6	71603914	71603914	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:71603914T>C	ENST00000230053.6	-	2	1261	c.653A>G	c.(652-654)gAa>gGa	p.E218G		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	218					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CAGCGGACGTTCGTAGCGCCG	0.552000													7	55					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400778	195400778	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:195400778C>A	ENST00000445430.1	+	0	1374																											ATGGTGTCAACCGCCTCGGGG	0.607000													7	29					0.00198382	0.00224067	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20693591	20693591	+	Silent	SNP	G	G	T	rs143258524		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:20693591G>T	ENST00000307493.4	-	3	665	c.598C>A	c.(598-600)Cga>Aga	p.R200R	ACSM1_ENST00000520010.1_Silent_p.R200R|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	200					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ACCAGCGATCGGAAGTCCAGC	0.507000													9	51					1.12685e-05	1.46718e-05	1	1	0
CHRM3	1131	broad.mit.edu	37	1	240071680	240071680	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:240071680G>T	ENST00000255380.4	+	5	1708	c.929G>T	c.(928-930)cGc>cTc	p.R310L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	310					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAGTATGGCCGCTGCCACTTC	0.522000													13	36					1.36491e-13	2.55254e-13	1	1	0
SENP7	57337	broad.mit.edu	37	3	101059014	101059014	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:101059014C>A	ENST00000394095.2	-	16	2335	c.2282G>T	c.(2281-2283)gGa>gTa	p.G761V	SENP7_ENST00000348610.3_Missense_Mutation_p.G728V|SENP7_ENST00000394094.2_Missense_Mutation_p.G696V|SENP7_ENST00000314261.7_Missense_Mutation_p.G695V|SENP7_ENST00000394091.1_Missense_Mutation_p.G597V|SENP7_ENST00000358203.3_Missense_Mutation_p.G597V	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	761	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTAGTTACTCCTAATCCCCC	0.303000													5	34					8.12818e-05	9.91291e-05	1	1	0
ADAM12	8038	broad.mit.edu	37	10	127755359	127755359	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:127755359C>A	ENST00000368679.4	-	13	1658	c.1349G>T	c.(1348-1350)tGc>tTc	p.C450F	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.C450F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	450	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGCATTGCAGCAGCGATTCAT	0.522000													7	39					8.12818e-05	9.91291e-05	1	1	0
APOB	338	broad.mit.edu	37	2	21230450	21230450	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:21230450T>C	ENST00000233242.1	-	26	9417	c.9290A>G	c.(9289-9291)aAg>aGg	p.K3097R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3097					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)	TTGGTTGTACTTATACTGATT	0.398000													34	112					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207748993	207748993	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:207748993C>A	ENST00000367049.4	+	28	4505	c.4505C>A	c.(4504-4506)gCc>gAc	p.A1502D	RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.A1052D|CR1_ENST00000367051.1_Missense_Mutation_p.A1052D|CR1_ENST00000367052.1_Missense_Mutation_p.A1052D|CR1_ENST00000400960.2_Missense_Mutation_p.A1052D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1052	Sushi 23.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCAATACTGCCCATTGGAGC	0.443000													73	273					1.8615e-32	3.85021e-32	1	1	0
VCAN	1462	broad.mit.edu	37	5	82835668	82835668	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:82835668A>G	ENST00000265077.3	+	8	7411	c.6846A>G	c.(6844-6846)acA>acG	p.T2282T	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.T1295T|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2282	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAATAACACATTATATCCCC	0.388000													11	77					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37188828	37188828	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:37188828C>A	ENST00000338564.5	-	11	1483		c.e11+1		MEIS2_ENST00000444725.1_Splice_Site|MEIS2_ENST00000561208.1_Splice_Site|MEIS2_ENST00000382766.2_Splice_Site|MEIS2_ENST00000559085.1_Splice_Site|MEIS2_ENST00000340545.5_Splice_Site|MEIS2_ENST00000424352.2_Splice_Site|MEIS2_ENST00000397620.2_Splice_Site|MEIS2_ENST00000397624.3_Splice_Site|MEIS2_ENST00000559408.1_Splice_Site|MEIS2_ENST00000559561.1_Splice_Site|MEIS2_ENST00000219869.9_Splice_Site|MEIS2_ENST00000557796.2_Splice_Site	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2						negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TTGGAACTTGCCTGCTCGATT	0.403000													12	96					1.49906e-05	1.92643e-05	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21793437	21793437	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:21793437G>C	ENST00000206660.6	+	15	2262	c.2262G>C	c.(2260-2262)ctG>ctC	p.L754L	RPGRIP1_ENST00000557771.1_Silent_p.L716L|RPGRIP1_ENST00000307974.4_Silent_p.L113L|RPGRIP1_ENST00000400017.2_Silent_p.L754L|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_3'UTR			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	754					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)		GGATGAGGCTGCGTTTCCCCA	0.542000													4	35					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156621281	156621281	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:156621281C>G	ENST00000329117.4	+	7	1433	c.1097C>G	c.(1096-1098)tCc>tGc	p.S366C	BCAN_ENST00000361588.5_Missense_Mutation_p.S366C|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	366					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGgcctccaacccagcc	0.587000													6	58					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080811	178080811	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:178080811G>T	ENST00000411529.2	+	4	433	c.382G>T	c.(382-384)Ggc>Tgc	p.G128C	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G150C|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G150C	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	150	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TGAAAAGTATGGCAAGATTGA	0.333000													10	45					1.58986e-06	2.19736e-06	1	1	0
POTEF	728378	broad.mit.edu	37	2	130877917	130877917	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:130877917T>A	ENST00000357462.5	-	1	265	c.172A>T	c.(172-174)Agg>Tgg	p.R58W	POTEF_ENST00000409914.2_Missense_Mutation_p.R58W|POTEF_ENST00000360967.5_Missense_Mutation_p.R58W|POTEF_ENST00000361163.4_Missense_Mutation_p.R58W			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	58						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATCTTGCTCCTGAGTGTCTTC	0.617000													44	323					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124191287	124191287	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:124191287A>T	ENST00000303372.5	+	16	1912	c.1784A>T	c.(1783-1785)aAc>aTc	p.N595I	TCTN2_ENST00000426174.2_Missense_Mutation_p.N594I	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	595					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCCTCAGTGAACTGGCAGTAC	0.488000													21	82					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78262066	78262066	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:78262066C>T	ENST00000582970.1	+	4	857	c.714C>T	c.(712-714)gcC>gcT	p.A238A	RNF213_ENST00000508628.2_Silent_p.A287A|RNF213_ENST00000456466.1_Silent_p.A238A|RNF213_ENST00000319921.4_Silent_p.A238A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	238										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGATGCTGCCCAGGAGCTCC	0.632000													11	89					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526160	189526160	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:189526160A>T	ENST00000264731.3	+	4	513	c.424A>T	c.(424-426)Agc>Tgc	p.S142C	TP63_ENST00000437221.1_Missense_Mutation_p.S48C|TP63_ENST00000456148.1_Missense_Mutation_p.S48C|TP63_ENST00000392460.3_Missense_Mutation_p.S142C|TP63_ENST00000320472.5_Missense_Mutation_p.S142C|TP63_ENST00000440651.2_Missense_Mutation_p.S142C|TP63_ENST00000449992.1_Intron|TP63_ENST00000354600.5_Missense_Mutation_p.S48C|TP63_ENST00000418709.2_Missense_Mutation_p.S142C|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.S48C|TP63_ENST00000392461.3_Missense_Mutation_p.S48C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	142					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCGCAGAACAGCGTCACGGC	0.627000										HNSCC(45;0.13)			11	81					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957209	33957209	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:33957209G>T	ENST00000361328.3	+	6	1504	c.1351G>T	c.(1351-1353)Gca>Tca	p.A451S	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A397S	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	451					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAAGAAATGGCAGAAGACTG	0.582000													14	96					2.48551e-13	4.61327e-13	1	1	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52035424	52035424	+	RNA	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:52035424A>G	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595435.1_RNA																							GAGAGACAAAAGACTGCCAAA	0.408000													3	35					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502645	149502645	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:149502645G>T	ENST00000378016.2	+	0	8458							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCCAGGAGGAGCCCTGCAG	0.667000													7	46					0.00307968	0.00344432	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182773	57182773	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:57182773G>T	ENST00000504228.1	+	6	3210	c.3105G>T	c.(3103-3105)gcG>gcT	p.A1035A	KIAA1211_ENST00000541073.1_Silent_p.A1028A|KIAA1211_ENST00000264229.6_Silent_p.A1035A			Q6ZU35	K1211_HUMAN	KIAA1211	1035										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGAAGAGGCGACAGAGAGGA	0.632000													4	19					0.00909568	0.00987474	1	1	0
DNM1	1759	broad.mit.edu	37	9	131004603	131004603	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:131004603G>T	ENST00000341179.7	+	15	1742	c.1650G>T	c.(1648-1650)ctG>ctT	p.L550L	DNM1_ENST00000475805.1_Silent_p.L550L|DNM1_ENST00000372923.3_Silent_p.L550L|DNM1_ENST00000486160.1_Silent_p.L550L|DNM1_ENST00000393594.3_Silent_p.L550L|DNM1_ENST00000493925.1_3'UTR	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	550	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTGAGAATCTGTCCTGGTACA	0.552000													5	32					1.23904e-05	1.602e-05	1	1	0
SLC4A10	57282	broad.mit.edu	37	2	162760562	162760562	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:162760562C>A	ENST00000375514.5	+	13	1721	c.1434C>A	c.(1432-1434)ttC>ttA	p.F478L	SLC4A10_ENST00000446997.1_Missense_Mutation_p.F497L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.F497L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F467L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.F467L|SLC4A10_ENST00000535165.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	497					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCCATACTTCTGGAGTGACT	0.413000													5	15					0.000602214	0.000697722	1	1	0
SLTM	79811	broad.mit.edu	37	15	59172239	59172239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:59172239C>A	ENST00000380516.2	-	21	3151	c.3064G>T	c.(3064-3066)Gga>Tga	p.G1022*	SLTM_ENST00000536328.1_Nonsense_Mutation_p.G591*	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	1022					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCTTAAATCCGGAGCCACTT	0.383000													8	70					0.000442599	0.000519695	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248525838	248525838	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248525838C>T	ENST00000366475.1	+	1	956	c.956C>T	c.(955-957)cCt>cTt	p.P319L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGTGAACCCTTTAATCTAT	0.458000													43	199					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928159	15928159	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:15928159C>A	ENST00000504595.1	+	3	769	c.288C>A	c.(286-288)ctC>ctA	p.L96L	FBXL7_ENST00000510662.1_Silent_p.L49L|FBXL7_ENST00000329673.7_Silent_p.L84L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	96					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGACCCGCCTCACACACCCGC	0.652000													5	35					0.014758	0.0158251	1	1	0
ACTL8	81569	broad.mit.edu	37	1	18152504	18152504	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:18152504C>G	ENST00000375406.1	+	3	807	c.591C>G	c.(589-591)tgC>tgG	p.C197W		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	197						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ATAGACGCTGCCTGTTTCAGC	0.592000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	29					0	0	1	0	0
TRAV17	28666	broad.mit.edu	37	14	22466256	22466256	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:22466256C>A	ENST00000390445.2	+	0	333																											CAGGTAGAGGCCTTGTCCACC	0.398000													11	68					0.000978159	0.00112538	1	1	0
LGALSL	29094	broad.mit.edu	37	2	64685537	64685537	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:64685537A>G	ENST00000238875.5	+	5	948	c.494A>G	c.(493-495)gAc>gGc	p.D165G	LGALSL_ENST00000409537.2_3'UTR	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	165	Galectin.					intracellular	sugar binding										ATAAATGGAGACCTCCAGATC	0.428000													18	169					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339996	55339996	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:55339996G>T	ENST00000314634.3	+	1	393	c.393G>T	c.(391-393)atG>atT	p.M131I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGCACTACATGACCATCATAA	0.498000													29	171					3.65163e-15	6.9966e-15	1	1	0
EDEM2	55741	broad.mit.edu	37	20	33703723	33703723	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:33703723C>A	ENST00000374492.3	-	11	1355	c.1250G>T	c.(1249-1251)cGa>cTa	p.R417L	EDEM2_ENST00000541621.1_Missense_Mutation_p.R196L|EDEM2_ENST00000542871.1_Missense_Mutation_p.R141L|EDEM2_ENST00000374491.2_Missense_Mutation_p.R380L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	417					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTGTGGTCTCGCAGATCTTT	0.488000													12	58					0.0167234	0.0179067	1	1	0
UBA6	55236	broad.mit.edu	37	4	68484845	68484845	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:68484845T>C	ENST00000322244.4	-	33	3088	c.3029A>G	c.(3028-3030)cAt>cGt	p.H1010R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	1010					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TACAAGTTTATGCATTCTAAG	0.348000													12	80					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247615100	247615100	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247615100G>C	ENST00000318749.6	-	1	208	c.185C>G	c.(184-186)cCc>cGc	p.P62R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P62H(1)|p.P62Q(1)		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)			GATGTACATGGGGCTGTGGAG	0.577000													15	162					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27389173	27389173	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:27389173C>A	ENST00000376087.4	-	1	248	c.83G>T	c.(82-84)gGc>gTc	p.G28V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G28V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	28	Poly-Gly.					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						CCCCGGCTCGCCCCCGCCTCC	0.667000													11	71					5.50884e-06	7.26833e-06	1	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810812	106810812	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:106810812C>A	ENST00000526355.1	-	4	1048	c.580G>T	c.(580-582)Ggc>Tgc	p.G194C	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G194C|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G194C	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	194					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TGCAAAGTGCCACCTACAGCT	0.393000													18	106					3.51602e-12	6.30502e-12	1	1	0
CWC25	54883	broad.mit.edu	37	17	36963205	36963205	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:36963205C>G	ENST00000225428.4	-	7	1012	c.715G>C	c.(715-717)Ggt>Cgt	p.G239R	CWC25_ENST00000536127.1_Missense_Mutation_p.G176R	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	239										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCCTGAAGACCCTGGTTACGG	0.512000													5	55					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127729049	127729049	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:127729049C>A	ENST00000508053.1	-	16	2218	c.1244G>T	c.(1243-1245)aGa>aTa	p.R415I	FBN2_ENST00000508989.1_Missense_Mutation_p.R382I|FBN2_ENST00000262464.4_Missense_Mutation_p.R415I			P35556	FBN2_HUMAN	fibrillin 2	415	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R415K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGCAAAGTCTGCGATATTC	0.478000													12	57					3.07112e-06	4.13291e-06	1	1	0
RELN	5649	broad.mit.edu	37	7	103206706	103206706	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:103206706G>A	ENST00000424685.2	-	33	5060	c.4901C>T	c.(4900-4902)tCt>tTt	p.S1634F	RELN_ENST00000428762.1_Missense_Mutation_p.S1634F|RELN_ENST00000343529.5_Missense_Mutation_p.S1634F			P78509	RELN_HUMAN	reelin	1634					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTATCCATAGAGAGACAGTC	0.353000													24	70					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100373991	100373991	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:100373991G>C	ENST00000273352.3	+	12	1960	c.1692G>C	c.(1690-1692)cgG>cgC	p.R564R	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Silent_p.R269R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	564					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTCTTCCTCGGCATTTCATTC	0.388000													19	118					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113965955	113965955	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:113965955C>T	ENST00000276198.1	+	4	1016	c.288C>T	c.(286-288)gcC>gcT	p.A96A	HTR2C_ENST00000371950.3_Silent_p.A96A|HTR2C_ENST00000371951.1_Silent_p.A96A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	96					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGTCCCTAGCCATTGCTGATA	0.398000													22	93					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871975	51871975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:51871975G>T	ENST00000371497.5	+	2	2865	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.E657*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.E657*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	660					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E660Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTGATGAAAGAGGGCAGCGA	0.597000													10	63					2.17888e-05	2.77601e-05	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247655204	247655204	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247655204G>T	ENST00000522351.1	+	0	835							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATCTACGTGTACCTGAAGC	0.522000													41	130					3.61848e-18	7.18367e-18	1	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213303156	213303156	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:213303156G>T	ENST00000366960.3	+	6	909	c.759G>T	c.(757-759)aaG>aaT	p.K253N	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.K72N|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.K241N	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	253					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTTAAAAAAGGAAGAAGAAG	0.383000													16	83					6.31663e-08	9.6374e-08	1	1	0
MMP11	4320	broad.mit.edu	37	22	24123440	24123440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:24123440G>T	ENST00000215743.3	+	6	971	c.919G>T	c.(919-921)Gag>Tag	p.E307*		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	307	Hemopexin-like 1.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CATCCGAGGCGAGCTCTTTTT	0.652000													14	72					3.27435e-08	5.04244e-08	1	1	0
OR5T1	390155	broad.mit.edu	37	11	56043668	56043668	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56043668A>T	ENST00000313033.2	+	1	640	c.554A>T	c.(553-555)gAa>gTa	p.E185V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGATCCAATGAAATTAGGCAT	0.408000													37	239					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793385	65793385	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:65793385C>A	ENST00000312106.5	-	1	603	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	156	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAATTCTCACCGAGATATTGG	0.567000													5	59					0.000602214	0.000697722	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84455166	84455166	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:84455166G>T	ENST00000377084.2	-	1	1362	c.477C>A	c.(475-477)ctC>ctA	p.L159L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	159						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATTTAAAATGAGCACCTCCA	0.507000													14	78					1.5842e-08	2.49402e-08	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1798333	1798333	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:1798333C>T	ENST00000250894.4	+	7	1237	c.1080C>T	c.(1078-1080)gaC>gaT	p.D360D	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Silent_p.D360D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	360					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCGCCTGGACCGCACAGGAA	0.582000													9	31					0	0	1	0	0
MAPK12	6300	broad.mit.edu	37	22	50696672	50696672	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:50696672A>T	ENST00000215659.8	-	3	629	c.314_splice	c.e3+1	p.F105_splice	MAPK12_ENST00000395778.3_Splice_Site_p.L105_splice|MAPK12_ENST00000395780.1_Splice_Site_p.F25_splice|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	105	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCACTCACAAGTCCGTGAA	0.607000													4	54					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197366	8197366	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:8197366C>A	ENST00000162391.3	+	6	1774	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S210Y	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	210					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGCACAGGATCTGTGGATGGT	0.527000													25	103					6.36457e-07	9.10189e-07	1	1	0
PPP5C	5536	broad.mit.edu	37	19	46857126	46857126	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:46857126G>C	ENST00000012443.4	+	2	346	c.243G>C	c.(241-243)gcG>gcC	p.A81A	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	81					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ATGGCTACGCGCTGGGAGACG	0.602000													5	12					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355426	34355426	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:34355426C>A	ENST00000383263.5	+	3	1178	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	CHRM5_ENST00000557872.1_Missense_Mutation_p.Q170K	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	170					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CCTCTGCTGGCAGTACTTGGT	0.552000													32	150					1.7881e-09	2.92043e-09	1	1	0
TBR1	10716	broad.mit.edu	37	2	162273325	162273325	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:162273325C>A	ENST00000389554.3	+	1	721	c.404C>A	c.(403-405)cCc>cAc	p.P135H		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	135						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCGGCGCACCCCGCCTTCTCC	0.667000													32	132					5.09552e-08	7.79841e-08	1	1	0
OR2L3	391192	broad.mit.edu	37	1	248224509	248224509	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248224509T>A	ENST00000359959.3	+	1	526	c.526T>A	c.(526-528)Ttc>Atc	p.F176I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCAATCATTTCTTCTGTGA	0.473000													44	155					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831522	176831522	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:176831522G>T	ENST00000253496.3	-	8	826	c.778C>A	c.(778-780)Ctg>Atg	p.L260M		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	260	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCCGCCCAGTCCCCAGTTC	0.756000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					1	1	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154394946	154394946	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:154394946C>T	ENST00000435029.4	+	1	1687	c.1527C>T	c.(1525-1527)gaC>gaT	p.D509D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	509					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTCTTCTGACGCTTTTACCA	0.483000													20	91					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240976921	240976921	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:240976921G>T	ENST00000366565.1	-	13	1334	c.953C>A	c.(952-954)gCa>gAa	p.A318E	RGS7_ENST00000348120.2_Missense_Mutation_p.A265E|RGS7_ENST00000407727.1_Missense_Mutation_p.A318E|RGS7_ENST00000366562.4_Missense_Mutation_p.A318E|RGS7_ENST00000331110.7_Missense_Mutation_p.A292E|RGS7_ENST00000446183.2_Missense_Mutation_p.A234E|RGS7_ENST00000366563.1_Missense_Mutation_p.A318E|RGS7_ENST00000366564.1_Missense_Mutation_p.A318E|RGS7_ENST00000401882.1_Missense_Mutation_p.A265E	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	318					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CACCTACCTTGCCTCAAGTTC	0.428000													12	43					9.31168e-06	1.22314e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237730017	237730017	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:237730017G>T	ENST00000366574.2	+	28	3682	c.3365G>T	c.(3364-3366)tGt>tTt	p.C1122F	RYR2_ENST00000360064.6_Missense_Mutation_p.C1120F|RYR2_ENST00000542537.1_Missense_Mutation_p.C1106F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1122	4 X approximate repeats.|B30.2/SPRY 2.				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)			CGTCCTGGTTGTCAACCGGAT	0.537000													28	275					1.08052e-11	1.90536e-11	1	1	0
PRSS37	136242	broad.mit.edu	37	7	141536288	141536288	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:141536288G>A	ENST00000350549.3	-	5	986	c.615C>T	c.(613-615)atC>atT	p.I205I	PRSS37_ENST00000438520.1_Silent_p.I205I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	205	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GCCCCACCTCGATTCCCTGGA	0.502000													12	80					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30726139	30726139	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:30726139G>C	ENST00000361762.2	+	1	4103	c.3095G>C	c.(3094-3096)gGa>gCa	p.G1032A	PCDH7_ENST00000543491.1_Missense_Mutation_p.G1032A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1032					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACATTTGTGGGAGCAGGAGAC	0.448000													13	61					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310102	56310102	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56310102G>T	ENST00000528616.2	-	1	655	c.632C>A	c.(631-633)aCc>aAc	p.T211N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CAAGACGATGGTGAGGGAGCT	0.502000													7	70					0.0293803	0.0309453	1	1	0
AGGF1	55109	broad.mit.edu	37	5	76359005	76359005	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:76359005A>G	ENST00000312916.7	+	14	2455	c.2073A>G	c.(2071-2073)gaA>gaG	p.E691E		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	691					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGTTTACTGAAAACTTCCCAG	0.433000													27	132					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14291249	14291249	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:14291249G>T	ENST00000344204.4	+	5	989	c.965G>T	c.(964-966)cGg>cTg	p.R322L	TRIO_ENST00000509967.2_Missense_Mutation_p.R273L|TRIO_ENST00000537187.1_Missense_Mutation_p.R322L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	322					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACTCGACACGGCAGCATCTG	0.557000													12	65					1.5842e-08	2.49402e-08	1	1	0
MAGEB10	139422	broad.mit.edu	37	X	27839625	27839625	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:27839625C>A	ENST00000356790.2	+	3	447	c.202C>A	c.(202-204)Caa>Aaa	p.Q68K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	68				Q -> R (in Ref. 1; BAB71522).						NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TCGGGAAGCCCAATCCACCAG	0.502000													5	28					0.217242	0.220363	1	1	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510182	77510182	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:77510182C>A	ENST00000477717.1	+	3	790	c.555C>A	c.(553-555)gtC>gtA	p.V185V		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	185					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGCCAGGTCTACAACAACC	0.602000													15	134					7.93312e-07	1.11515e-06	1	1	0
BNC1	646	broad.mit.edu	37	15	83932667	83932667	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:83932667T>A	ENST00000345382.2	-	4	1421	c.1336A>T	c.(1336-1338)Acg>Tcg	p.T446S	BNC1_ENST00000569704.1_Missense_Mutation_p.T439S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	446					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCTGGGGACGTCACTGTGAAA	0.532000													6	89					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165546	151165546	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:151165546C>A	ENST00000282466.3	-	4	2222	c.2223G>T	c.(2221-2223)agG>agT	p.R741S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	741					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAATGCCTCCTATTCTCCC	0.463000													9	65					0.000442599	0.000519695	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299009	125299009	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:125299009G>T	ENST00000538699.1	-	2	979	c.899C>A	c.(898-900)tCc>tAc	p.S300Y	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S300Y	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	300										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTGATGGACAGGAGCCT	0.602000													18	117					3.32936e-07	4.81232e-07	1	1	0
VPS16	64601	broad.mit.edu	37	20	2841419	2841419	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:2841419G>T	ENST00000380445.3	+	6	612	c.540G>T	c.(538-540)tgG>tgT	p.W180C	VPS16_ENST00000380469.3_Missense_Mutation_p.W180C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	180					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCTCCTGCTGGACTGTGCTGT	0.577000													10	32					7.48243e-07	1.05882e-06	1	1	0
CAPSL	133690	broad.mit.edu	37	5	35921198	35921198	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:35921198G>T	ENST00000397367.2	-	2	151	c.25C>A	c.(25-27)Cga>Aga	p.R9R	CAPSL_ENST00000514524.1_Silent_p.R9R|CAPSL_ENST00000397366.1_Silent_p.R9R	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	9						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GCCATCTCTCGGTCATGGCGC	0.612000													6	40					5.9392e-07	8.50177e-07	1	1	0
NUCB2	4925	broad.mit.edu	37	11	17316912	17316912	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:17316912G>A	ENST00000529010.1	+	3	261	c.42G>A	c.(40-42)ttG>ttA	p.L14L	NUCB2_ENST00000458064.2_Silent_p.L14L|NUCB2_ENST00000323688.6_Silent_p.L14L	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	14						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCTTTCTCTTGATTACATGTT	0.363000													30	172					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606084	21606084	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:21606084C>A	ENST00000281523.2	-	3	776	c.258G>T	c.(256-258)caG>caT	p.Q86H	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	86						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TAAATCTCAACTGGCAAATGT	0.343000													8	60					3.09899e-07	4.50568e-07	1	1	0
DET1	55070	broad.mit.edu	37	15	89079563	89079563	+	Translation_Start_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:89079563C>A	ENST00000564406.1	-	2	163	c.3G>T	c.(1-3)atG>atT	p.M1I	DET1_ENST00000558413.1_Intron|DET1_ENST00000559656.1_Intron|DET1_ENST00000444300.1_Start_Codon_SNP_p.M1I|DET1_ENST00000268148.8_Intron	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	0						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			tctgtcccaccataccagaga	0.378000													3	15					0.00909568	0.00987474	1	1	0
OR10K1	391109	broad.mit.edu	37	1	158435410	158435410	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158435410T>G	ENST00000289451.2	+	1	139	c.59T>G	c.(58-60)cTg>cGg	p.L20R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTCATCCCTGGCCAGGCTG	0.507000													9	117					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484796	26484796	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:26484796C>A	ENST00000311151.5	+	6	1018	c.606C>A	c.(604-606)ggC>ggA	p.G202G	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Silent_p.G166G|DPYSL2_ENST00000521913.1_Silent_p.G166G	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	202					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.G202G(2)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CAGAAAATGGCGACATCATTG	0.498000													9	33					7.48243e-07	1.05882e-06	1	1	0
ZNF117	51351	broad.mit.edu	37	7	64439642	64439642	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:64439642G>A	ENST00000282869.5	-	4	1591	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TTTTCAGTATGTCTCATCTTG	0.269000													7	23					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789901	80789901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:80789901C>A	ENST00000269394.3	-	2	1263	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	144						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGGCGGCTTCCGGAGCTGGG	0.647000													13	38					1.49906e-05	1.92643e-05	1	1	0
FNDC3B	64778	broad.mit.edu	37	3	172080423	172080423	+	Splice_Site	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:172080423G>C	ENST00000336824.4	+	23	2895	c.2795_splice	c.e23-1	p.R932_splice	FNDC3B_ENST00000415807.2_Splice_Site_p.R932_splice|FNDC3B_ENST00000416957.1_Splice_Site_p.R932_splice	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	932	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTTCTCTAGGATCAGAATTC	0.368000													24	86					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62398635	62398635	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:62398635C>T	ENST00000346178.4	-	11	1098	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	GANAB_ENST00000356638.3_Missense_Mutation_p.M339I|GANAB_ENST00000534779.1_Missense_Mutation_p.M247I|GANAB_ENST00000540933.1_Missense_Mutation_p.M242I	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	339					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GCAGGTAGTCCATCATCTTCC	0.532000													36	298					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6145947	6145947	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:6145947C>A	ENST00000264870.3	-	15	2369	c.2104G>T	c.(2104-2106)Ggg>Tgg	p.G702W		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	702					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCGATGCCCAGAGACCCAG	0.547000													30	90					3.69857e-22	7.52397e-22	1	1	0
IARS	3376	broad.mit.edu	37	9	95012222	95012222	+	Splice_Site	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:95012222T>C	ENST00000375643.3	-	25	2800	c.2532_splice	c.e25-1	p.Y845_splice	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Splice_Site_p.Y845_splice|IARS_ENST00000447699.2_Splice_Site_p.Y735_splice	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	845					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTTCAAAGGATACTAGGAGGA	0.363000													32	146					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601240	123601240	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:123601240C>T	ENST00000336139.4	-	3	719	c.357G>A	c.(355-357)acG>acA	p.T119T	ZNF202_ENST00000530393.1_Silent_p.T119T|ZNF202_ENST00000529691.1_Silent_p.T119T			O95125	ZN202_HUMAN	zinc finger protein 202	119	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTCCACCAGCGTCACTGCCT	0.577000													18	103					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152558069	152558069	+	Silent	SNP	C	C	A	rs61729925		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:152558069C>A	ENST00000367255.5	-	109	20683	c.20082G>T	c.(20080-20082)ctG>ctT	p.L6694L	SYNE1_ENST00000265368.4_Silent_p.L6694L|SYNE1_ENST00000423061.1_Silent_p.L6623L|SYNE1_ENST00000448038.1_Silent_p.L6623L|SYNE1_ENST00000356820.4_Silent_p.L1218L|SYNE1_ENST00000341594.5_Silent_p.L6306L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6694					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCCTCATCCAGATGGGACC	0.517000										HNSCC(10;0.0054)			4	36					0.00024832	0.000296266	1	1	0
SLC14A1	6563	broad.mit.edu	37	18	43316485	43316485	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:43316485C>A	ENST00000321925.4	+	6	767	c.535C>A	c.(535-537)Cct>Act	p.P179T	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P47T|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P235T|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P74T|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P179T|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P235T|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P179T|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P71T|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	179						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTTCACCCTCCCTTTCAACAT	0.428000													15	112					4.7546e-09	7.61455e-09	1	1	0
SCARA3	51435	broad.mit.edu	37	8	27516099	27516099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:27516099G>T	ENST00000301904.3	+	5	432	c.412G>T	c.(412-414)Gga>Tga	p.G138*	SCARA3_ENST00000337221.4_Nonsense_Mutation_p.G138*	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	138					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGAGCTGGAGGGAATTCAGAA	0.572000													23	104					2.98393e-07	4.35548e-07	1	1	0
LINC00922	283867	broad.mit.edu	37	16	65345347	65345347	+	RNA	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:65345347C>G	ENST00000569736.1	-	0	788				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						TGCCTGGAAGCCCATGCCTTC	0.438000													11	117					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520436	129520436	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:129520436G>T	ENST00000305031.4	+	3	1959	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	534						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCCATGCACGGGGTGGAGTAC	0.463000													15	65					7.93312e-07	1.11515e-06	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157504641	157504641	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:157504641C>A	ENST00000361835.3	-	8	1601	c.1444G>T	c.(1444-1446)Gcc>Tcc	p.A482S	FCRL5_ENST00000368189.3_Missense_Mutation_p.A482S|FCRL5_ENST00000356953.4_Missense_Mutation_p.A482S|FCRL5_ENST00000368190.3_Missense_Mutation_p.A482S|FCRL5_ENST00000368191.3_Missense_Mutation_p.A397S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	482	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AAAGTCAGGGCCTCAGCAGAG	0.478000													11	72					0.38729	0.390184	1	1	0
MTERFD1	51001	broad.mit.edu	37	8	97270750	97270750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:97270750C>A	ENST00000523821.1	-	2	288	c.169G>T	c.(169-171)Gga>Tga	p.G57*	MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.G57*			Q96E29	MTER1_HUMAN	MTERF domain containing 1	57					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GTCTTAAATCCCCACTGGAGA	0.438000													17	133					0.000422831	0.000499251	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66475182	66475182	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:66475182G>A	ENST00000533211.1	-	13	1789	c.1458C>T	c.(1456-1458)gcC>gcT	p.A486A	SPTBN2_ENST00000529997.1_Silent_p.A486A|SPTBN2_ENST00000309996.2_Silent_p.A486A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	486					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGCAGCCACGGCGTCCACTG	0.662000													4	53					0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124033690	124033690	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:124033690C>A	ENST00000259512.4	-	6	803	c.503G>T	c.(502-504)gGc>gTc	p.G168V	DERL1_ENST00000405944.3_Missense_Mutation_p.G168V|DERL1_ENST00000519018.1_Missense_Mutation_p.G68V|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Missense_Mutation_p.G68V|DERL1_ENST00000523036.1_Missense_Mutation_p.G68V	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	168					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	p.G168V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CACTTACGAGCCTCCGATGAT	0.353000													17	97					1.99824e-07	2.95452e-07	1	1	0
NFASC	23114	broad.mit.edu	37	1	204943331	204943331	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:204943331C>A	ENST00000367172.4	+	13	1632	c.1304C>A	c.(1303-1305)cCc>cAc	p.P435H	NFASC_ENST00000539706.1_Missense_Mutation_p.P446H|NFASC_ENST00000339876.6_Missense_Mutation_p.P435H|NFASC_ENST00000360049.4_Missense_Mutation_p.P446H|NFASC_ENST00000338515.6_Missense_Mutation_p.P435H|NFASC_ENST00000367171.4_Missense_Mutation_p.P435H|NFASC_ENST00000367170.4_Missense_Mutation_p.P435H|NFASC_ENST00000367169.4_Missense_Mutation_p.P435H|NFASC_ENST00000401399.1_Missense_Mutation_p.P435H|NFASC_ENST00000338586.6_Missense_Mutation_p.P435H|NFASC_ENST00000513543.1_Missense_Mutation_p.P446H|NFASC_ENST00000404907.1_Missense_Mutation_p.P446H|NFASC_ENST00000403080.1_Missense_Mutation_p.P435H|NFASC_ENST00000404076.1_Missense_Mutation_p.P429H			O94856	NFASC_HUMAN	neurofascin	435	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATGCTGTCGCCCCGGAACCAG	0.557000													8	19					1.26484e-09	2.07267e-09	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503192	140503192	+	Missense_Mutation	SNP	C	C	A	rs147115754	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140503192C>A	ENST00000194152.1	+	1	1612	c.1612C>A	c.(1612-1614)Ccg>Acg	p.P538T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		538	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGGTTCTCCGGCTTTGAG	0.667000													16	95					1.52009e-12	2.77281e-12	1	1	0
NID1	4811	broad.mit.edu	37	1	236195793	236195793	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:236195793T>C	ENST00000264187.6	-	6	1527	c.1445A>G	c.(1444-1446)tAt>tGt	p.Y482C	NID1_ENST00000366595.3_Missense_Mutation_p.Y482C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	482	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AAGCAGAGAATATCCAACGGT	0.512000													14	89					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228433199	228433199	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:228433199G>T	ENST00000570156.2	+	13	3917	c.3843G>T	c.(3841-3843)gaG>gaT	p.E1281D	OBSCN_ENST00000422127.1_Missense_Mutation_p.E1189D|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1189D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	260	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGCTGTGAGGTGGCCCAGC	0.602000													11	75					5.50884e-06	7.26833e-06	1	1	0
OR4C46	119749	broad.mit.edu	37	11	51515725	51515725	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:51515725G>T	ENST00000328188.1	+	1	444	c.444G>T	c.(442-444)atG>atT	p.M148I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGGTGTGGATGGGAGGCTTTC	0.458000													23	149					3.10358e-05	3.93722e-05	1	1	0
CDH20	28316	broad.mit.edu	37	18	59221631	59221631	+	Silent	SNP	C	C	A	rs139351388		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:59221631C>A	ENST00000262717.4	+	12	2507	c.2109C>A	c.(2107-2109)ccC>ccA	p.P703P	CDH20_ENST00000538374.1_Silent_p.P703P|CDH20_ENST00000536675.2_Silent_p.P703P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	703					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACATGCTGCCCGAGATCGAGA	0.687000													22	60					1.96292e-10	3.32308e-10	1	1	0
ASTL	431705	broad.mit.edu	37	2	96789722	96789722	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:96789722A>T	ENST00000342380.2	-	9	1162	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	388					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CACTCCGGCCAGCCAGGACTG	0.637000													11	81					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309257	248309257	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248309257C>A	ENST00000366476.1	+	1	808	c.808C>A	c.(808-810)Cag>Aag	p.Q270K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCCCCTATGCAGGACAAGCT	0.512000													27	258					1.33986e-20	2.69243e-20	1	1	0
PRSS37	136242	broad.mit.edu	37	7	141536276	141536276	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:141536276G>T	ENST00000350549.3	-	5	998	c.627C>A	c.(625-627)caC>caA	p.H209Q	PRSS37_ENST00000438520.1_Missense_Mutation_p.H209Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	209	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CTCCCATGAAGTGCCCCACCT	0.507000													13	85					7.93312e-07	1.11515e-06	1	1	0
LAIR1	3903	broad.mit.edu	37	19	54868182	54868182	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:54868182G>C	ENST00000391743.3	-	5	727	c.447C>G	c.(445-447)ctC>ctG	p.L149L	LAIR1_ENST00000348231.4_Silent_p.L150L|LAIR1_ENST00000391742.2_Silent_p.L167L|LAIR1_ENST00000313038.6_Silent_p.L160L|LAIR1_ENST00000474878.1_Silent_p.L149L|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Silent_p.L166L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	167						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		AGACCCCGATGAGAATATACA	0.507000													13	53					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11581097	11581097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:11581097C>A	ENST00000423059.3	-	6	2022	c.1771G>T	c.(1771-1773)Gag>Tag	p.E591*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	591						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGACCACACTCCTTTCCGTTA	0.478000										HNSCC(18;0.044)			5	47					0.0215528	0.0228632	1	1	0
LVRN	206338	broad.mit.edu	37	5	115319087	115319087	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:115319087C>T	ENST00000357872.4	+	2	923	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		267					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AATGATTCATCATCCAAGTTA	0.393000													9	67					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49198014	49198014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:49198014C>A	ENST00000262013.7	-	1	212	c.4G>T	c.(4-6)Gag>Tag	p.E2*	SPAG9_ENST00000505279.1_Nonsense_Mutation_p.E2*|SPAG9_ENST00000357122.4_Nonsense_Mutation_p.E2*	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	2					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCCTCCAGCTCCATGGTGGCA	0.746000													5	10					0.014758	0.0158251	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78492531	78492531	+	Missense_Mutation	SNP	C	C	A	rs142569954	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:78492531C>A	ENST00000377211.4	-	2	600	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	EDNRB_ENST00000446573.1_Missense_Mutation_p.A60S|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000334286.5_Missense_Mutation_p.A60S	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	60					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCCAGACTGGCGTTGGAACCC	0.627000													14	49					1.5842e-08	2.49402e-08	1	1	0
UVSSA	57654	broad.mit.edu	37	4	1373847	1373847	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:1373847G>A	ENST00000389851.4	+	11	2028	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	UVSSA_ENST00000511563.1_Silent_p.Q78Q|UVSSA_ENST00000507531.1_Silent_p.Q527Q|UVSSA_ENST00000511216.1_Silent_p.Q527Q|UVSSA_ENST00000512728.1_Silent_p.Q78Q	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	527																	CTGACTCCCAGCACCGCTTCT	0.617000													3	15					0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34556332	34556332	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:34556332G>A	ENST00000378980.3	-	7	982	c.689C>T	c.(688-690)tCg>tTg	p.S230L	CNTFR_ENST00000351266.4_Missense_Mutation_p.S230L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	230	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGGCCAGGTCGAGGGGGTCTG	0.607000													4	17					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30946867	30946867	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:30946867T>C	ENST00000597505.1	-	21	2985	c.2986A>G	c.(2986-2988)Aga>Gga	p.R996G	DCDC1_ENST00000339794.5_Missense_Mutation_p.R75G|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	231					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGTTCATCTCTTTGCAGGTCT	0.343000													17	89					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89480348	89480348	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:89480348G>T	ENST00000336596.2	+	13	2410	c.2185G>T	c.(2185-2187)Ggg>Tgg	p.G729W	EPHA3_ENST00000494014.1_Missense_Mutation_p.G729W	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	729	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATGCTTCGAGGGATAGCATC	0.443000										TSP Lung(6;0.00050)			6	43					0.0293803	0.0309453	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31021429	31021429	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:31021429G>T	ENST00000375687.4	+	12	1852	c.1428G>T	c.(1426-1428)ctG>ctT	p.L476L	ASXL1_ENST00000306058.5_Silent_p.L471L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CACCCGACCTGGAGGGTCCCG	0.592000			"""F, N, Mis"""		"""MDS, CMML"""								30	139					5.77227e-19	1.14903e-18	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36874463	36874463	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:36874463G>T	ENST00000279024.4	-	2	340	c.69C>A	c.(67-69)gcC>gcA	p.A23A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	23										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGGTGCTGTGGCCTCGAAAG	0.617000													8	36					0.0381472	0.0400654	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50692613	50692613	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:50692613T>A	ENST00000404971.1	-	18	4790	c.3451A>T	c.(3451-3453)Atg>Ttg	p.M1151L	NRXN1_ENST00000405472.3_Missense_Mutation_p.M1103L|NRXN1_ENST00000401710.1_Missense_Mutation_p.M129L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.M1111L|NRXN1_ENST00000402717.3_Missense_Mutation_p.M1103L|NRXN1_ENST00000401669.2_Missense_Mutation_p.M1111L|NRXN1_ENST00000406859.3_Missense_Mutation_p.M1111L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1111	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGGAAGTCATACTACAGTCA	0.468000													3	24					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496214	9496214	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:9496214C>A	ENST00000246070.2	+	2	671	c.179C>A	c.(178-180)gCa>gAa	p.A60E	LAMP5_ENST00000427562.2_Missense_Mutation_p.A60E	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	60						integral to membrane											TGTCTCATGGCAGAGTTTGCA	0.473000													16	84					1.52009e-12	2.77281e-12	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140397390	140397390	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:140397390C>A	ENST00000286349.3	+	1	510	c.319C>A	c.(319-321)Cgc>Agc	p.R107S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	107						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCACAAGGGCCGCCTCAGGAG	0.547000													3	34					0.115264	0.119286	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179526078	179526078	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:179526078G>T	ENST00000467460.1	-	13	1830	c.1500C>A	c.(1498-1500)gcC>gcA	p.A500A	PEX5L_ENST00000485199.1_Silent_p.A465A|PEX5L_ENST00000476138.1_Silent_p.A457A|PEX5L_ENST00000472994.1_Silent_p.A441A|PEX5L_ENST00000468741.1_Silent_p.A308A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.A476A|PEX5L_ENST00000464614.1_Silent_p.A392A|PEX5L_ENST00000392649.3_Silent_p.A392A|PEX5L_ENST00000263962.8_Silent_p.A498A	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	500					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GAACAGTTAAGGCAGCGTTAA	0.448000													5	57					0.000602214	0.000697722	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	124979290	124979290	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:124979290G>C	ENST00000431078.1	+	2	455	c.91G>C	c.(91-93)Gat>Cat	p.D31H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	31	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGACAACTGTGATGATCCACT	0.443000													5	17					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324689	7324689	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:7324689C>T	ENST00000323675.3	+	3	720	c.695C>T	c.(694-696)gCg>gTg	p.A232V	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	232					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GAGGCAGAGGCGGCTCAGTAC	0.647000													10	32					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154785453	154785453	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:154785453C>G	ENST00000404141.1	-	3	397	c.243G>C	c.(241-243)caG>caC	p.Q81H	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q81H			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	81	BRCT 1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GAGTTCCACACTGAACGGACA	0.368000													3	16					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52133973	52133973	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:52133973C>A	ENST00000596288.1	-	13	2041	c.2014G>T	c.(2014-2016)Gcc>Tcc	p.A672S	MCM3_ENST00000229854.7_Missense_Mutation_p.A627S|MCM3_ENST00000419835.2_Missense_Mutation_p.A581S	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	627					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TTCGCATGGGCTGTGGCCAGT	0.512000													14	81					0.000219431	0.000264137	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160097606	160097606	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:160097606C>G	ENST00000327245.5	-	7	1385	c.539G>C	c.(538-540)tGc>tCc	p.C180S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	180					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATCTCATTGCATTTCATTTG	0.493000													28	133					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591173	86591173	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:86591173A>T	ENST00000370571.2	-	3	1212	c.846T>A	c.(844-846)gaT>gaA	p.D282E	COL24A1_ENST00000436319.1_Missense_Mutation_p.D282E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	282					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTAAATGTATCCTCTGACA	0.373000													14	107					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407103	38407103	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:38407103T>C	ENST00000322350.5	+	8	1348	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N	EGFLAM_ENST00000336740.6_Silent_p.N100N|EGFLAM_ENST00000354891.3_Silent_p.N334N|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	334						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGGGGAAGAATGGTGTGGCCA	0.542000													13	96					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099481	142099481	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142099481G>T	ENST00000390359.3	-	0	359																											AGAGATACACGGCGGAGTCCT	0.562000													8	76					1.58986e-06	2.19736e-06	1	1	0
MAEL	84944	broad.mit.edu	37	1	166990921	166990921	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:166990921G>T	ENST00000367872.4	+	12	1378	c.1134G>T	c.(1132-1134)agG>agT	p.R378S	MAEL_ENST00000367870.2_Missense_Mutation_p.R347S|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	378					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACCCATCTAGGGCAAAAATTT	0.378000													21	63					9.95505e-16	1.91235e-15	1	1	0
THBS2	7058	broad.mit.edu	37	6	169632152	169632152	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:169632152C>A	ENST00000366787.3	-	14	2323	c.2074G>T	c.(2074-2076)Ggg>Tgg	p.G692W	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	692	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAGTCCTCCCCGCAGATGAGC	0.662000													6	57					0.00116845	0.00133498	1	1	0
GABRP	2568	broad.mit.edu	37	5	170216196	170216196	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:170216196T>C	ENST00000518525.1	+	4	581	c.117T>C	c.(115-117)ccT>ccC	p.P39P	GABRP_ENST00000519385.1_Silent_p.P39P|GABRP_ENST00000265294.4_Silent_p.P39P|GABRP_ENST00000519598.1_Silent_p.P39P			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	39						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTCCCTGCCTGGCTTTGAGA	0.473000													11	62					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56674034	56674034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:56674034C>T	ENST00000431842.2	-	9	2480	c.1556G>A	c.(1555-1557)tGg>tAg	p.W519*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.W915*|FAM208A_ENST00000493960.2_Nonsense_Mutation_p.W915*	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	915										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AATCAGTTTCCAATGTATTTC	0.358000													6	28					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592539	167592539	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:167592539G>T	ENST00000366832.2	+	6	829	c.698G>T	c.(697-699)gGc>gTc	p.G233V		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	233										endometrium(1)|kidney(2)|lung(3)	6						AACTCCGGTGGCAGAAAATCA	0.597000													3	20					0.115264	0.119286	1	1	0
C6orf118	168090	broad.mit.edu	37	6	165715087	165715087	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:165715087C>A	ENST00000543069.1	-	2	993	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	C6orf118_ENST00000230301.8_Missense_Mutation_p.A242S			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	242										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGGCCCGCGGCCGCCTTGCTC	0.602000													6	64					1.26484e-09	2.07267e-09	1	1	0
FMO3	2328	broad.mit.edu	37	1	171076827	171076827	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:171076827C>A	ENST00000367755.4	+	4	444	c.333C>A	c.(331-333)tcC>tcA	p.S111S	FMO3_ENST00000392085.2_Silent_p.S111S|FMO3_ENST00000542847.1_Silent_p.S91S|FMO3_ENST00000538429.1_Silent_p.S48S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	111					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTGTATCCAGTGTAAATA	0.373000													12	81					5.16669e-11	8.97213e-11	1	1	0
SLC4A1	6521	broad.mit.edu	37	17	42330543	42330543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:42330543G>A	ENST00000262418.6	-	17	2409	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	752	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTGGATCTGGGCTGCAGCC	0.627000													10	63					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56357081	56357081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:56357081G>A	ENST00000370754.5	-	85	20607	c.20608C>T	c.(20608-20610)Caa>Taa	p.Q6870*	DST_ENST00000446842.2_Nonsense_Mutation_p.Q6366*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6692*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4278*|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.Q6581*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q4495*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4604*			Q03001	DYST_HUMAN	dystonin	6690					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCAACCGTTGAACCACTTTT	0.373000													14	61					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16177988	16177988	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:16177988A>T	ENST00000332432.8	-	2	739	c.540T>A	c.(538-540)ggT>ggA	p.G180G	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	180						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TCAACAACTCACCCTAAAAAG	0.428000													8	59					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934355	176934355	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:176934355T>C	ENST00000367654.2	-	9	1579	c.1566A>G	c.(1564-1566)atA>atG	p.I522M	ASTN1_ENST00000424564.2_Missense_Mutation_p.I514M|ASTN1_ENST00000361833.2_Missense_Mutation_p.I514M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.I514M			O14525	ASTN1_HUMAN	astrotactin 1	522					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCGCTGAAATATTGTGTAAG	0.418000													14	100					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219500599	219500599	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:219500599C>A	ENST00000450993.2	+	14	2316	c.1977C>A	c.(1975-1977)atC>atA	p.I659I	PLCD4_ENST00000432688.1_Silent_p.I691I|PLCD4_ENST00000417849.1_Silent_p.I659I	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	659	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGTGCAGATCTTTGGCGTTC	0.537000													6	34					2.7689e-08	4.30879e-08	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117075205	117075205	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:117075205C>A	ENST00000355044.3	+	18	3122	c.2996C>A	c.(2995-2997)cCc>cAc	p.P999H	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.P96H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	999	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCTTTGCCCCAAAGAAAAG	0.408000													17	85					3.52763e-06	4.73437e-06	1	1	0
TRIM54	57159	broad.mit.edu	37	2	27529120	27529120	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:27529120G>T	ENST00000296098.4	+	8	1302	c.1032G>T	c.(1030-1032)ccG>ccT	p.P344P	TRIM54_ENST00000380075.2_Silent_p.P302P	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	302					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGCGGCCGGAGCCAGGCT	0.652000													5	78					0.000602214	0.000697722	1	1	0
IFT172	26160	broad.mit.edu	37	2	27703016	27703016	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:27703016C>A	ENST00000260570.3	-	9	889	c.785_splice	c.e9-1	p.R262_splice	IFT172_ENST00000416524.2_Splice_Site_p.R241_splice|IFT172_ENST00000359466.6_Splice_Site_p.R262_splice	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	262					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACACCCGAAGCCTGAAATAAA	0.443000													7	46					0.00448238	0.00498677	1	1	0
PCYOX1L	78991	broad.mit.edu	37	5	148748018	148748018	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:148748018G>T	ENST00000514349.1	+	5	1595	c.1016G>T	c.(1015-1017)gGc>gTc	p.G339V	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.G429V			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	429					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCTATGGCTCCCGCCCC	0.622000													15	100					1.49906e-05	1.92643e-05	1	1	0
C7orf62	219557	broad.mit.edu	37	7	88423890	88423890	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:88423890C>G	ENST00000297203.2	-	2	552	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	123										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAAAAAATACTGTTTCATCT	0.348000													22	47					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33357257	33357257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:33357257C>A	ENST00000334528.9	-	2	1392	c.1393G>T	c.(1393-1395)Gag>Tag	p.E465*	FMN1_ENST00000558197.1_Nonsense_Mutation_p.E465*|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000559047.1_Nonsense_Mutation_p.E688*	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	688	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCCTGCTCAGTCAGGCTG	0.468000													18	111					0.000566183	0.00066323	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137928360	137928360	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:137928360A>G	ENST00000409968.1	+	7	1753	c.1575A>G	c.(1573-1575)gcA>gcG	p.A525A	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.A494A|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.A525A					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGGCCTGCAGGGCATTGCC	0.468000													12	54					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972945	69972945	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:69972945G>T	ENST00000305231.7	+	4	1101	c.1055G>T	c.(1054-1056)cGg>cTg	p.R352L	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.R352L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	352					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAATACTCGGCTCTACAAG	0.353000													40	115					1.51926e-22	3.09911e-22	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121694040	121694040	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:121694040T>C	ENST00000393386.2	+	26	6740	c.6329T>C	c.(6328-6330)aTa>aCa	p.I2110T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I1243T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2110	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGAGGATGATATGGGACCAT	0.428000													29	159					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20876546	20876546	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:20876546C>A	ENST00000556948.1	-	0	54																											AGGTATTTTGCAAAAGATAAA	0.338000													4	40					0.00909568	0.00987474	1	1	0
GLI2	2736	broad.mit.edu	37	2	121747365	121747365	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:121747365C>A	ENST00000452319.1	+	14	3935	c.3875C>A	c.(3874-3876)cCc>cAc	p.P1292H	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1292H			P10070	GLI2_HUMAN	GLI family zinc finger 2	1292					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCTGACCCCACCACGATG	0.632000													8	34					5.18039e-06	6.86552e-06	1	1	0
EDIL3	10085	broad.mit.edu	37	5	83525697	83525697	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:83525697C>T	ENST00000296591.5	-	3	620	c.202G>A	c.(202-204)Gat>Aat	p.D68N	EDIL3_ENST00000380138.3_Intron	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	68					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCTTCTTCATCTGATGCTATG	0.383000													7	49					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096452	51096452	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:51096452C>G	ENST00000395542.2	-	12	2771	c.2587G>C	c.(2587-2589)Ggc>Cgc	p.G863R	COBL_ENST00000265136.7_Missense_Mutation_p.G781R			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	781										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GAGGGTCGGCCCAGGTGTTTT	0.577000													9	60					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900127	112900127	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:112900127G>T	ENST00000374530.3	+	8	2483	c.2303G>T	c.(2302-2304)gGa>gTa	p.G768V	AKAP2_ENST00000555236.1_Missense_Mutation_p.G768V|AKAP2_ENST00000510514.5_Missense_Mutation_p.G768V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G768V|AKAP2_ENST00000434623.2_Missense_Mutation_p.G626V|AKAP2_ENST00000374525.1_Missense_Mutation_p.G626V|AKAP2_ENST00000259318.7_Missense_Mutation_p.G537V	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		537							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAGGGCCGAGGAGAAGGCGTC	0.532000													13	74					2.61681e-11	4.57095e-11	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10610475	10610475	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:10610475C>G	ENST00000171111.5	-	2	782	c.235G>C	c.(235-237)Gtc>Ctc	p.V79L	KEAP1_ENST00000393623.2_Missense_Mutation_p.V79L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	79	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGCAGTGTGACGTCACACAGC	0.597000													13	63					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66478175	66478175	+	Silent	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:66478175C>G	ENST00000533211.1	-	10	1282	c.951G>C	c.(949-951)ctG>ctC	p.L317L	SPTBN2_ENST00000529997.1_Silent_p.L317L|SPTBN2_ENST00000309996.2_Silent_p.L317L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	317					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCACTGCAGCAGCTCCGAGG	0.607000													8	39					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513170	106513170	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:106513170G>T	ENST00000359195.3	+	4	2384	c.2074G>T	c.(2074-2076)Ggt>Tgt	p.G692C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.G692C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G692C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	692					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAAAGAATTGGTCACTTTTT	0.413000													57	64					4.33383e-22	8.80421e-22	1	1	0
RAVER2	55225	broad.mit.edu	37	1	65234364	65234364	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:65234364A>C	ENST00000294428.3	+	2	353	c.275A>C	c.(274-276)tAt>tCt	p.Y92S	RAVER2_ENST00000371072.4_Missense_Mutation_p.Y92S			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	92	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTAAAAGACTATGACTTAAAA	0.308000													13	69					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157527757	157527757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:157527757G>T	ENST00000346085.5	+	20	5483	c.5482G>T	c.(5482-5484)Gag>Tag	p.E1828*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.E1810*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.E1868*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.E1815*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1815					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.G1804_H1815delGGGDTTEHIQTH(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGACACCACCGAGCACATTCA	0.552000													18	116					3.52763e-06	4.73437e-06	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875464	247875464	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247875464C>A	ENST00000302084.2	-	1	641	c.594G>T	c.(592-594)gtG>gtT	p.V198V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCACAAAGGCCACAAGCTCTA	0.537000													36	88					4.23469e-30	8.74658e-30	1	1	0
ATHL1	80162	broad.mit.edu	37	11	293193	293193	+	Missense_Mutation	SNP	G	G	C	rs140787613		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:293193G>C	ENST00000409548.2	+	8	1416	c.1301G>C	c.(1300-1302)gGg>gCg	p.G434A	ATHL1_ENST00000409655.1_Missense_Mutation_p.G257A|ATHL1_ENST00000409479.1_Missense_Mutation_p.G461A	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	434					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TACCATTCAGGGGTCAACAAC	0.607000													20	109					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10383104	10383104	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:10383104G>C	ENST00000328655.3	+	1	49	c.9G>C	c.(7-9)ctG>ctC	p.L3L	PRSS55_ENST00000522210.1_Silent_p.L3L|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	3					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCATGCTCCTGTTCTCAGTGT	0.652000													6	47					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44070649	44070649	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:44070649A>G	ENST00000359947.4	+	17	3453	c.3113A>G	c.(3112-3114)tAt>tGt	p.Y1038C	PTPRF_ENST00000372413.3_Missense_Mutation_p.Y1029C|PTPRF_ENST00000422171.2_Missense_Mutation_p.Y386C|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.Y1038C|PTPRF_ENST00000438120.1_Missense_Mutation_p.Y1029C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1038	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCGACTCCTATAAGTCAGCT	0.572000													4	78					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359036	24359036	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:24359036G>T	ENST00000175238.6	+	20	2238	c.2155G>T	c.(2155-2157)Gat>Tat	p.D719Y	ADAM7_ENST00000520720.1_Missense_Mutation_p.D491Y|ADAM7_ENST00000380789.1_Missense_Mutation_p.D719Y|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	719					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATACTTTGGTGATGAGCAGCA	0.363000													10	61					2.27111e-07	3.32483e-07	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247654980	247654980	+	RNA	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247654980T>A	ENST00000522351.1	+	0	611							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATGCCTGCTCTTATTGCCATG	0.562000													17	138					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641150	121641150	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:121641150G>T	ENST00000489711.1	+	8	1168		c.e8+1		SLC15A2_ENST00000295605.2_Splice_Site	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2						protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATGTATCTGGGTAAGTCCATA	0.373000													9	56					5.68852e-11	9.84374e-11	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61558715	61558715	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:61558715C>A	ENST00000457692.1	+	3	370	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	SERPINB2_ENST00000299502.4_Missense_Mutation_p.L13I	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	13					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ACTCTTTGCCCTCAATTTATT	0.458000													12	63					4.36969e-10	7.30581e-10	1	1	0
BMP2K	55589	broad.mit.edu	37	4	79832115	79832115	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:79832115A>T	ENST00000335016.5	+	16	2580	c.2414A>T	c.(2413-2415)gAt>gTt	p.D805V	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	805						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCTGATTCTGATTATGAGCAG	0.428000													12	37					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569421	248569421	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248569421A>G	ENST00000366474.1	+	1	126	c.126A>G	c.(124-126)ttA>ttG	p.L42L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAAGATATTACCTTATATCG	0.383000													40	166					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411403	210411403	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:210411403G>A	ENST00000367012.3	+	2	328	c.98G>A	c.(97-99)aGc>aAc	p.S33N	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	33							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GAGGCTGACAGCTACGGAGGC	0.592000													39	113					0	0	1	0	0
MRPL42	28977	broad.mit.edu	37	12	93881410	93881410	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:93881410T>C	ENST00000549982.1	+	5	518	c.357T>C	c.(355-357)acT>acC	p.T119T	MRPL42_ENST00000361630.2_Silent_p.T119T|MRPL42_ENST00000548545.1_Silent_p.T119T|MRPL42_ENST00000547098.1_Silent_p.T119T|MRPL42_ENST00000393128.4_Silent_p.T119T|MRPL42_ENST00000552217.1_Silent_p.T119T	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	119					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TCTTTACTACTAAGCACCGTT	0.363000													20	138					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862996	154862996	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:154862996C>G	ENST00000287907.2	+	1	963	c.387C>G	c.(385-387)atC>atG	p.I129M	AC093726.4_ENST00000543018.1_Missense_Mutation_p.Q6H|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Missense_Mutation_p.Q6H	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	129						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGGCCAGCATCTGGAACGTGA	0.642000													7	36					0	0	1	0	0
MRPL28	10573	broad.mit.edu	37	16	419158	419158	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:419158C>T	ENST00000199706.8	-	3	386	c.351G>A	c.(349-351)gaG>gaA	p.E117E	MRPL28_ENST00000389675.2_Silent_p.E117E|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	117					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				TGTCCAGGATCTCACTGTAGA	0.532000													17	73					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225298	206225298	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:206225298C>T	ENST00000367126.4	+	1	1323	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	286					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTTTGTCATCGTGCTGGCCT	0.572000													17	110					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861863	67861863	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:67861863T>A	ENST00000388833.3	+	16	2321	c.1944T>A	c.(1942-1944)cgT>cgA	p.R648R	TSNAXIP1_ENST00000415766.3_Silent_p.R633R|TSNAXIP1_ENST00000561639.1_Silent_p.R702R	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	648					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		ACATCAGGCGTGTGGGACCTC	0.547000													6	105					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316167	125316167	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:125316167G>C	ENST00000373688.2	+	1	777	c.719G>C	c.(718-720)tGg>tCg	p.W240S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W240L(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CGCATTTTCTGGGCTGTGTTT	0.502000													18	136					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47189631	47189631	+	Nonstop_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:47189631C>A	ENST00000320640.6	-	18	2066	c.1838G>T	c.(1837-1839)tGa>tTa	p.*613L	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_3'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	0						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AAAGGCAAGTCACATAGCATC	0.313000													20	139					4.35082e-09	7.00571e-09	1	1	0
NOD1	10392	broad.mit.edu	37	7	30492002	30492002	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:30492002C>A	ENST00000222823.4	-	6	1556	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	344	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACCTTCTTCCGCAGGAACTG	0.672000													9	42					0.307466	0.310185	1	1	0
ZNF491	126069	broad.mit.edu	37	19	11917429	11917429	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:11917429G>T	ENST00000323169.5	+	3	992	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TAAGGAATGTGGGAAAGCCTT	0.413000													8	42					0.00307968	0.00344432	1	1	0
RANBP10	57610	broad.mit.edu	37	16	67762377	67762377	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:67762377T>G	ENST00000317506.3	-	11	1505	c.1390A>C	c.(1390-1392)Aac>Cac	p.N464H	RANBP10_ENST00000448631.2_Missense_Mutation_p.N438H|RANBP10_ENST00000536251.1_Missense_Mutation_p.N235H|RANBP10_ENST00000411657.2_Missense_Mutation_p.N377H|RANBP10_ENST00000602677.1_Missense_Mutation_p.N494H	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	464										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCACACCGTTGGGGTAGTGC	0.607000													12	44					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66771021	66771021	+	RNA	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:66771021A>C	ENST00000416602.2	+	0	313					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACCAGGATGCAGGATTTCTGG	0.398000													26	140					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515433	54515433	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:54515433G>T	ENST00000252729.2	+	4	1363	c.773G>T	c.(772-774)cGg>cTg	p.R258L	CACNG6_ENST00000352529.1_Missense_Mutation_p.R187L|CACNG6_ENST00000346968.2_Missense_Mutation_p.R212L	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	258						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CGGGGGCACCGGGCCACCTAG	0.627000													20	92					3.83957e-06	5.14836e-06	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89499326	89499326	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:89499326G>T	ENST00000336596.2	+	15	2721		c.e15-1		EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3							extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTCTCACACAGGTAATTAAAG	0.473000										TSP Lung(6;0.00050)			5	24					3.59834e-05	4.51849e-05	1	1	0
OTC	5009	broad.mit.edu	37	X	38260568	38260568	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:38260568T>C	ENST00000039007.4	+	5	579	c.427T>C	c.(427-429)Tat>Cat	p.Y143H	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	143					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GGCTCGAGTGTATAAACAATC	0.383000													6	45					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080153	152080153	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152080153G>T	ENST00000368804.1	-	2	5539	c.5540C>A	c.(5539-5541)gCg>gAg	p.A1847E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1847	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCTCCGCCCGGTACTG	0.567000													22	99					2.70639e-06	3.66872e-06	1	1	0
SPANXD	64648	broad.mit.edu	37	X	140785680	140785680	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:140785680G>T	ENST00000370515.3	-	2	569	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CATTTGGAGGGGGTTGATTCT	0.448000													61	278					2.40885e-21	4.87357e-21	1	1	0
NFIL3	4783	broad.mit.edu	37	9	94172453	94172453	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:94172453G>A	ENST00000297689.3	-	2	958	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	188	Ser-rich.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTGAAACATCGGACAGCGAGC	0.468000													4	76					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717868	26717868	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:26717868C>A	ENST00000272371.2	-	9	965	c.839G>T	c.(838-840)gGt>gTt	p.G280V	OTOF_ENST00000403946.3_Missense_Mutation_p.G280V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	280	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTCGTCACCCACCTCCAC	0.577000													11	64					1.58986e-06	2.19736e-06	1	1	0
CST2	1470	broad.mit.edu	37	20	23807101	23807101	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:23807101C>A	ENST00000304725.2	-	1	267	c.197G>T	c.(196-198)cGc>cTc	p.R66L		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CCGCAGCAGGCGTCTGTAGTA	0.557000													9	37					1.58986e-06	2.19736e-06	1	1	0
DUSP23	54935	broad.mit.edu	37	1	159752077	159752077	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:159752077G>A	ENST00000368107.1	+	2	500	c.402G>A	c.(400-402)gaG>gaA	p.E134E	DUSP23_ENST00000368108.3_Silent_p.E134E|DUSP23_ENST00000368109.1_Silent_p.E134E			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	134	Tyrosine-protein phosphatase.					cytosol|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(1)	1	all_hematologic(112;0.0537)					GCTCCATCGAGACCTATGAGC	0.572000													5	66					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133898711	133898711	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:133898711C>T	ENST00000220616.4	+	9	1134	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	TG_ENST00000377869.1_Missense_Mutation_p.A365V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	365					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAATCTTGTGCCTCCGAAAGG	0.502000													23	130					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511497	242511497	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:242511497G>A	ENST00000427495.1	-	2	176	c.51C>T	c.(49-51)gcC>gcT	p.A17A	PLD5_ENST00000536534.1_Silent_p.A79A|PLD5_ENST00000442594.2_5'UTR	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	79						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAACCAGAATGGCAAAGCAGC	0.453000													19	134					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123171680	123171680	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:123171680G>C	ENST00000264501.4	+	37	6247	c.5874G>C	c.(5872-5874)cgG>cgC	p.R1958R	KIAA1109_ENST00000455637.1_Silent_p.R1958R|KIAA1109_ENST00000388738.3_Silent_p.R1958R			Q2LD37	K1109_HUMAN	KIAA1109	1958					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGTGACCGGACAAGCCCTT	0.388000													17	99					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124497351	124497351	+	Silent	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:124497351C>G	ENST00000539644.1	+	6	2490	c.660C>G	c.(658-660)gtC>gtG	p.V220V	ZNF664_ENST00000538932.2_Silent_p.V220V|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Silent_p.V220V|ZNF664_ENST00000337815.4_Silent_p.V220V			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ACCAGAGAGTCCACACAGGAG	0.517000													19	172					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909495	94909495	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:94909495G>T	ENST00000334708.3	-	4	1049	c.985C>A	c.(985-987)Caa>Aaa	p.Q329K	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	329					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGACCAATTTGGGGAAGTATG	0.438000													10	97					0.335167	0.337902	1	1	0
DLX5	1749	broad.mit.edu	37	7	96650103	96650103	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:96650103G>T	ENST00000222598.4	-	3	1288	c.815C>A	c.(814-816)cCg>cAg	p.P272Q	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	272					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCCCGGCGGCGGCAGGTGGGA	0.587000													20	45					2.70639e-06	3.66872e-06	1	1	0
NDST3	9348	broad.mit.edu	37	4	119059214	119059214	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:119059214C>A	ENST00000296499.5	+	5	1633	c.1230C>A	c.(1228-1230)caC>caA	p.H410Q	NDST3_ENST00000433996.2_Missense_Mutation_p.H329Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	410	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTAGGAGCACGGCATTCCAA	0.418000													12	46					4.36969e-10	7.30581e-10	1	1	0
C17orf47	284083	broad.mit.edu	37	17	56620084	56620084	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:56620084T>C	ENST00000321691.3	-	1	1645	c.1464A>G	c.(1462-1464)ccA>ccG	p.P488P	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	488										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAACTCCTTTGGTGGTGATG	0.468000													45	349					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170926	204170926	+	Missense_Mutation	SNP	G	G	A	rs150924607	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:204170926G>A	ENST00000308302.3	-	3	316	c.131C>T	c.(130-132)aCg>aTg	p.T44M		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	44					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.T44M(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGACAGGCCCGTCAGGAACAG	0.602000													5	84					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26751806	26751806	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:26751806A>G	ENST00000326279.6	+	3	355	c.241A>G	c.(241-243)Atg>Gtg	p.M81V	LIN28A_ENST00000254231.4_Missense_Mutation_p.M81V	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	81	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TAAGCTGCACATGGAAGGGTT	0.458000													12	51					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190972	152190972	+	Missense_Mutation	SNP	C	C	A	rs150311804		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152190972C>A	ENST00000368801.2	-	3	3208	c.3133G>T	c.(3133-3135)Ggt>Tgt	p.G1045C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1045					keratinization		calcium ion binding|protein binding	p.G1045S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGAGTGACCGGAGCCAGAC	0.577000													104	287					1.58909e-51	3.30522e-51	1	1	0
CTSE	1510	broad.mit.edu	37	1	206328753	206328753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:206328753G>T	ENST00000361052.3	+	7	953	c.835G>T	c.(835-837)Gag>Tag	p.E279*	CTSE_ENST00000358184.2_Nonsense_Mutation_p.E274*|CTSE_ENST00000360218.2_Intron|CTSE_ENST00000432969.2_Intron			P14091	CATE_HUMAN	cathepsin E	279					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTTCTGCTCCGAGGGCTGCCA	0.607000													15	73					0.0242445	0.0256819	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141299455	141299455	+	Missense_Mutation	SNP	G	G	A	rs142111915		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:141299455G>A	ENST00000389484.3	-	44	8251	c.7280C>T	c.(7279-7281)gCt>gTt	p.A2427V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2427					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCGCAGTATAGCTCTTCTTCC	0.418000										TSP Lung(27;0.18)			27	113					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176323127	176323127	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:176323127C>T	ENST00000292432.5	-	2	125	c.34G>A	c.(34-36)Ggg>Agg	p.G12R		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	12	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTTCTTCCCCCTGCCGCAAC	0.552000													12	55					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27722063	27722063	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:27722063G>A	ENST00000264717.2	+	6	546	c.483G>A	c.(481-483)gaG>gaA	p.E161E	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	161	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACGGGATTGAGGAACTGAAGA	0.512000													14	55					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838472	145838472	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:145838472G>T	ENST00000296702.5	+	4	502	c.464G>T	c.(463-465)cGt>cTt	p.R155L	TCERG1_ENST00000394421.2_Missense_Mutation_p.R155L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	155	WW 1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCGGACACGTGAATCTGCA	0.418000													27	168					5.45727e-16	1.05931e-15	1	1	0
CDK14	5218	broad.mit.edu	37	7	90377088	90377088	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:90377088C>A	ENST00000406263.1	+	3	766	c.324C>A	c.(322-324)agC>agA	p.S108R	CDK14_ENST00000436577.2_Intron|CDK14_ENST00000265741.3_Missense_Mutation_p.S136R|CDK14_ENST00000380050.3_Missense_Mutation_p.S154R			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	154					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGGAAAAGCAAGTAAGTTC	0.294000													33	94					6.00712e-18	1.18939e-17	1	1	0
ONECUT2	9480	broad.mit.edu	37	18	55143734	55143734	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:55143734G>T	ENST00000491143.2	+	2	1326	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	432					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GTCCCGCCTGGTGTTCACTGA	0.517000													7	60					0.0293803	0.0309453	1	1	0
BPI	671	broad.mit.edu	37	20	36954734	36954734	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:36954734C>A	ENST00000262865.4	+	10	1162	c.1073C>A	c.(1072-1074)tCt>tAt	p.S358Y	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	358					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCACACCTGTCTGTGCAGCCC	0.587000													7	22					2.0095e-06	2.75169e-06	1	1	0
OR5L2	26338	broad.mit.edu	37	11	55595153	55595153	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:55595153G>A	ENST00000378397.1	+	1	459	c.459G>A	c.(457-459)acG>acA	p.T153T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTGTGGGACGGTGTGTTCTC	0.493000										HNSCC(27;0.073)			39	210					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186084544	186084544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:186084544C>A	ENST00000271588.4	+	75	11788	c.11559C>A	c.(11557-11559)taC>taA	p.Y3853*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Y3853*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3853	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAACTCATACAGGTAAGGAT	0.338000													8	52					5.18039e-06	6.86552e-06	1	1	0
CNBD1	168975	broad.mit.edu	37	8	88249314	88249314	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:88249314A>G	ENST00000518476.1	+	6	796	c.745A>G	c.(745-747)Atg>Gtg	p.M249V	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	249										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ACTTGCTGAGATGTACCTACC	0.383000													15	64					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57743763	57743763	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:57743763G>A	ENST00000281282.5	+	5	1947	c.1869G>A	c.(1867-1869)gtG>gtA	p.V623V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	623						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCATAGAagtggctgaacttc	0.323000													17	88					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158534326	158534326	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:158534326G>A	ENST00000251527.5	-	17	2202	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L	ESYT2_ENST00000435514.2_Silent_p.L148L	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	741						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGGGAGGCCAGGAGGCTGGAG	0.662000													9	40					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5496922	5496922	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:5496922A>G	ENST00000355029.4	+	10	1180	c.1038A>G	c.(1036-1038)atA>atG	p.I346M	NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.I292M|NET1_ENST00000542715.1_Missense_Mutation_p.I165M	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	346	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TATTGATAATACAGGGAGTCC	0.398000													16	101					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542466	61542466	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:61542466G>A	ENST00000266070.4	-	3	824	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	DIDO1_ENST00000395343.1_Missense_Mutation_p.R167C|DIDO1_ENST00000266071.5_Missense_Mutation_p.R167C|DIDO1_ENST00000354665.4_Missense_Mutation_p.R167C|DIDO1_ENST00000370371.4_Missense_Mutation_p.R167C|DIDO1_ENST00000395335.2_Missense_Mutation_p.R167C|DIDO1_ENST00000370368.1_Missense_Mutation_p.R167C|DIDO1_ENST00000395340.1_Missense_Mutation_p.R167C|DIDO1_ENST00000370366.1_Missense_Mutation_p.R167C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	167					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGCGAAGGCGATTCTGAAGC	0.602000													28	68					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56044093	56044093	+	Nonstop_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56044093T>C	ENST00000313033.2	+	1	1065	c.979T>C	c.(979-981)Tag>Cag	p.*327Q		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAATAAGTTATAGTTTTAAAA	0.338000													8	48					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415071	210415071	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:210415071T>A	ENST00000367012.3	+	4	690	c.460T>A	c.(460-462)Tgc>Agc	p.C154S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	154							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CTTCCCTGCCTGCTCTTTCAA	0.448000													23	238					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633255	32633255	+	Nonsense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:32633255T>A	ENST00000242310.4	-	1	2412	c.2323A>T	c.(2323-2325)Aag>Tag	p.K775*		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	775					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTGGCATCTTATGAAGATAC	0.438000													18	122					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	41992738	41992738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:41992738C>T	ENST00000264451.6	+	1	250	c.70C>T	c.(70-72)Cga>Tga	p.R24*		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	24					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCTCCGTCTGCGATGCAGGGC	0.706000													4	20					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361219	105361219	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:105361219G>A	ENST00000297581.2	+	2	488	c.439G>A	c.(439-441)Gca>Aca	p.A147T	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A147T	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	147					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.A147T(1)									ATATATTGAGGCAATTCAGTG	0.403000													18	85					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125576001	125576001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:125576001G>T	ENST00000316519.6	+	5	708	c.502G>T	c.(502-504)Gag>Tag	p.E168*	AACS_ENST00000261686.6_Nonsense_Mutation_p.E168*	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	168					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCACGCTGTCGAGGCGATGCT	0.557000													4	62					0.014758	0.0158251	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158736335	158736335	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158736335G>T	ENST00000335094.2	-	1	157	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGACCACCAGGAATATCAGCA	0.507000													9	85					0.000274275	0.00032488	1	1	0
ETAA1	54465	broad.mit.edu	37	2	67631469	67631469	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:67631469G>T	ENST00000272342.5	+	5	1785	c.1655G>T	c.(1654-1656)gGc>gTc	p.G552V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	552						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GATCTTTTTGGCTCTGCAAAT	0.353000													14	92					3.27435e-08	5.04244e-08	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30093108	30093108	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:30093108C>A	ENST00000567636.1	+	0	1483					NR_003558.1																						CAGGACTCGGCCTTTACCCTG	0.607000													3	7					0.004672	0.00515519	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76569473	76569473	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:76569473G>T	ENST00000307431.8	+	19	3169	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	CNTNAP4_ENST00000377504.4_Silent_p.L880L|CNTNAP4_ENST00000476707.1_Silent_p.L932L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L856L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	929	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAGGCTTTCTGGGCTGCATTC	0.483000													6	61					3.09899e-07	4.50568e-07	1	1	0
LCE2C	353140	broad.mit.edu	37	1	152648675	152648675	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152648675G>T	ENST00000368783.1	+	2	239	c.184G>T	c.(184-186)Ggc>Tgc	p.G62C	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	62	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCTGCTGCAG	0.662000													26	147					8.24728e-16	1.5967e-15	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616127	248616127	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248616127C>A	ENST00000342927.3	+	1	51	c.29C>A	c.(28-30)tCc>tAc	p.S10Y		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCAGAACTCCACTAACTTC	0.502000													9	167					3.51602e-12	6.30502e-12	1	1	0
MC5R	4161	broad.mit.edu	37	18	13826108	13826108	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:13826108A>T	ENST00000324750.3	+	1	566	c.344A>T	c.(343-345)gAc>gTc	p.D115V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	115					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGCCACATTGACAATGTGTTT	0.517000													13	94					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232564261	232564261	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:232564261C>A	ENST00000366630.1	-	16	4664	c.4306G>T	c.(4306-4308)Gtg>Ttg	p.V1436L	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V510L|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1436L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1436					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCTCCCACCACTGTCTGATGC	0.438000													13	98					1.61879e-10	2.76256e-10	1	1	0
CCIN	881	broad.mit.edu	37	9	36169749	36169749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:36169749C>T	ENST00000335119.2	+	1	361	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	84	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CACAGTGGACCAGCTTCTGGA	0.537000													7	28					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219874159	219874159	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:219874159C>T	ENST00000341552.5	-	28	4559	c.4476G>A	c.(4474-4476)ggG>ggA	p.G1492G	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.G1492G|CCDC108_ENST00000441968.1_Silent_p.G1492G	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1492						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCCACCACCCCTATCATGG	0.532000													6	49					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784075	9784075	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:9784075C>G	ENST00000304374.2	+	1	818	c.422C>G	c.(421-423)gCc>gGc	p.A141G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	141					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCTACTGGGCCATCTCCAGG	0.592000													4	47					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532740	42532740	+	Silent	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:42532740T>G	ENST00000282030.5	+	4	3731	c.3435T>G	c.(3433-3435)ggT>ggG	p.G1145G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1145						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGTCCAGTGGTCGGCTCCATA	0.537000									Schinzel-Giedion syndrome				8	60					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71562245	71562245	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:71562245G>T	ENST00000370455.3	+	8	915	c.667G>T	c.(667-669)Ggc>Tgc	p.G223C	SMAP1_ENST00000370452.3_Missense_Mutation_p.G196C|SMAP1_ENST00000316999.5_Missense_Mutation_p.G196C	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	223					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CTTTTCAGATGGCCCTGCTGT	0.388000													24	101					1.10923e-09	1.82169e-09	1	1	0
DUSP22	56940	broad.mit.edu	37	6	348194	348194	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:348194C>A	ENST00000604971.1	+	3	1159	c.46C>A	c.(46-48)Cgt>Agt	p.R16S	DUSP22_ENST00000605863.1_Missense_Mutation_p.R16S|DUSP22_ENST00000344450.5_Missense_Mutation_p.R119S|DUSP22_ENST00000603453.1_Missense_Mutation_p.R16S|DUSP22_ENST00000419235.2_Missense_Mutation_p.R119S|DUSP22_ENST00000605315.1_Missense_Mutation_p.R16S|DUSP22_ENST00000605035.1_Missense_Mutation_p.R16S			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	119					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCACACCGTGCGTGCTGGGAG	0.602000													16	190					3.32936e-07	4.81232e-07	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31371783	31371783	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:31371783G>T	ENST00000268296.4	+	8	981	c.861_splice	c.e8+1	p.G287_splice	ITGAX_ENST00000562522.1_Splice_Site_p.G287_splice	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	287	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TATGCAATTGGGGTAGGGCGT	0.522000													10	60					1.76689e-08	2.75531e-08	1	1	0
NT5C1A	84618	broad.mit.edu	37	1	40128993	40128993	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:40128993T>A	ENST00000235628.1	-	4	546	c.547A>T	c.(547-549)Att>Ttt	p.I183F		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	183					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCCTCATCAATGGCTTCTCGC	0.547000													10	63					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58482882	58482882	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:58482882G>T	ENST00000344743.3	-	3	237	c.96C>A	c.(94-96)gtC>gtA	p.V32V	GLYAT_ENST00000529732.1_Silent_p.V32V|GLYAT_ENST00000278400.3_Silent_p.V32V	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	32					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTATGTGAAAGACAGTTCCAT	0.388000													7	59					0.0381472	0.0400654	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25425501	25425501	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:25425501G>T	ENST00000441592.2	+	0	489																											CTGGCCCCAGGCCAGTGTCTC	0.602000													8	48					1.06961e-07	1.61367e-07	1	1	0
HOXA2	3199	broad.mit.edu	37	7	27141788	27141788	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:27141788G>A	ENST00000222718.5	-	1	642	c.332C>T	c.(331-333)cCg>cTg	p.P111L		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	111						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ggcggcggcCGGCAGAAGTGC	0.716000													3	9					0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052373	21052373	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:21052373C>A	ENST00000335950.4	-	3	723	c.261G>T	c.(259-261)aaG>aaT	p.K87N	RNASE11_ENST00000555841.1_Missense_Mutation_p.K87N|RNASE11_ENST00000553849.1_Missense_Mutation_p.K87N|RNASE11_ENST00000432835.2_Missense_Mutation_p.K87N|RNASE11_ENST00000398009.2_Missense_Mutation_p.K87N|RNASE11_ENST00000398008.2_Missense_Mutation_p.K87N	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	87						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		AACTGTTTCCCTTGGGGTCAT	0.413000													39	215					6.57855e-14	1.2365e-13	1	1	0
TTF1	7270	broad.mit.edu	37	9	135267595	135267595	+	Splice_Site	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:135267595T>A	ENST00000334270.2	-	6	1896		c.e6-2			NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I						negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCGCTATACCTAGGAGAAAGG	0.438000													4	36					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48618579	48618579	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:48618579T>A	ENST00000328333.8	-	52	5018	c.4911A>T	c.(4909-4911)ggA>ggT	p.G1637G	COL7A1_ENST00000454817.1_Silent_p.G1637G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1637	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCTTTCTCTCCAACTTCAC	0.562000													5	7					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211883	249211883	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:249211883G>A	ENST00000355360.4	+	3	617	c.347G>A	c.(346-348)gGg>gAg	p.G116E	PGBD2_ENST00000539153.1_Missense_Mutation_p.G364E|PGBD2_ENST00000329291.5_Missense_Mutation_p.G367E	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	367										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGAAAAAGGGGGTGAAAGCC	0.423000													13	127					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25331761	25331761	+	RNA	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:25331761G>A	ENST00000546682.1	+	0	453				SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GTCGAACTGAGGTCCAGCACA	0.473000													32	205					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502645	20502645	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20502645G>T	ENST00000315693.2	-	1	274	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ACCATGAGATGGTCTTACGTT	0.448000													11	60					2.27111e-07	3.32483e-07	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145147080	145147080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:145147080C>A	ENST00000558170.2	-	10	4767	c.3583G>T	c.(3583-3585)Gag>Tag	p.E1195*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1195*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1171*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1195*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1195	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCCCATCCTCCGAACTATCG	0.403000													30	235					2.23313e-29	4.59962e-29	1	1	0
ANKRD35	148741	broad.mit.edu	37	1	145562448	145562448	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:145562448A>G	ENST00000355594.4	+	10	2223	c.2136A>G	c.(2134-2136)ctA>ctG	p.L712L		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	712										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)					CCGCAGACCTAGTGGGCGAGA	0.667000													7	34					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52635404	52635404	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:52635404C>T	ENST00000331817.5	+	5	1025	c.842C>T	c.(841-843)gCc>gTc	p.A281V		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	281	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GAGGCTGAAGCCTGGTACCAG	0.592000													15	63					0	0	1	0	0
DUSP23	54935	broad.mit.edu	37	1	159751965	159751965	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:159751965T>C	ENST00000368107.1	+	2	388	c.290T>C	c.(289-291)cTg>cCg	p.L97P	DUSP23_ENST00000368108.3_Missense_Mutation_p.L97P|DUSP23_ENST00000368109.1_Missense_Mutation_p.L97P			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	97	Tyrosine-protein phosphatase.					cytosol|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(1)	1	all_hematologic(112;0.0537)					CACTGTGCTCTGGGCTTTGGC	0.617000													4	59					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154174747	154174747	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:154174747C>G	ENST00000336314.4	+	8	1038	c.1014C>G	c.(1012-1014)ttC>ttG	p.F338L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	415							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATACTACTTCAGCGTGGACA	0.478000													8	84					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748359	111748359	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:111748359C>A	ENST00000261726.6	+	15	1927	c.1773C>A	c.(1771-1773)atC>atA	p.I591I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	591						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCAGCGAGATCCTAGCCCGGC	0.607000													15	90					1.15088e-07	1.71878e-07	1	1	0
ATHL1	80162	broad.mit.edu	37	11	293192	293192	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:293192G>T	ENST00000409548.2	+	8	1415	c.1300G>T	c.(1300-1302)Ggg>Tgg	p.G434W	ATHL1_ENST00000409655.1_Missense_Mutation_p.G257W|ATHL1_ENST00000409479.1_Missense_Mutation_p.G461W	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	434					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTACCATTCAGGGGTCAACAA	0.607000													20	112					8.10497e-08	1.23279e-07	1	1	0
CA12	771	broad.mit.edu	37	15	63618539	63618539	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:63618539T>G	ENST00000178638.3	-	11	1450	c.1010A>C	c.(1009-1011)aAc>aCc	p.N337T	CA12_ENST00000560666.1_5'UTR|CA12_ENST00000344366.3_Missense_Mutation_p.N326T|CA12_ENST00000422263.2_Missense_Mutation_p.N266T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	337					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GACTCCCTTGTTATCACCTTT	0.522000													12	68					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605316	171605316	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:171605316G>T	ENST00000037502.5	-	3	1323	c.1264C>A	c.(1264-1266)Cgt>Agt	p.R422S		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	422	Olfactomedin-like.		R -> C.|R -> H (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GACTGCTTACGGATGTTTGTC	0.507000													24	134					1.64293e-13	3.06474e-13	1	1	0
KRT31	3881	broad.mit.edu	37	17	39553678	39553678	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:39553678G>A	ENST00000251645.2	-	1	166	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	38	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCACATTGGCGGGGATGTTGC	0.657000													12	82					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103931	184103931	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:184103931G>A	ENST00000204604.1	+	15	2162	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	CHRD_ENST00000545352.1_Missense_Mutation_p.G269E|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G639E|CHRD_ENST00000348986.3_Missense_Mutation_p.G599E	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	639	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCCCAGAGGGGAGCTCCGA	0.647000													8	54					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370354	240370354	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:240370354C>A	ENST00000319653.9	+	5	2472	c.2242C>A	c.(2242-2244)Ccc>Acc	p.P748T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	748					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACAGACTTCCCCCACGGAAGA	0.562000													17	63					9.16793e-09	1.45257e-08	1	1	0
TMEFF1	8577	broad.mit.edu	37	9	103275609	103275609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:103275609G>T	ENST00000374879.4	+	4	889	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	TMEFF1_ENST00000334943.6_Nonsense_Mutation_p.E114*|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R116I	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGATCTGGAGAAGGAGGTAA	0.269000													17	80					0.000566183	0.00066323	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39521469	39521469	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:39521469T>C	ENST00000251646.3	-	5	883	c.834A>G	c.(832-834)acA>acG	p.T278T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	278	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGGCATTGACTGTGCGTCTCA	0.587000													7	140					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147120600	147120600	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:147120600C>A	ENST00000383075.3	-	2	498		c.e2-1		ZIC4_ENST00000425731.3_Splice_Site|ZIC4_ENST00000525172.2_Splice_Site|ZIC4_ENST00000473123.1_Splice_Site|ZIC4_ENST00000484399.1_Splice_Site|ZIC4_ENST00000491672.1_Splice_Site	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GACTTTGAGCCTGTTTGGGAA	0.383000													20	97					2.37509e-13	4.42495e-13	1	1	0
CDR1	1038	broad.mit.edu	37	X	139866052	139866052	+	Silent	SNP	G	G	T	rs146276960		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:139866052G>T	ENST00000370532.2	-	1	671	c.480C>A	c.(478-480)tcC>tcA	p.S160S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	160	6 X 6 AA approximate repeats.							p.S160S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAAGTCTTCCGGATAATTTGG	0.443000													41	248					2.66277e-13	4.9361e-13	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	73964199	73964199	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:73964199T>A	ENST00000358602.4	-	26	4728	c.4612A>T	c.(4612-4614)Acc>Tcc	p.T1538S	ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1425S|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1287S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1538					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTAGTAGTGGTTGTGGCACTT	0.383000													11	56					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433190	55433190	+	Nonsense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:55433190T>A	ENST00000314259.3	+	1	577	c.548T>A	c.(547-549)tTg>tAg	p.L183*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTCAGTTGTTGACACTTGCC	0.423000													22	110					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75978942	75978942	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:75978942C>A	ENST00000274364.6	+	29	3960	c.3663C>A	c.(3661-3663)ctC>ctA	p.L1221L	IQGAP2_ENST00000396234.3_Silent_p.L717L|IQGAP2_ENST00000502745.1_Silent_p.L717L|IQGAP2_ENST00000379730.3_Silent_p.L723L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1221					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACATAAAGCTCCTGTTGGAAC	0.393000													18	75					1.56452e-12	2.84686e-12	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184741	130184741	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:130184741G>T	ENST00000422113.2	-	2	908	c.582C>A	c.(580-582)gcC>gcA	p.A194A		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	194						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTCCAGCTCGGCCACGCACA	0.701000													5	31					1	1	1	1	0
C7orf60	154743	broad.mit.edu	37	7	112462131	112462131	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:112462131C>G	ENST00000297145.4	-	5	1051	c.886G>C	c.(886-888)Gct>Cct	p.A296P		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	296										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GACTCTATAGCAATCTTCCAG	0.383000													19	81					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532568	71532568	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:71532568T>A	ENST00000265382.3	+	9	1181	c.876T>A	c.(874-876)ccT>ccA	p.P292P	PIP5K1B_ENST00000541509.1_Silent_p.P292P	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	292	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAAATGTGCCTGATGCTAAGC	0.468000													16	237					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170112653	170112653	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:170112653C>T	ENST00000263816.3	-	19	3018	c.2733G>A	c.(2731-2733)gaG>gaA	p.E911E	LRP2_ENST00000443831.1_Silent_p.E774E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	911					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	GTGTCATCTGCTCTATATGGC	0.358000													16	66					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11207002	11207002	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:11207002G>T	ENST00000337414.4	-	4	1795	c.923C>A	c.(922-924)gCa>gAa	p.A308E	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A105E|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A308E|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A133E|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.A117E|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A340E|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A105E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	308					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAAGTCAGATGCATCTTTCTG	0.463000													16	57					3.45872e-05	4.384e-05	1	1	0
RFWD2	64326	broad.mit.edu	37	1	176015374	176015374	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:176015374T>G	ENST00000367669.3	-	12	1878	c.1364A>C	c.(1363-1365)cAg>cCg	p.Q455P	RFWD2_ENST00000308769.8_Missense_Mutation_p.Q431P	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	455					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACTGCATCCTGGATGACAGT	0.358000													8	124					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813508	248813508	+	Nonsense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248813508A>T	ENST00000344889.3	-	1	677	c.678T>A	c.(676-678)taT>taA	p.Y226*		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCTCATCCTATAAACAGTAA	0.512000													4	20					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99865278	99865278	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:99865278C>A	ENST00000331768.5	-	13	1682	c.1523G>T	c.(1522-1524)gGg>gTg	p.G508V		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	508					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CTCCAACAGCCCAAGGTTACT	0.537000													16	228					1.5739e-10	2.69525e-10	1	1	0
SLC12A2	6558	broad.mit.edu	37	5	127420130	127420130	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:127420130G>T	ENST00000262461.2	+	1	673	c.484G>T	c.(484-486)Gtc>Ttc	p.V162F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.V162F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	162					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCTGCCGGGGTCGGAGTCGA	0.692000													4	19					1.23904e-05	1.602e-05	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27499898	27499898	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:27499898C>A	ENST00000356183.4	-	22	3503	c.3488G>T	c.(3487-3489)cGc>cTc	p.R1163L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1163L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1163						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGCATTGGGCGCTTGGACAG	0.532000													16	106					1.67942e-08	2.63832e-08	1	1	0
TMEM255B	348013	broad.mit.edu	37	13	114514732	114514732	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:114514732G>A	ENST00000375353.3	+	9	864	c.837G>A	c.(835-837)gcG>gcA	p.A279A	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B																		TCCCAGTTGCGCCCTCCTCTG	0.647000													8	48					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906283	164906283	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:164906283C>A	ENST00000475390.1	-	2	2779	c.2336G>T	c.(2335-2337)gGt>gTt	p.G779V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G779V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	779						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGTCCCTGGACCCCCACGTTC	0.562000										HNSCC(40;0.11)			16	93					4.7546e-09	7.61455e-09	1	1	0
SEC14L5	9717	broad.mit.edu	37	16	5042018	5042018	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:5042018G>T	ENST00000251170.7	+	6	834	c.654G>T	c.(652-654)gcG>gcT	p.A218A		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	218						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CTCTGGAGGCGGTCAGTATGG	0.697000													3	9					1	1	1	1	0
CCDC84	338657	broad.mit.edu	37	11	118886114	118886114	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:118886114C>T	ENST00000334418.1	+	10	959	c.903C>T	c.(901-903)ggC>ggT	p.G301G		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	301										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCTCTTTTGGCCGCGTCTGGA	0.552000													9	40					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849829	156849829	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:156849829G>T	ENST00000368196.3	+	15	2187	c.2067G>T	c.(2065-2067)ccG>ccT	p.P689P	NTRK1_ENST00000392302.2_Silent_p.P659P|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_Silent_p.P695P|NTRK1_ENST00000358660.3_Silent_p.P692P	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	695	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCTGGATGCCGCCCGAGAGCA	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			11	71					3.86212e-05	4.82521e-05	1	1	0
MYL7	58498	broad.mit.edu	37	7	44180571	44180571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:44180571C>A	ENST00000458240.1	-	1	313	c.25G>T	c.(25-27)Gag>Tag	p.E9*	MYL7_ENST00000223364.3_Nonsense_Mutation_p.E36*|MYL7_ENST00000434895.1_5'UTR			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	36					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCTTTGAACTCCTGTATCTGG	0.597000													7	58					8.12818e-05	9.91291e-05	1	1	0
HOXB2	3212	broad.mit.edu	37	17	46620951	46620951	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:46620951C>G	ENST00000330070.4	-	2	1717	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	184					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						ACCTGCCTTTCGGTGAGGTCC	0.622000													14	64					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670523	186670523	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:186670523C>G	ENST00000343098.5	+	17	16757	c.16757C>G	c.(16756-16758)gCa>gGa	p.A5586G	FSIP2_ENST00000424728.1_Missense_Mutation_p.A5497G	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTATAAATGCAATTATGAAA	0.338000													12	100					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247381	56247381	+	Missense_Mutation	SNP	G	G	T	rs142058863	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:56247381G>T	ENST00000545221.1	+	1	365	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCCTTTGACCGCCTCATTGCC	0.562000													36	128					3.76114e-14	7.09639e-14	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101606405	101606405	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:101606405C>A	ENST00000310954.6	-	3	1011	c.725G>T	c.(724-726)gGa>gTa	p.G242V		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	242					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGGAGTTCCTCCTGCCCCCAG	0.413000													13	61					4.93089e-13	9.11784e-13	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70228239	70228239	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:70228239C>A	ENST00000342771.4	+	7	1447	c.1126C>A	c.(1126-1128)Cca>Aca	p.P376T	AUTS2_ENST00000406775.2_Missense_Mutation_p.P376T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	376										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCAGAACCTCCCACCTGTGCA	0.637000													14	77					2.23348e-06	3.04435e-06	1	1	0
CPN1	1369	broad.mit.edu	37	10	101825118	101825118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:101825118C>A	ENST00000370418.3	-	4	837	c.586G>T	c.(586-588)Gag>Tag	p.E196*		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	196	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GCCCGGGTCTCGGGTTCCACC	0.587000													3	31					0.00909568	0.00987474	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886136	88886136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:88886136C>A	ENST00000319675.3	-	1	160	c.64G>T	c.(64-66)Gga>Tga	p.G22*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	22										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCATTGAGTCCCACTCTGACT	0.522000													12	63					3.03607e-14	5.75767e-14	1	1	0
TGFB2	7042	broad.mit.edu	37	1	218609341	218609341	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:218609341G>T	ENST00000366929.4	+	6	1335	c.868G>T	c.(868-870)Ggt>Tgt	p.G290C	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Missense_Mutation_p.G262C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	262					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ATATACCAGTGGTGATCAGAA	0.378000													12	107					0.00010058	0.000121664	1	1	0
DOK6	220164	broad.mit.edu	37	18	67508565	67508565	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:67508565G>T	ENST00000382713.5	+	8	1132	c.942G>T	c.(940-942)ccG>ccT	p.P314P		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	314							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CCCAGCAGCCGTTGTCGCGGT	0.542000													8	110					0.000157383	0.000189601	1	1	0
KRT79	338785	broad.mit.edu	37	12	53216829	53216829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:53216829G>T	ENST00000330553.5	-	7	1372	c.1338C>A	c.(1336-1338)taC>taA	p.Y446*		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	446	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGCTTGCGGTAGGTGGCAA	0.657000													7	55					0.00198382	0.00224067	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32673983	32673983	+	Silent	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:32673983A>C	ENST00000421745.2	+	22	4739	c.4605A>C	c.(4603-4605)tcA>tcC	p.S1535S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1535					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGATTTATCAGATGTCCTTT	0.333000													11	55					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731201	185731201	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:185731201G>A	ENST00000302277.6	+	2	811	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	73						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCAGGAGTTTGACAATCACAT	0.368000													12	75					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079902	44079902	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:44079902A>G	ENST00000272286.2	+	6	949	c.859A>G	c.(859-861)Acg>Gcg	p.T287A		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	287	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTCCTGATGACGTCTGGCAC	0.587000													9	81					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56219845	56219845	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:56219845A>G	ENST00000381226.3	-	11	979	c.964T>C	c.(964-966)Tgt>Cgt	p.C322R	MIER3_ENST00000381213.3_Missense_Mutation_p.C316R|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.C254R|MIER3_ENST00000381199.3_Missense_Mutation_p.C317R			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	317	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AATGCTACACACTCAGCAACT	0.338000													9	74					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738309	19738309	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:19738309T>A	ENST00000222567.5	-	4	717	c.647A>T	c.(646-648)gAa>gTa	p.E216V		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	216						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGTGCCATTTTCTGTAACTTC	0.328000													16	141					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973184	115973184	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:115973184A>T	ENST00000251864.2	+	15	2064	c.1911A>T	c.(1909-1911)acA>acT	p.T637T	TDRD1_ENST00000369282.1_Silent_p.T637T|TDRD1_ENST00000369280.1_Silent_p.T637T|TDRD1_ENST00000369281.2_Silent_p.T580T|TDRD1_ENST00000422662.1_Silent_p.T241T	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	637					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAATAATCACAGTGAAAGTGG	0.388000													26	109					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291650	141291650	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:141291650C>G	ENST00000247452.3	-	3	471	c.124G>C	c.(124-126)Gcc>Ccc	p.A42P		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	42	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAAGAGGCGGAGGAGGCT	0.522000										HNSCC(46;0.14)			25	125					0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58338125	58338125	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:58338125T>A	ENST00000528489.1	-	2	296	c.62A>T	c.(61-63)cAg>cTg	p.Q21L	LPXN_ENST00000395074.2_Silent_p.P25P|LPXN_ENST00000528954.1_Silent_p.P30P			O60711	LPXN_HUMAN	leupaxin	0					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GAAGAGGAGCTGGGTTGGAAT	0.458000													7	59					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527375	16527375	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:16527375G>A	ENST00000311331.7	-	6	916	c.825C>T	c.(823-825)ccC>ccT	p.P275P		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TACATTTGTAGGGTTTTTCCT	0.343000													20	77					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219360654	219360654	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:219360654C>A	ENST00000258399.3	-	14	1713	c.1301G>T	c.(1300-1302)aGt>aTt	p.S434I	USP37_ENST00000454775.1_Missense_Mutation_p.S434I|USP37_ENST00000418019.1_Missense_Mutation_p.S434I|USP37_ENST00000415516.1_Missense_Mutation_p.S362I	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	434					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CAAACACTGACTTAAAAATTC	0.348000													4	70					2.56e-06	3.47663e-06	1	1	0
BARHL2	343472	broad.mit.edu	37	1	91180296	91180296	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:91180296C>A	ENST00000370445.4	-	2	684	c.643G>T	c.(643-645)Gac>Tac	p.D215Y		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	215						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ATCTCCCGGTCTCCTTCCTCC	0.532000													16	134					3.99206e-14	7.51297e-14	1	1	0
TGFBR1	7046	broad.mit.edu	37	9	101894847	101894847	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:101894847G>T	ENST00000374994.4	+	3	517	c.400G>T	c.(400-402)Gtg>Ttg	p.V134L	TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000550253.1_Missense_Mutation_p.V65L|TGFBR1_ENST00000552516.1_Missense_Mutation_p.V138L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	134					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGCTGGACCAGTGTGCTTCGT	0.473000													7	108					1.76689e-08	2.75531e-08	1	1	0
EDEM2	55741	broad.mit.edu	37	20	33703722	33703722	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:33703722T>A	ENST00000374492.3	-	11	1356	c.1251A>T	c.(1249-1251)cgA>cgT	p.R417R	EDEM2_ENST00000541621.1_Silent_p.R196R|EDEM2_ENST00000542871.1_Silent_p.R141R|EDEM2_ENST00000374491.2_Silent_p.R380R	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	417					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GCTTGTGGTCTCGCAGATCTT	0.488000													12	57					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209279	3209279	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:3209279A>G	ENST00000380059.3	-	18	2497	c.2396T>C	c.(2395-2397)cTg>cCg	p.L799P	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.L756P|SLC4A11_ENST00000380056.3_Missense_Mutation_p.L772P	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	772	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGGGACCGGCAGCAGCAACAG	0.667000													9	62					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344315	56344315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56344315T>A	ENST00000526812.2	-	1	948	c.883A>T	c.(883-885)Aga>Tga	p.R295*		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATTACATCTCTGTTCCGTAGG	0.398000													50	274					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563154	55563154	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:55563154G>C	ENST00000335605.1	+	1	123	c.123G>C	c.(121-123)gtG>gtC	p.V41V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTATCACAGTGGTAGGAAACC	0.393000													33	129					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859293	100859293	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:100859293C>A	ENST00000223127.3	-	5	909	c.511G>T	c.(511-513)Ggt>Tgt	p.G171C		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	171					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTGGCAAAACCGATGAATCCT	0.602000													24	36					6.44725e-10	1.0743e-09	1	1	0
LRRC37A16P	651250	broad.mit.edu	37	17	66126551	66126551	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:66126551G>T	ENST00000590019.1	-	0	298																											CCACAGGGCTGGGCAGAAAGG	0.488000													9	59					1.12685e-05	1.46718e-05	1	1	0
FAM149A	25854	broad.mit.edu	37	4	187086525	187086525	+	Silent	SNP	C	C	T	rs143165577		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:187086525C>T	ENST00000356371.5	+	11	1944	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	FAM149A_ENST00000502970.1_Silent_p.S357S|FAM149A_ENST00000227065.4_Silent_p.S357S|FAM149A_ENST00000389354.5_Silent_p.S357S|FAM149A_ENST00000503432.1_Silent_p.S357S|FAM149A_ENST00000514153.1_Silent_p.S357S			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	648										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		ACATGGCTTCCCCACTGGTTC	0.557000													20	52					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776742	31776742	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:31776742G>C	ENST00000382902.1	-	11	1649	c.1557C>G	c.(1555-1557)tcC>tcG	p.S519S	OTUD7A_ENST00000307050.4_Silent_p.S512S			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	512						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTTGGCCACGGAGTCGGCGC	0.592000													6	28					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43111635	43111635	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:43111635C>A	ENST00000452796.2	-	2	491	c.236G>T	c.(235-237)cGg>cTg	p.R79L	DCAKD_ENST00000342350.5_Missense_Mutation_p.R79L|DCAKD_ENST00000310604.4_Missense_Mutation_p.R79L|DCAKD_ENST00000588499.1_Missense_Mutation_p.R79L|DCAKD_ENST00000588295.1_5'UTR			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	79	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CAGCTGCCGCCGGTCAGGCTG	0.597000													12	62					0.00136819	0.0015572	1	1	0
MC5R	4161	broad.mit.edu	37	18	13826140	13826140	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:13826140G>T	ENST00000324750.3	+	1	598	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	126					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.V126L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTGCATTTCCGTGGTGGCATC	0.527000													13	106					2.61681e-11	4.57095e-11	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64604632	64604632	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:64604632G>T	ENST00000357395.3	+	80	15073	c.3929G>T	c.(3928-3930)tGg>tTg	p.W1310L	SYNE2_ENST00000555002.1_Missense_Mutation_p.W1559L|SYNE2_ENST00000344113.4_Missense_Mutation_p.W4925L|SYNE2_ENST00000554584.1_Missense_Mutation_p.W4842L|SYNE2_ENST00000358025.3_Missense_Mutation_p.W4925L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.W1310L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4925					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAGCAGTGGTTGTCCCTG	0.517000													7	47					1.06961e-07	1.61367e-07	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7645557	7645557	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:7645557G>T	ENST00000340209.4	+	5	787	c.490G>T	c.(490-492)Ggt>Tgt	p.G164C	RBFOX1_ENST00000355637.4_Missense_Mutation_p.G179C|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G202C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G179C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G159C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G176C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G159C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G202C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G159C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G179C			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	159	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCAGGGATTTGGTTTCGTAAC	0.448000													24	118					1.1804e-14	2.24715e-14	1	1	0
DYTN	391475	broad.mit.edu	37	2	207564607	207564607	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:207564607C>G	ENST00000452335.2	-	7	679	c.563G>C	c.(562-564)aGc>aCc	p.S188T	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	188						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GATTGCTGGGCTCAACACCTG	0.453000													8	39					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714815	52714815	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:52714815G>A	ENST00000293670.3	-	1	367	c.305C>T	c.(304-306)cCc>cTc	p.P102L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	102	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCGCGTTGGGGTCTATCTC	0.632000													24	124					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023380	18023380	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:18023380C>G	ENST00000205890.5	+	2	1604	c.1266C>G	c.(1264-1266)caC>caG	p.H422Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	422	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTCGCCCCACAACCCGTATG	0.667000													11	48					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98829158	98829158	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:98829158G>T	ENST00000267291.6	-	1	361	c.333C>A	c.(331-333)acC>acA	p.T111T	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	111							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGAAGTCAGCGGTGGCCCCCA	0.692000													9	55					1.76689e-08	2.75531e-08	1	1	0
OR4N2	390429	broad.mit.edu	37	14	20296046	20296046	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20296046G>A	ENST00000568211.1	+	1	439	c.439G>A	c.(439-441)Gct>Act	p.A147T	OR4N2_ENST00000315947.1_Missense_Mutation_p.A147T			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATGATGTTGGCTCTGTGGCT	0.522000													28	329					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751892	247751892	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247751892C>A	ENST00000320065.1	+	1	231	c.231C>A	c.(229-231)acC>acA	p.T77T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTGCTTCACCAGCAGTGTTA	0.493000													25	165					5.45024e-15	1.04159e-14	1	1	0
ZNHIT6	54680	broad.mit.edu	37	1	86173680	86173680	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:86173680C>A	ENST00000370574.3	-	1	421	c.288G>T	c.(286-288)tgG>tgT	p.W96C	ZNHIT6_ENST00000431532.2_Intron			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	96	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCTGTTCTACCCACTGGCCAG	0.512000													13	80					0.00010058	0.000121664	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996282	140996282	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:140996282G>T	ENST00000285879.4	+	4	3378	c.3092G>T	c.(3091-3093)gGg>gTg	p.G1031V	MAGEC1_ENST00000406005.2_Missense_Mutation_p.G98V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1031	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCGTGCTGGGAGGGAGCAC	0.537000										HNSCC(15;0.026)			21	105					3.51602e-12	6.30502e-12	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463835	25463835	+	RNA	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:25463835C>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA|SNHG14_ENST00000365067.1_RNA	NR_003305.1																						AATAGGATTACGCTGAGGCCC	0.537000													55	287					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898958	37898958	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:37898958A>T	ENST00000309156.4	+	3	552	c.295A>T	c.(295-297)Agc>Tgc	p.S99C	GRB7_ENST00000309185.3_Missense_Mutation_p.S99C|GRB7_ENST00000394204.1_Missense_Mutation_p.S99C|GRB7_ENST00000394209.2_Missense_Mutation_p.S99C|GRB7_ENST00000394211.3_Missense_Mutation_p.S99C|GRB7_ENST00000445327.2_Missense_Mutation_p.S122C|GRB7_ENST00000578702.1_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	99					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCGCGATGCCAGCCGCCCCCA	0.642000													12	71					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691532	142691532	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:142691532T>A	ENST00000230173.6	+	4	1147	c.671T>A	c.(670-672)cTa>cAa	p.L224Q	GPR126_ENST00000367608.2_Missense_Mutation_p.L224Q|GPR126_ENST00000296932.8_Missense_Mutation_p.L224Q|GPR126_ENST00000367609.3_Missense_Mutation_p.L224Q|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	224	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGCTACTTTCTATCCATTTCT	0.388000													6	42					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962846	96962846	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:96962846C>T	ENST00000389672.5	+	5	1359	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	EPHA6_ENST00000470610.2_Missense_Mutation_p.L441F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	346	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGAAACAGCCCTTATTTTGGA	0.398000													5	28					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24572338	24572338	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:24572338C>A	ENST00000336812.4	-	3	796	c.640G>T	c.(640-642)Ggc>Tgc	p.G214C		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	214	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACTTCCTGGCCCAACATCACA	0.458000													13	93					0.00136819	0.0015572	1	1	0
HERC6	55008	broad.mit.edu	37	4	89358919	89358919	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:89358919G>T	ENST00000380265.5	+	19	2616	c.2433G>T	c.(2431-2433)gtG>gtT	p.V811V	HERC6_ENST00000264346.7_Silent_p.V847V	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	847	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCATACCTGTGGACCAAACCA	0.303000													4	12					0.150653	0.154188	1	1	0
HFM1	164045	broad.mit.edu	37	1	91781504	91781504	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:91781504G>T	ENST00000370425.3	-	28	3106	c.3008C>A	c.(3007-3009)gCa>gAa	p.A1003E	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.A235E|HFM1_ENST00000370424.3_Missense_Mutation_p.A682E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1003	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAATATTTCTGCCGTCGTATC	0.318000													4	31					0.00024832	0.000296266	1	1	0
GLP2R	9340	broad.mit.edu	37	17	9792969	9792969	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:9792969G>T	ENST00000262441.5	+	13	2122	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	GLP2R_ENST00000574745.1_Missense_Mutation_p.D357Y	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	537					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.D537Y(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CAGTGAGGGGGATGTCACCAT	0.632000													6	15					5.9392e-07	8.50177e-07	1	1	0
ANK2	287	broad.mit.edu	37	4	114251464	114251464	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:114251464G>T	ENST00000357077.4	+	27	3016	c.2963G>T	c.(2962-2964)gGg>gTg	p.G988V	ANK2_ENST00000509550.1_Missense_Mutation_p.G197V|ANK2_ENST00000264366.6_Missense_Mutation_p.G988V|ANK2_ENST00000394537.3_Missense_Mutation_p.G988V|ANK2_ENST00000506722.1_Missense_Mutation_p.G979V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	988	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGACACAATGGGCTCCGAATC	0.463000													8	32					0.307466	0.310185	1	1	0
DET1	55070	broad.mit.edu	37	15	89079562	89079562	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:89079562C>G	ENST00000564406.1	-	2	164	c.4G>C	c.(4-6)Gtg>Ctg	p.V2L	DET1_ENST00000558413.1_Intron|DET1_ENST00000559656.1_Intron|DET1_ENST00000444300.1_Missense_Mutation_p.V2L|DET1_ENST00000268148.8_Intron	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	0						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			atctgtcccaccataccagag	0.378000													3	15					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234463172	234463172	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:234463172C>A	ENST00000251722.6	-	6	664	c.546_splice	c.e6-1	p.E183_splice	USP40_ENST00000450966.1_Splice_Site_p.E195_splice|USP40_ENST00000427112.2_Splice_Site_p.E183_splice			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	183					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAAGTCTTCCTGAAATAGA	0.318000													6	63					3.59834e-05	4.51849e-05	1	1	0
TENM4	26011	broad.mit.edu	37	11	78440540	78440540	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:78440540G>T	ENST00000278550.7	-	22	3749	c.3287C>A	c.(3286-3288)gCg>gAg	p.A1096E		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCCCTCCACCGCTACCATGAG	0.557000													6	32					3.59834e-05	4.51849e-05	1	1	0
CSTL1	128817	broad.mit.edu	37	20	23424653	23424653	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:23424653G>A	ENST00000347397.1	+	3	548	c.302G>A	c.(301-303)tGc>tAc	p.C101Y	CSTL1_ENST00000246020.2_Missense_Mutation_p.C101Y	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	101						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AATTCTTCCTGCCCCCTGCAA	0.463000													7	34					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21467516	21467516	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:21467516A>T	ENST00000307378.6	-	5	1022	c.302T>A	c.(301-303)tTc>tAc	p.F101Y	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F101Y|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F99Y|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	101					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TGATTTTAAGAAACAGCCTAA	0.368000													28	101					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71061515	71061515	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:71061515G>C	ENST00000393567.2	-	20	3182	c.3032C>G	c.(3031-3033)gCt>gGt	p.A1011G	HYDIN_ENST00000321489.5_Missense_Mutation_p.A1011G|HYDIN_ENST00000448691.1_Missense_Mutation_p.A1011G|HYDIN_ENST00000448089.2_Missense_Mutation_p.A1011G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1011										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)				CCTGGGAGTAGCAGAATAGCC	0.473000													4	44					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27852654	27852654	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:27852654G>C	ENST00000299340.4	-	3	614	c.271C>G	c.(271-273)Cac>Gac	p.H91D	CYYR1_ENST00000400043.3_Missense_Mutation_p.H91D|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	91						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTCGCCCTGTGGTTCTTCATG	0.502000													14	95					0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13876905	13876905	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:13876905C>A	ENST00000040663.6	+	3	549	c.509C>A	c.(508-510)aCt>aAt	p.T170N	MRI1_ENST00000319545.8_Intron	NM_001031727.2	NP_001026897.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	170					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CACTGTAACACTGGTGCTCTG	0.607000													5	25					0.014758	0.0158251	1	1	0
S100A7	6278	broad.mit.edu	37	1	153430329	153430329	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:153430329G>T	ENST00000368723.3	-	3	369	c.259C>A	c.(259-261)Cac>Aac	p.H87N	S100A7_ENST00000368722.1_Missense_Mutation_p.H87N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	87					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTGCTTGTGGTAGTCTGTG	0.512000													16	132					2.94398e-08	4.56687e-08	1	1	0
U2AF1L4	199746	broad.mit.edu	37	19	36233657	36233657	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:36233657T>A	ENST00000412391.2	-	8	639	c.626A>T	c.(625-627)cAt>cTt	p.H209L	U2AF1L4_ENST00000378975.3_Missense_Mutation_p.H170L|AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.I151F			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	209					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAACACCGATGGTTCCTCTC	0.602000													18	98					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160523633	160523633	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:160523633G>T	ENST00000356956.1	+	46	7073	c.6925G>T	c.(6925-6927)Gtg>Ttg	p.V2309L	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2309					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGTCGGCGCGGTGCTCAGCCT	0.662000													6	28					0.0215528	0.0228632	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77759467	77759467	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:77759467C>T	ENST00000407578.2	-	32	4756	c.4490G>A	c.(4489-4491)tGt>tAt	p.C1497Y	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.C1459Y|MYCBP2_ENST00000357337.6_Missense_Mutation_p.C1459Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTCCAATACACTCTGCTAA	0.338000													14	152					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125052168	125052168	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:125052168G>T	ENST00000522917.1	+	20	2716	c.2510G>T	c.(2509-2511)gGc>gTc	p.G837V	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G837V|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	837	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAGCCCGGGGCCTCATCGCA	0.502000													20	110					5.35267e-07	7.7068e-07	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754042	140754042	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140754042C>A	ENST00000517434.1	+	1	392	c.392C>A	c.(391-393)cCc>cAc	p.P131H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAATACACCCCGATTCTTA	0.443000													5	66					0.0293803	0.0309453	1	1	0
NAV3	89795	broad.mit.edu	37	12	78593118	78593118	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:78593118G>T	ENST00000397909.2	+	37	6695	c.6522G>T	c.(6520-6522)tgG>tgT	p.W2174C	NAV3_ENST00000541270.1_Missense_Mutation_p.W4C|NAV3_ENST00000536525.2_Missense_Mutation_p.W2152C|NAV3_ENST00000266692.7_Missense_Mutation_p.W1975C|NAV3_ENST00000228327.6_Missense_Mutation_p.W2152C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2174						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						TTTGTAGGTGGGTATTATGTG	0.259000										HNSCC(70;0.22)			10	74					0.000673444	0.000778424	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125826090	125826090	+	Splice_Site	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:125826090C>G	ENST00000393434.2	-	21	2697		c.e21-1		ALDH1L1_ENST00000452905.2_Splice_Site|ALDH1L1_ENST00000273450.3_Splice_Site|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Splice_Site|ALDH1L1_ENST00000393431.2_Splice_Site	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1						10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGAAGAACCCTGCAAGAGAG	0.567000													19	98					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149895727	149895727	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:149895727G>T	ENST00000445323.2	+	5	514	c.393G>T	c.(391-393)gtG>gtT	p.V131V	MTMR1_ENST00000542156.1_Silent_p.V123V|MTMR1_ENST00000544228.1_Silent_p.V123V|MTMR1_ENST00000538506.1_Silent_p.V10V|MTMR1_ENST00000541925.1_Silent_p.V29V|MTMR1_ENST00000451863.2_Silent_p.V123V|MTMR1_ENST00000370390.3_Silent_p.V123V			Q13613	MTMR1_HUMAN	myotubularin related protein 1	123	GRAM.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAGCAGTGAGTGGAACCC	0.368000													17	84					1.9806e-07	2.94017e-07	1	1	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724389	50724389	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:50724389T>A	ENST00000515869.1	-	6	2296	c.2176A>T	c.(2176-2178)Atg>Ttg	p.M726L	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.M258L|PGBD3_ENST00000508005.2_Missense_Mutation_p.M258L|PGBD3_ENST00000603152.1_Missense_Mutation_p.M726L|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.M726L	NM_001277059.1	NP_001263988.1																					ACAAATTTCATGCATCTCTCA	0.358000													4	45					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577950	9577950	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:9577950T>C	ENST00000301480.4	-	10	1886	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTGGTAAGATATGAGCACTT	0.398000													26	100					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39772720	39772720	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:39772720G>A	ENST00000553728.1	+	15	2773	c.2560G>A	c.(2560-2562)Gct>Act	p.A854T	CTAGE5_ENST00000341502.5_Missense_Mutation_p.A319T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A290T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A244T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A319T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A290T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A290T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A307T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A319T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A324T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A239T																							ACTGATTCATGCTGCTAAGGT	0.333000													11	81					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670389	49670389	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:49670389C>G	ENST00000561648.1	-	4	2727	c.2674G>C	c.(2674-2676)Ggg>Cgg	p.G892R	ZNF423_ENST00000535559.1_Missense_Mutation_p.G775R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G775R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G892R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G832R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G832R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G832R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	892					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TAGGCCGCCCCACAGATGTCA	0.617000													13	68					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2779569	2779569	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:2779569C>T	ENST00000381163.3	+	9	1219	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	GYG2_ENST00000542787.1_Missense_Mutation_p.H313Y|GYG2_ENST00000338623.5_Missense_Mutation_p.H313Y|GYG2_ENST00000398806.3_Missense_Mutation_p.H282Y|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	313			H -> R (in dbSNP:rs2306735).		glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				GCAGCTTTGCCACAGTGATGT	0.592000													6	13					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957770	1957770	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:1957770G>A	ENST00000382895.3	+	17	3167	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K	WHSC1_ENST00000382888.3_Silent_p.K260K|WHSC1_ENST00000382891.5_Silent_p.K912K|WHSC1_ENST00000382892.2_Silent_p.K912K|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Silent_p.K912K	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	912	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGAAAATGAAGCACGAGATTG	0.453000			T	IGH@	MM								48	269					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62069998	62069998	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:62069998G>T	ENST00000354587.3	-	7	1179	c.1003C>A	c.(1003-1005)Ccg>Acg	p.P335T	KCNQ2_ENST00000359689.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000370222.3_Missense_Mutation_p.P335T|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.P335T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P335T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000344462.3_Missense_Mutation_p.P335T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P335T|KCNQ2_ENST00000370221.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000370226.1_Missense_Mutation_p.P335T|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P335T			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	335					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCTGCTGCCGGGTTCCGCCTC	0.622000													6	66					8.12818e-05	9.91291e-05	1	1	0
DAGLA	747	broad.mit.edu	37	11	61511784	61511784	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:61511784G>T	ENST00000257215.5	+	20	3068	c.2952G>T	c.(2950-2952)tcG>tcT	p.S984S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	984					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACCCCTCCTCGGGCATCTCAC	0.672000													11	61					6.40141e-05	7.91768e-05	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17228483	17228483	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:17228483G>C	ENST00000261381.6	-	9	1958	c.1874C>G	c.(1873-1875)cCg>cGg	p.P625R	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	625					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGCAGGCCCGGGGTACCTGC	0.577000													8	119					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13867010	13867010	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:13867010G>T	ENST00000284951.5	-	9	898	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.S275Y			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	275						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTCACTGTTAGAACTCAGATT	0.358000													22	55					8.04996e-18	1.58751e-17	1	1	0
UTRN	7402	broad.mit.edu	37	6	145115049	145115049	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:145115049G>C	ENST00000367545.3	+	62	9000	c.9000G>C	c.(8998-9000)caG>caC	p.Q3000H	UTRN_ENST00000367526.4_Missense_Mutation_p.Q555H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3000	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGCCATCCAGATCCCCCGGC	0.507000													15	86					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658450	142658450	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142658450G>C	ENST00000355265.2	-	3	694	c.220C>G	c.(220-222)Cct>Gct	p.P74A	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	74					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGCTTACGAGGGCCACAGTTC	0.607000													4	47					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805604	70805604	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:70805604C>T	ENST00000358731.4	+	17	2948	c.2685C>T	c.(2683-2685)acC>acT	p.T895T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	895	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTGATGACACCATAGAAATGG	0.408000													6	102					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736411	26736411	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:26736411G>T	ENST00000529632.2	+	10	2221	c.2025G>T	c.(2023-2025)ctG>ctT	p.L675L	SEZ6L_ENST00000360929.3_Silent_p.L675L|SEZ6L_ENST00000248933.6_Silent_p.L675L|SEZ6L_ENST00000343706.4_Silent_p.L675L|SEZ6L_ENST00000402979.1_Silent_p.L448L|SEZ6L_ENST00000404234.3_Silent_p.L675L|SEZ6L_ENST00000403121.1_Silent_p.L448L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	675	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCTGAATCTGAGCAACAGTG	0.473000													27	159					3.57733e-08	5.5033e-08	1	1	0
THNSL1	79896	broad.mit.edu	37	10	25312233	25312233	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:25312233A>T	ENST00000524413.1	+	3	428	c.81A>T	c.(79-81)aaA>aaT	p.K27N	THNSL1_ENST00000376356.4_Missense_Mutation_p.K27N			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	27					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAACGGATAAACATGCACAGC	0.368000													30	85					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785111	90785111	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:90785111A>T	ENST00000558017.1	+	4	1391	c.971A>T	c.(970-972)gAc>gTc	p.D324V	GDPGP1_ENST00000329600.6_Missense_Mutation_p.D324V	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	324					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GGGATAAAGGACGGTGAAGCT	0.597000													22	57					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167716	140167716	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140167716C>A	ENST00000504120.2	+	1	1841	c.1841C>A	c.(1840-1842)gCa>gAa	p.A614E	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A614E	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCCGGCAGCAGGCGGC	0.677000													14	79					1.3612e-06	1.90261e-06	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8486054	8486054	+	Missense_Mutation	SNP	G	G	T	rs139889630	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:8486054G>T	ENST00000381196.4	-	25	3306	c.2763C>A	c.(2761-2763)ttC>ttA	p.F921L	PTPRD_ENST00000360074.4_Missense_Mutation_p.F908L|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.F921L|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.F899L|PTPRD_ENST00000540109.1_Missense_Mutation_p.F921L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	921	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTTTTGAGGGAATCCAGTTG	0.483000										TSP Lung(15;0.13)			9	73					1.12685e-05	1.46718e-05	1	1	0
PSG11	5680	broad.mit.edu	37	19	43528895	43528895	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:43528895C>T	ENST00000401740.1	-	2	481	c.378G>A	c.(376-378)aaG>aaA	p.K126K	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Silent_p.K126K|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	126	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATCACCTCGCTTTATGATGT	0.498000													32	174					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783930	140783930	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140783930A>G	ENST00000573521.1	+	1	1411	c.1411A>G	c.(1411-1413)Atc>Gtc	p.I471V	PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTTCCATCTTCTCCGT	0.478000													14	64					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114264292	114264292	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:114264292T>C	ENST00000357077.4	+	34	4295	c.4242T>C	c.(4240-4242)ttT>ttC	p.F1414F	ANK2_ENST00000509550.1_Silent_p.F590F|ANK2_ENST00000264366.6_Silent_p.F1381F|ANK2_ENST00000394537.3_Silent_p.F1414F|ANK2_ENST00000510275.2_Silent_p.F66F|ANK2_ENST00000506722.1_Silent_p.F1405F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1381					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCCTCTATTTGTCAAGGTAA	0.323000													13	62					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10317597	10317597	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:10317597G>T	ENST00000403437.2	-	11	1014	c.920C>A	c.(919-921)aCc>aAc	p.T307N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	307	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGGTTGGTGGTGATCAGGAG	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	188					1.28384e-07	1.91158e-07	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112357684	112357684	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:112357684G>T	ENST00000206423.3	-	2	2022	c.1069C>A	c.(1069-1071)Cca>Aca	p.P357T	CCDC80_ENST00000439685.2_Missense_Mutation_p.P357T	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	357	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GTTGTGGCTGGGGCAGGAGGA	0.632000													4	67					0.00024832	0.000296266	1	1	0
FLG2	388698	broad.mit.edu	37	1	152328134	152328134	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152328134C>A	ENST00000388718.5	-	3	2200	c.2128G>T	c.(2128-2130)Ggg>Tgg	p.G710W	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	710	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACTTGACCCATGTTGACCA	0.473000													63	562					7.92265e-33	1.64326e-32	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99764758	99764758	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:99764758T>A	ENST00000370185.3	+	4	1203	c.706T>A	c.(706-708)Tct>Act	p.S236T	LPPR4_ENST00000370184.1_Missense_Mutation_p.S78T|LPPR4_ENST00000457765.1_Missense_Mutation_p.S236T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		236							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTGCTCAGGATCTGACCTCAC	0.373000													11	48					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51673485	51673485	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:51673485G>T	ENST00000409535.1	+	12	2036	c.1911G>T	c.(1909-1911)ttG>ttT	p.L637F	RAD54L2_ENST00000296477.3_Missense_Mutation_p.L331F	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	637						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGGAGAGCTTGGCCAATGAGC	0.527000													7	49					0.00307968	0.00344432	1	1	0
OR52I2	143502	broad.mit.edu	37	11	4608496	4608496	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:4608496C>A	ENST00000312614.4	+	1	476	c.454C>A	c.(454-456)Cgc>Agc	p.R152S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGACCGCTATGTAGC	0.488000													9	58					0.000673444	0.000778424	1	1	0
HGF	3082	broad.mit.edu	37	7	81374413	81374413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:81374413C>A	ENST00000222390.5	-	6	875	c.649G>T	c.(649-651)Gag>Tag	p.E217*	HGF_ENST00000444829.2_Nonsense_Mutation_p.E217*|HGF_ENST00000453411.1_Nonsense_Mutation_p.E212*|HGF_ENST00000457544.2_Nonsense_Mutation_p.E212*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	217	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGATAACTCTCCCCATTGCAG	0.403000													44	44					3.39706e-21	6.84488e-21	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11579501	11579501	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:11579501A>T	ENST00000294484.6	+	8	2117	c.1979A>T	c.(1978-1980)cAg>cTg	p.Q660L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q660L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	660					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCTGCCCAGGGCCCCATA	0.632000													30	159					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45216964	45216964	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:45216964C>A	ENST00000242249.4	+	2	153	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	RAMP3_ENST00000481345.1_Missense_Mutation_p.L39M|RAMP3_ENST00000496212.1_Missense_Mutation_p.L39M	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	39					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GAGGCTGCCCCTGTGTGGGAA	0.592000													5	55					0.0215528	0.0228632	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107865950	107865950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:107865950G>T	ENST00000328300.6	+	33	3056	c.2812G>T	c.(2812-2814)Gga>Tga	p.G938*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.G938*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	938	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGCCCTACAGGAGAAAAAGG	0.463000									Alport syndrome with Diffuse Leiomyomatosis				23	58					2.98393e-07	4.35548e-07	1	1	0
DPRX	503834	broad.mit.edu	37	19	54139926	54139926	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:54139926A>C	ENST00000376650.1	+	3	311	c.260A>C	c.(259-261)cAa>cCa	p.Q87P		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	87						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAAACTCCACAACCGCCAATA	0.502000													14	72					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581437	33581437	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:33581437C>T	ENST00000321505.4	+	6	3287	c.3107C>T	c.(3106-3108)cCg>cTg	p.P1036L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P1042L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1042L					KIAA1549-like									p.P1042L(1)									CTCACCTATCCGCCGCTAACC	0.562000													25	137					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74519687	74519687	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:74519687C>T	ENST00000373379.1	+	5	845	c.680C>T	c.(679-681)cCa>cTa	p.P227L	UPRT_ENST00000373383.4_Missense_Mutation_p.P227L|UPRT_ENST00000530743.1_Missense_Mutation_p.P91L			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	227					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AAATTCCCCCCAGACATTTAC	0.413000													32	181					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97677144	97677144	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:97677144C>T	ENST00000275053.4	-	14	1930	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	MMS22L_ENST00000369251.2_Silent_p.L515L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	555					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGAGGAAATTCAGGAGGTCTA	0.428000													10	54					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44152230	44152230	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:44152230G>C	ENST00000223357.3	+	18	2596	c.2291G>C	c.(2290-2292)gGc>gCc	p.G764A	AEBP1_ENST00000450684.2_Missense_Mutation_p.G339A	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	764	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AATCTGAACGGCGGCGAGCGG	0.647000													9	45					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967967	54967967	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:54967967C>A	ENST00000326902.2	+	2	1107	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	265						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GAAGGGCACGCAGAGGAACAG	0.597000													15	63					1.15088e-07	1.71878e-07	1	1	0
SV2C	22987	broad.mit.edu	37	5	75428131	75428131	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:75428131C>G	ENST00000502798.2	+	2	998	c.556C>G	c.(556-558)Cca>Gca	p.P186A	SV2C_ENST00000322285.7_Missense_Mutation_p.P186A	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	186					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCTCTGCATCCCAAATTCAGG	0.488000													10	92					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398444	75398444	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:75398444C>T	ENST00000329047.8	+	2	1138	c.326C>T	c.(325-327)cCg>cTg	p.P109L	SEPT9_ENST00000590294.1_Missense_Mutation_p.P109L|SEPT9_ENST00000591198.1_Missense_Mutation_p.P108L|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.P120L|SEPT9_ENST00000427177.1_Missense_Mutation_p.P127L	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	127					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCCATCGGCCCGTCCCGGTTC	0.677000													7	21					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114002147	114002147	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:114002147C>A	ENST00000429538.3	-	4	440	c.246G>T	c.(244-246)aaG>aaT	p.K82N	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.K82N|PAX8_ENST00000348715.5_Missense_Mutation_p.K82N|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.K82N|PAX8_ENST00000263335.7_Missense_Mutation_p.K82N	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	82	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GGGTGGCCACCTTGGGCTTGG	0.577000			T	PPARG	follicular thyroid		Thyroid dysgenesis						29	245					1.13719e-10	1.95191e-10	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102910132	102910132	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:102910132G>T	ENST00000359520.7	+	12	3127	c.2901G>T	c.(2899-2901)ccG>ccT	p.P967P	TECPR2_ENST00000558678.1_Silent_p.P967P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	967							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTTCTGTCCGGAAGGCGAGC	0.597000													3	33					0.00024832	0.000296266	1	1	0
SLC22A10	387775	broad.mit.edu	37	11	63059081	63059081	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:63059081G>C	ENST00000544661.1	+	3	435	c.7G>C	c.(7-9)Gtg>Ctg	p.V3L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.V106L|SLC22A10_ENST00000332793.6_Missense_Mutation_p.V158L|SLC22A10_ENST00000535888.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	158						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAATGCTGGTGGGAGGCAT	0.438000													14	97					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216290	149216290	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:149216290C>A	ENST00000309241.5	+	8	2304	c.2272C>A	c.(2272-2274)Cat>Aat	p.H758N	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.H694N|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.H719N|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.H758N	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	758					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCTGAGAGACCATGAGATCCG	0.632000													16	114					6.72482e-11	1.15829e-10	1	1	0
BAHCC1	57597	broad.mit.edu	37	17	79427988	79427988	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:79427988C>T	ENST00000307745.7	+	30	6299	c.6299C>T	c.(6298-6300)gCg>gTg	p.A2100V																								AGCTGGTCCGCGGTGGCGCAG	0.677000													6	30					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161520890	161520890	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:161520890G>C	ENST00000356592.3	+	2	624	c.164G>C	c.(163-165)tGg>tCg	p.W55S	GABRG2_ENST00000361925.4_Missense_Mutation_p.W55S|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.W55S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	55					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AACAAAACATGGGTCTTGACT	0.378000													22	105					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625849	142625849	+	Missense_Mutation	SNP	G	G	T	rs111950088		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142625849G>T	ENST00000265310.1	-	6	1047	c.699C>A	c.(697-699)gaC>gaA	p.D233E	TRPV5_ENST00000442623.1_Missense_Mutation_p.D233E	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	233					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGGGCACAAGGTCCAGGGGCT	0.562000													5	45					0.000602214	0.000697722	1	1	0
CD200R1	131450	broad.mit.edu	37	3	112647835	112647835	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:112647835C>A	ENST00000471858.1	-	4	760	c.528G>T	c.(526-528)gcG>gcT	p.A176A	CD200R1_ENST00000295863.4_Silent_p.A154A|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000308611.3_Silent_p.A199A	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	176	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.A199A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGGAGATATGCGCAGCTGGCT	0.498000													6	44					3.59834e-05	4.51849e-05	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237825	140237825	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140237825G>T	ENST00000307360.5	+	1	2192	c.2192G>T	c.(2191-2193)gGg>gTg	p.G731V	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCATGTGGGCCGGTGAAG	0.672000													6	42					0.217242	0.220363	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43247047	43247047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:43247047G>T	ENST00000255226.6	+	13	2521	c.1705G>T	c.(1705-1707)Gag>Tag	p.E569*	SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.E569*|SLC14A2_ENST00000589658.1_Nonsense_Mutation_p.E46*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	569						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAGTGTGGAGAGGGACTTAA	0.507000													5	27					0.000602214	0.000697722	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32098644	32098644	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:32098644A>T	ENST00000438447.1	+	23	8510	c.8122A>T	c.(8122-8124)Atg>Ttg	p.M2708L	PDZD2_ENST00000282493.3_Missense_Mutation_p.M2708L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2708					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAGAAAGGGATGGATCAGCC	0.602000													8	22					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005001	42005001	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:42005001C>A	ENST00000395925.3	-	15	3754	c.3670G>T	c.(3670-3672)Ggt>Tgt	p.G1224C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1224					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTGGGCCACCGTAGGGGTTG	0.622000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	70					2.17888e-05	2.77601e-05	1	1	0
SIGLEC15	284266	broad.mit.edu	37	18	43417013	43417013	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:43417013A>G	ENST00000389474.3	+	2	289	c.72A>G	c.(70-72)aaA>aaG	p.K24K	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_5'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	24						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						tgagaactaaaatagatacta	0.428000													9	57					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109491	228109491	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:228109491C>G	ENST00000272164.5	-	4	836	c.826G>C	c.(826-828)Ggg>Cgg	p.G276R	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	276					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CCACCTGCCCCCGAGGCACGG	0.682000													7	69					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90509430	90509430	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:90509430G>C	ENST00000335725.4	+	17	2020	c.1770G>C	c.(1768-1770)tgG>tgC	p.W590C	TDP1_ENST00000393454.2_Missense_Mutation_p.W590C|TDP1_ENST00000555880.1_Missense_Mutation_p.G554A|TDP1_ENST00000357382.3_Missense_Mutation_p.W351C|TDP1_ENST00000393452.3_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	590					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CATGGATATGGAACATTCCTT	0.418000								Repair of DNA-protein crosslinks					6	72					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138264108	138264108	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:138264108G>T	ENST00000343526.4	+	15	2631	c.2416G>T	c.(2416-2418)Gat>Tat	p.D806Y	TRIM24_ENST00000415680.2_Missense_Mutation_p.D772Y			O15164	TIF1A_HUMAN	tripartite motif containing 24	806					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGAATGGTTGGATCCTTCCCA	0.483000													14	91					6.72482e-11	1.15829e-10	1	1	0
CD1B	910	broad.mit.edu	37	1	158299678	158299678	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158299678C>A	ENST00000368168.3	-	3	678	c.571G>T	c.(571-573)Gtc>Ttc	p.V191F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	191	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCATTGAGGACGCCCAAGAGA	0.438000													28	182					2.79863e-10	4.7217e-10	1	1	0
MYH6	4624	broad.mit.edu	37	14	23872002	23872002	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:23872002C>T	ENST00000405093.3	-	11	976	c.906G>A	c.(904-906)ctG>ctA	p.L302L	MYH6_ENST00000356287.3_Silent_p.L302L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	302	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGTGACCAGCAGCATGTCTG	0.632000													4	28					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105231977	105231977	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:105231977T>A	ENST00000262903.4	-	14	1826	c.1550A>T	c.(1549-1551)cAt>cTt	p.H517L	HACE1_ENST00000369125.2_Missense_Mutation_p.H517L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	517					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTTTATGATATGCATGAATCT	0.254000													14	89					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821304	5821304	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:5821304A>G	ENST00000381095.3	-	5	2042	c.1415T>C	c.(1414-1416)tTc>tCc	p.F472S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.F472S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.F492S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F472S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.F472S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	472					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						GTGATGATAGAAGGCATAGAA	0.617000													16	53					0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24207567	24207567	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:24207567A>T	ENST00000309033.4	+	6	694	c.450A>T	c.(448-450)aaA>aaT	p.K150N	UBXN2A_ENST00000535786.1_Intron|UBXN2A_ENST00000404924.1_Missense_Mutation_p.K150N|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	150										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TTGTTTCTAAAGCAAAGAATA	0.294000													9	47					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28273019	28273019	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:28273019C>A	ENST00000354638.3	-	4	668	c.513G>T	c.(511-513)ctG>ctT	p.L171L	OCA2_ENST00000353809.5_Silent_p.L171L|OCA2_ENST00000382996.2_Silent_p.L171L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	171					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCGCCTACCTCAGCTTGGAAA	0.612000									Oculocutaneous Albinism				4	50					0.184627	0.187793	1	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75927084	75927084	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:75927084C>A	ENST00000262207.4	+	6	1132	c.664C>A	c.(664-666)Cgg>Agg	p.R222R	CRISPLD1_ENST00000523524.1_Silent_p.R34R|CRISPLD1_ENST00000517786.1_Silent_p.R36R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	222						extracellular region		p.R222W(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAACATGGGCGGCCCTGTTC	0.423000													3	30					0.00024832	0.000296266	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108923747	108923747	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:108923747A>T	ENST00000263054.6	-	1	545	c.538T>A	c.(538-540)Tgg>Agg	p.W180R	SORCS1_ENST00000344440.6_Missense_Mutation_p.W180R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	180						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGCCAGACCAGTGGACCATG	0.562000													7	34					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128319902	128319902	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:128319902T>A	ENST00000368227.3	-	17	3044	c.2678A>T	c.(2677-2679)aAg>aTg	p.K893M	PTPRK_ENST00000532331.1_Missense_Mutation_p.K897M|PTPRK_ENST00000368226.4_Missense_Mutation_p.K881M|PTPRK_ENST00000368213.5_Missense_Mutation_p.K881M|PTPRK_ENST00000368207.3_Missense_Mutation_p.K907M|PTPRK_ENST00000368210.3_Missense_Mutation_p.K893M|PTPRK_ENST00000368215.3_Missense_Mutation_p.K880M			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	880	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTCTGATGTCTTCATGAGATT	0.428000													16	88					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148597628	148597628	+	Missense_Mutation	SNP	C	C	A	rs149879184	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:148597628C>A	ENST00000296046.3	+	6	580	c.528C>A	c.(526-528)caC>caA	p.H176Q	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	176					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GTGGCATTCACGCACGAGAAT	0.408000													14	115					4.3838e-07	6.31796e-07	1	1	0
ALKBH8	91801	broad.mit.edu	37	11	107427549	107427549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:107427549C>A	ENST00000428149.2	-	3	461	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	ALKBH8_ENST00000417449.2_Nonsense_Mutation_p.E107*|ALKBH8_ENST00000429370.1_Nonsense_Mutation_p.E104*|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Nonsense_Mutation_p.E104*	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	104	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	p.E104*(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCCACTACTTCTTTTCCATTG	0.353000													8	75					3.09899e-07	4.50568e-07	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147869345	147869345	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:147869345G>A	ENST00000361727.3	+	18	3301	c.2785G>A	c.(2785-2787)Ggc>Agc	p.G929S	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	929	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGTGCTGGGGGCCAGCAGGG	0.512000										HNSCC(39;0.1)			7	61					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629851	32629851	+	Missense_Mutation	SNP	C	C	A	rs9273961		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:32629851C>A	ENST00000399084.1	-	4	732	c.554G>T	c.(553-555)tGg>tTg	p.W185L	HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.W185L|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.W185L|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.W185L|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.W95L			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	185	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGAAAGTCCAGTCACCATT	0.562000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				16	38					3.41278e-10	5.73177e-10	1	1	0
NCOR1P1	149934	broad.mit.edu	37	20	26094525	26094525	+	RNA	SNP	T	T	C	rs62211580	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:26094525T>C	ENST00000478176.1	-	0	139					NR_003678.1													p.H33R(1)									CTGCTGGTGGTGGGTGCTGGG	0.393000													5	24					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20838468	20838468	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:20838468G>C	ENST00000261377.6	+	9	1119	c.910G>C	c.(910-912)Gat>Cat	p.D304H	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.D304H|AC004381.6_ENST00000348433.6_Missense_Mutation_p.D304H	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GCTTCCTCCTGATGCTGTGTT	0.413000													22	167					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108924287	108924287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:108924287C>A	ENST00000340800.2	-	7	1222	c.718G>T	c.(718-720)Gaa>Taa	p.E240*	ACSL4_ENST00000469796.2_Nonsense_Mutation_p.E240*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E199*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	240					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TCAAATCCTTCAGGGTACTCT	0.338000													13	84					3.27435e-08	5.04244e-08	1	1	0
MORC1	27136	broad.mit.edu	37	3	108723663	108723663	+	Splice_Site	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:108723663C>T	ENST00000232603.5	-	20	2168		c.e20+1		MORC1_ENST00000483760.1_Splice_Site	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCTTTTCCCACCTGGGCATTC	0.343000													41	278					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109767479	109767479	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:109767479T>G	ENST00000368952.4	-	19	2788	c.2498A>C	c.(2497-2499)cAg>cCg	p.Q833P	MICAL1_ENST00000358807.3_Missense_Mutation_p.Q814P|MICAL1_ENST00000358577.3_Missense_Mutation_p.Q728P			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	814					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGACAACCGCTGGCGCTCCGG	0.697000													10	82					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178490398	178490398	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:178490398G>T	ENST00000319416.2	+	8	697	c.586_splice	c.e8+1	p.R195_splice	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Splice_Site_p.R119_splice|TEX35_ENST00000367643.3_Splice_Site_p.R195_splice|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Splice_Site_p.R203_splice	NM_032126.4	NP_115502.2			testis expressed 35																		ACTACAATCGGGGTAGGTAGA	0.498000													20	163					7.45023e-12	1.3232e-11	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092551	30092551	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:30092551G>T	ENST00000567636.1	+	0	926					NR_003558.1																						TCATGATGATGATGTTTTTAG	0.483000													5	87					0.014758	0.0158251	1	1	0
RP11-451O13.1	0	broad.mit.edu	37	1	157895812	157895812	+	RNA	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:157895812G>A	ENST00000452528.1	+	0	49																											AGCGCAGTGAGGTGGTGGCAC	0.572000													4	20					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103654	168103654	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:168103654C>A	ENST00000409195.1	+	9	5841	c.5752C>A	c.(5752-5754)Ctc>Atc	p.L1918I	XIRP2_ENST00000409273.1_Missense_Mutation_p.L1696I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1918I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1743					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						AAAGGAGCTTCTCAAAGATGA	0.353000													9	58					0.00448238	0.00498677	1	1	0
TMEM132E	124842	broad.mit.edu	37	17	32964202	32964202	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:32964202C>A	ENST00000321639.5	+	10	2234	c.1906C>A	c.(1906-1908)Cta>Ata	p.L636I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	636						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCAGGAAGCCCTACTGAGCCT	0.592000													9	75					2.17888e-05	2.77601e-05	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215915	20215915	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20215915C>G	ENST00000331723.1	+	1	329	c.329C>G	c.(328-330)gCc>gGc	p.A110G		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTAGGAGCCAGTGAGATG	0.488000													11	85					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100608750	100608750	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:100608750C>T	ENST00000319509.7	+	7	2129	c.2129C>T	c.(2128-2130)cCc>cTc	p.P710L	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CGCGCCGCTCCCACGGGCTAT	0.607000													13	63					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23524511	23524511	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:23524511C>A	ENST00000397359.3	-	3	512	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	CDH24_ENST00000487137.2_Missense_Mutation_p.G85W|CDH24_ENST00000267383.5_Missense_Mutation_p.G85W|CDH24_ENST00000554034.1_Missense_Mutation_p.G85W	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	85	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCCCCCTCCCCGGTCAACAGG	0.562000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					1.12685e-05	1.46718e-05	1	1	0
EPHX4	253152	broad.mit.edu	37	1	92528642	92528642	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:92528642C>A	ENST00000370383.4	+	7	986	c.888C>A	c.(886-888)acC>acA	p.T296T		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	296						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACATGGTGACCACTCCAACAC	0.403000													21	116					6.21321e-17	1.21399e-16	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70917956	70917956	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:70917956G>T	ENST00000393567.2	-	59	9996	c.9846C>A	c.(9844-9846)gtC>gtA	p.V3282V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3282										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)				CAACGTTGATGACCTGCTGTC	0.592000													4	23					0.00909568	0.00987474	1	1	0
DMD	1756	broad.mit.edu	37	X	31986606	31986606	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:31986606C>A	ENST00000357033.4	-	45	6670	c.6464G>T	c.(6463-6465)cGg>cTg	p.R2155L	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.R2151L|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2155			R -> W (in dbSNP:rs1800273).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACAGTTTGCCGCTGCCCAAT	0.403000													10	54					1.58986e-06	2.19736e-06	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43417225	43417225	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:43417225C>T	ENST00000244533.3	+	19	4544	c.4185C>T	c.(4183-4185)acC>acT	p.T1395T	ABCC10_ENST00000372530.4_Silent_p.T1423T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1423	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCAGCAGACCATCTGCAAAC	0.517000													4	47					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	22					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122760479	122760479	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:122760479C>A	ENST00000245838.8	-	24	2823	c.2792G>T	c.(2791-2793)tGt>tTt	p.C931F	THOC2_ENST00000491737.1_Missense_Mutation_p.C816F|THOC2_ENST00000355725.4_Missense_Mutation_p.C931F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	931					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAGGGCAGTACAGCGCTCCTT	0.363000													15	54					6.72482e-11	1.15829e-10	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38237681	38237681	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:38237681T>C	ENST00000379705.3	-	6	2417	c.1560A>G	c.(1558-1560)ctA>ctG	p.L520L	TRPC4_ENST00000355779.2_Silent_p.L520L|TRPC4_ENST00000379681.3_Silent_p.L520L|TRPC4_ENST00000358477.2_Silent_p.L520L|TRPC4_ENST00000447043.1_Silent_p.L520L|TRPC4_ENST00000379679.1_Silent_p.L347L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Silent_p.L347L|TRPC4_ENST00000379673.2_Silent_p.L520L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	520					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTATATGAATAGAAACTTCA	0.398000													25	75					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70970394	70970394	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:70970394C>A	ENST00000357250.6	-	20	1573	c.1415G>T	c.(1414-1416)gGc>gTc	p.G472V	COL9A1_ENST00000370499.4_Missense_Mutation_p.G229V|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G229V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	472	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GCCGGTGATGCCTCGCAAACC	0.348000													7	39					0.0581538	0.0609054	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31471244	31471244	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:31471244C>T	ENST00000457010.2	+	1	1100	c.399C>T	c.(397-399)ctC>ctT	p.L133L	ARMC5_ENST00000563544.1_Silent_p.L133L|ARMC5_ENST00000408912.3_Silent_p.L228L|ARMC5_ENST00000268314.4_Silent_p.L133L|ARMC5_ENST00000538189.1_Silent_p.L165L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	133							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACTTGGCGCTCAGCATCCTAG	0.677000													11	64					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213553	3213553	+	RNA	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:3213553C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CTGCTTCTGCCACCACCGGCC	0.502000													3	27					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260639	134260639	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:134260639G>A	ENST00000457545.2	+	8	963	c.703G>A	c.(703-705)Gtt>Att	p.V235I	AKR1B15_ENST00000423958.1_Missense_Mutation_p.V207I	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	235							oxidoreductase activity	p.V253I(1)|p.V207I(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GGGCATCACCGTTACGGCCTA	0.488000													5	63					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275606	238275606	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:238275606G>T	ENST00000295550.4	-	11	5676	c.5224C>A	c.(5224-5226)Cgg>Agg	p.R1742R	COL6A3_ENST00000347401.3_Silent_p.R1541R|COL6A3_ENST00000346358.4_Silent_p.R1542R|COL6A3_ENST00000472056.1_Silent_p.R1135R|COL6A3_ENST00000353578.4_Silent_p.R1536R|COL6A3_ENST00000409809.1_Silent_p.R1536R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1742	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGGGACCCGCTGGTCCAGG	0.592000													8	49					5.4927e-09	8.74e-09	1	1	0
CLDN16	10686	broad.mit.edu	37	3	190120225	190120225	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:190120225C>G	ENST00000264734.2	+	2	672	c.424C>G	c.(424-426)Ccc>Gcc	p.P142A	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	142					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGCGGAGCATCCCTGTACGTA	0.473000													18	79					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095181	107095181	+	RNA	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:107095181G>C	ENST00000390630.2	-	0	399																											CAGCTTCAGGGAGAACTGGTT	0.542000													16	112					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356415	37356415	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:37356415C>A	ENST00000217420.1	+	2	974	c.711C>A	c.(709-711)ccC>ccA	p.P237P		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	237					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGGGGCTGCCCGTGTCGCAGA	0.582000													8	38					9.70103e-10	1.60744e-09	1	1	0
GP5	2814	broad.mit.edu	37	3	194118785	194118785	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:194118785A>C	ENST00000401815.1	-	1	298	c.227T>G	c.(226-228)cTg>cGg	p.L76R	GP5_ENST00000323007.3_Missense_Mutation_p.L76R			P40197	GPV_HUMAN	glycoprotein V (platelet)	76					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GAGGCGCTGCAGGACGGTCAT	0.612000													5	79					0	0	1	0	0
PLAC8	51316	broad.mit.edu	37	4	84015830	84015830	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:84015830C>A	ENST00000311507.4	-	4	523		c.e4+1		PLAC8_ENST00000515389.1_Splice_Site|PLAC8_ENST00000509973.1_Splice_Site|PLAC8_ENST00000505406.1_Splice_Site|PLAC8_ENST00000426923.2_3'UTR|PLAC8_ENST00000411416.2_Splice_Site	NM_016619.2	NP_057703.1	Q9NZF1	PLAC8_HUMAN	placenta-specific 8											large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CATTGACTCACCATCAGTTTT	0.358000													8	60					0.000274275	0.00032488	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50467635	50467635	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:50467635C>G	ENST00000331340.3	+	8	1025	c.870C>G	c.(868-870)gaC>gaG	p.D290E	IKZF1_ENST00000346667.4_Missense_Mutation_p.D60E|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.D248E|IKZF1_ENST00000359197.5_Missense_Mutation_p.D248E|IKZF1_ENST00000343574.5_Missense_Mutation_p.D203E|IKZF1_ENST00000438033.1_Missense_Mutation_p.D203E|IKZF1_ENST00000349824.4_Missense_Mutation_p.D147E|IKZF1_ENST00000357364.4_Missense_Mutation_p.D203E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	290					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCTGTCCGACACGCCCTACG	0.597000			"""D,T"""	BCL6	"""ALL, DLBCL"""								3	17					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51717814	51717814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:51717814G>A	ENST00000267012.4	-	1	134	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	BIN2_ENST00000604560.1_Nonsense_Mutation_p.Q25*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.Q25*|BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000544402.1_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	25						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						ACCTTCTCCTGGGCCCTGCTA	0.731000													11	34					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811302	5811302	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:5811302T>A	ENST00000381095.3	-	6	2634	c.2007A>T	c.(2005-2007)cgA>cgT	p.R669R	NLGN4X_ENST00000381092.1_Silent_p.R669R|NLGN4X_ENST00000381093.2_Silent_p.R689R|NLGN4X_ENST00000538097.1_Silent_p.R669R|NLGN4X_ENST00000275857.6_Silent_p.R669R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	669					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						TGGAATAATCTCGTTTGGTTT	0.498000													25	136					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31599554	31599554	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:31599554C>T	ENST00000261592.5	-	6	1081	c.784G>A	c.(784-786)Gca>Aca	p.A262T	NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000535475.1_Missense_Mutation_p.A107T|NOL4_ENST00000589544.1_Missense_Mutation_p.A262T|NOL4_ENST00000269185.4_Missense_Mutation_p.A148T|NOL4_ENST00000538587.1_Missense_Mutation_p.A188T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	262						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AAGCTCTCTGCAGCAGAATCA	0.403000													16	64					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375662	104375662	+	Missense_Mutation	SNP	G	G	T	rs144712629		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:104375662G>T	ENST00000361820.3	-	6	3362	c.2762C>A	c.(2761-2763)aCg>aAg	p.T921K	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	921					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCATACCTCCGTGACAGCAAA	0.433000													5	44					0.0215528	0.0228632	1	1	0
TNR	7143	broad.mit.edu	37	1	175365882	175365882	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:175365882C>A	ENST00000367674.1	-	5	1746	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	TNR_ENST00000263525.2_Missense_Mutation_p.W346C	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	346	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGCCCGTCCCATTCCAGCT	0.607000													21	179					1.9806e-07	2.94017e-07	1	1	0
CARD10	29775	broad.mit.edu	37	22	37902246	37902246	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:37902246G>A	ENST00000403299.1	-	8	1552	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	CARD10_ENST00000406271.3_Silent_p.L160L|CARD10_ENST00000251973.5_Silent_p.L446L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	446					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ACCTCCAGCAGAGCCTTGGTG	0.662000													8	15					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654715	247654715	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247654715G>T	ENST00000522351.1	+	0	346							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACCTACCACGGCTGTGTGGC	0.562000													6	96					0.00116845	0.00133498	1	1	0
EDIL3	10085	broad.mit.edu	37	5	83356239	83356239	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:83356239G>T	ENST00000296591.5	-	9	1435	c.1017C>A	c.(1015-1017)agC>agA	p.S339R	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.S329R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	339	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTCTGAAGATGCTGGAGGCAG	0.468000													6	53					3.59834e-05	4.51849e-05	1	1	0
CCNT2	905	broad.mit.edu	37	2	135705409	135705409	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:135705409A>G	ENST00000264157.5	+	7	673	c.643A>G	c.(643-645)Act>Gct	p.T215A	CCNT2_ENST00000295238.6_Missense_Mutation_p.T215A|CCNT2_ENST00000537343.1_Missense_Mutation_p.T40A	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	215					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CCCTGTATCAACTGATGGAAA	0.363000													11	85					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436311	248436311	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248436311T>C	ENST00000318021.2	-	1	827	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACAACCTTGTCATGGTTAGT	0.478000													43	249					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784221	9784221	+	Missense_Mutation	SNP	G	G	T	rs144132215		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:9784221G>T	ENST00000304374.2	+	1	964	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	190					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.G190W(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTCTTGGGGCGGGCTGGACCT	0.617000													10	54					3.86212e-05	4.82521e-05	1	1	0
MUC2	4583	broad.mit.edu	37	11	1087465	1087465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:1087465C>A	ENST00000441003.2	+	24	3243	c.3216C>A	c.(3214-3216)taC>taA	p.Y1072*	MUC2_ENST00000359061.5_Nonsense_Mutation_p.Y1072*	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1072						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCCCTTCTACGAGGCCTGTG	0.647000													4	25					2.56e-06	3.47663e-06	1	1	0
IKBIP	121457	broad.mit.edu	37	12	99008049	99008049	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:99008049G>T	ENST00000342502.2	-	3	778	c.367C>A	c.(367-369)Cag>Aag	p.Q123K	IKBIP_ENST00000420861.1_Missense_Mutation_p.Q17K|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	123					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATTTCTTCCTGTAGACGCTTT	0.323000													14	92					3.27435e-08	5.04244e-08	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40400678	40400678	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:40400678G>T	ENST00000338305.6	-	2	717	c.175C>A	c.(175-177)Ctg>Atg	p.L59M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	59						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGCCGCCCAGGCGCAGCTCC	0.602000													6	57					0.0477658	0.0500612	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228881203	228881203	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:228881203G>T	ENST00000392056.3	-	7	4413	c.4367C>A	c.(4366-4368)gCa>gAa	p.A1456E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1456E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1456						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)		ATGCCCTTCTGCTTCCTCTAG	0.498000													16	119					2.23348e-06	3.04435e-06	1	1	0
MAEL	84944	broad.mit.edu	37	1	166990920	166990920	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:166990920G>T	ENST00000367872.4	+	12	1377	c.1133G>T	c.(1132-1134)aGg>aTg	p.R378M	MAEL_ENST00000367870.2_Missense_Mutation_p.R347M|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	378					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TACCCATCTAGGGCAAAAATT	0.378000													22	62					9.95505e-16	1.91235e-15	1	1	0
INSRR	3645	broad.mit.edu	37	1	156823913	156823913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:156823913C>A	ENST00000368195.3	-	2	664	c.268G>T	c.(268-270)Gga>Tga	p.G90*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	90					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTCCAGTCCGTAGACACGG	0.617000													8	52					5.18039e-06	6.86552e-06	1	1	0
SPATA5L1	79029	broad.mit.edu	37	15	45695586	45695586	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:45695586G>T	ENST00000305560.6	+	1	1058	c.959G>T	c.(958-960)cGc>cTc	p.R320L	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R320L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	320						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCCGAGAGCCGCGTAGTGGCC	0.706000													3	37					0.115264	0.119286	1	1	0
HOXA1	3198	broad.mit.edu	37	7	27134297	27134297	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:27134297G>C	ENST00000343060.4	-	2	831	c.770C>G	c.(769-771)gCc>gGc	p.A257G	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	257						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACCCTGCGGGCGCGCGTCAG	0.567000													10	94					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406177	55406177	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:55406177G>T	ENST00000314612.2	+	1	344	c.344G>T	c.(343-345)gGg>gTg	p.G115V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATTCTCACAGGGATGGCCTAT	0.408000													18	48					3.32936e-07	4.81232e-07	1	1	0
PCDHAC1	56135	broad.mit.edu	37	5	140308176	140308176	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140308176G>T	ENST00000253807.2	+	1	1699	c.1699G>T	c.(1699-1701)Gtg>Ttg	p.V567L	PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V567L|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGTCCCAGTGGAAATTGT	0.473000													20	147					3.51602e-12	6.30502e-12	1	1	0
SYCE1	93426	broad.mit.edu	37	10	135369108	135369108	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:135369108G>T	ENST00000368517.3	-	11	853	c.715C>A	c.(715-717)Cgg>Agg	p.R239R	SYCE1_ENST00000343131.5_Silent_p.R275R|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.R239R	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	275					cell division	central element		p.R275R(1)|p.R239R(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACCTctgccgcttctgctgc	0.587000													4	13					0.00909568	0.00987474	1	1	0
C4BPB	725	broad.mit.edu	37	1	207263823	207263823	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:207263823C>A	ENST00000243611.5	+	2	523	c.229C>A	c.(229-231)Cgc>Agc	p.R77S	C4BPB_ENST00000451804.2_Missense_Mutation_p.R67S|C4BPB_ENST00000367078.3_Missense_Mutation_p.R77S|C4BPB_ENST00000367076.3_Missense_Mutation_p.R76S|C4BPB_ENST00000391923.1_Missense_Mutation_p.R77S	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	77	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TACTGAGTGCCGCTGTAAGTT	0.418000													17	73					1.33834e-09	2.19068e-09	1	1	0
SLC35F1	222553	broad.mit.edu	37	6	118596723	118596723	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:118596723G>T	ENST00000360388.4	+	5	940	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	247					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTGAGCCGAGTGGAATTCCT	0.418000													9	61					1.76689e-08	2.75531e-08	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112226	248112226	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248112226G>T	ENST00000357191.3	+	1	67	c.67G>T	c.(67-69)Gac>Tac	p.D23Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATCAAGAATTGACCTTTTCTT	0.398000													81	204					1.58458e-29	3.26834e-29	1	1	0
SPG20	23111	broad.mit.edu	37	13	36903531	36903531	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:36903531C>A	ENST00000451493.1	-	4	1349	c.1132G>T	c.(1132-1134)Gat>Tat	p.D378Y	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.D378Y|SPG20_ENST00000355182.4_Missense_Mutation_p.D378Y|SPG20_ENST00000494062.2_Missense_Mutation_p.D378Y	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	378					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGACGTACATCCTTATTGCCT	0.388000													34	181					1.22384e-17	2.40072e-17	1	1	0
USH2A	7399	broad.mit.edu	37	1	216371684	216371684	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:216371684A>G	ENST00000366943.2	-	18	4440	c.4054T>C	c.(4054-4056)Tgg>Cgg	p.W1352R	USH2A_ENST00000307340.3_Missense_Mutation_p.W1352R|USH2A_ENST00000366942.3_Missense_Mutation_p.W1352R|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1352	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGAGACCCAGGCAGAAGAC	0.398000										HNSCC(13;0.011)			20	178					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45514706	45514706	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:45514706C>A	ENST00000371438.1	+	8	1588	c.1230C>A	c.(1228-1230)ctC>ctA	p.L410L	RUNX2_ENST00000371436.6_Silent_p.L388L|RUNX2_ENST00000465038.2_Silent_p.L410L|RUNX2_ENST00000541979.1_Silent_p.L456L|RUNX2_ENST00000371432.3_Silent_p.L374L|RUNX2_ENST00000352853.5_Silent_p.L478L|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Silent_p.L396L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	410	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCATGTCCCTCGGTATGTCCG	0.582000													11	42					1.58986e-06	2.19736e-06	1	1	0
GABRA6	2559	broad.mit.edu	37	5	161128767	161128767	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:161128767C>T	ENST00000523217.1	+	9	1562	c.1320C>T	c.(1318-1320)agC>agT	p.S440S	GABRA6_ENST00000274545.5_Silent_p.S450S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	450					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGTCAGTAGCAGTGTTGAAT	0.378000										TCGA Ovarian(5;0.080)			16	91					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353096	121353096	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:121353096C>T	ENST00000314583.3	-	10	952	c.861G>A	c.(859-861)gaG>gaA	p.E287E	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.E250E	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	287					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GTACTGCTGGCTCTTCCATAG	0.592000													16	73					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484274	123484274	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:123484274C>G	ENST00000529750.1	+	15	2033	c.1706C>G	c.(1705-1707)gCc>gGc	p.A569G	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.A569G|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.A260G|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.A576G	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	569						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CGTCCCCATGCCCACCTGCGA	0.577000													5	33					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141762	133141762	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:133141762G>A	ENST00000388996.4	-	15	2786	c.2366C>T	c.(2365-2367)cCt>cTt	p.P789L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P777L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P669L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	789					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGGACAGAGGTGTGTCACT	0.607000													7	39					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783658	140783658	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140783658G>T	ENST00000573521.1	+	1	1139	c.1139G>T	c.(1138-1140)gGt>gTt	p.G380V	PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGAATGGTCAAGTTGTC	0.413000													7	58					0.00307968	0.00344432	1	1	0
TMTC3	160418	broad.mit.edu	37	12	88548084	88548084	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:88548084G>T	ENST00000266712.6	+	4	648	c.428G>T	c.(427-429)aGa>aTa	p.R143I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	143						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GTTGTTGGAAGAGCAGAACTT	0.303000													5	83					0.184627	0.187793	1	1	0
GRM4	2914	broad.mit.edu	37	6	34003718	34003718	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:34003718G>T	ENST00000374181.3	-	8	2338	c.2169C>A	c.(2167-2169)tcC>tcA	p.S723S	GRM4_ENST00000455714.2_Silent_p.S583S|GRM4_ENST00000538487.1_Silent_p.S723S|GRM4_ENST00000535756.1_Silent_p.S590S|GRM4_ENST00000544773.1_Silent_p.S554S|GRM4_ENST00000545715.1_Silent_p.S415S|GRM4_ENST00000374177.3_Silent_p.S607S	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	723					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCACCGAGTGGGAGGGGTCCA	0.637000													16	75					8.60227e-14	1.61279e-13	1	1	0
CPB1	1360	broad.mit.edu	37	3	148558672	148558672	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:148558672G>T	ENST00000491148.1	+	6	718	c.384G>T	c.(382-384)tgG>tgT	p.W128C	CPB1_ENST00000282957.4_Missense_Mutation_p.W128C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	128					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAGAGGCTTGGACTCAACAAG	0.428000													15	133					2.35188e-11	4.13251e-11	1	1	0
RET	5979	broad.mit.edu	37	10	43612112	43612112	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:43612112C>A	ENST00000355710.3	+	12	2449	c.2217C>A	c.(2215-2217)gtC>gtA	p.V739V	RET_ENST00000340058.5_Silent_p.V739V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	739	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAAAAGTGGTCAAGGCAACGG	0.527000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				24	170					9.39395e-14	1.75899e-13	1	1	0
SOX9	6662	broad.mit.edu	37	17	70119772	70119772	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:70119772C>A	ENST00000245479.2	+	3	1146	c.774C>A	c.(772-774)ccC>ccA	p.P258P		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	258					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGGGGCGCCCCTTGCCAGAGG	0.647000													56	148					3.88204e-17	7.59507e-17	1	1	0
PTPRB	5787	broad.mit.edu	37	12	71002892	71002892	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:71002892C>A	ENST00000334414.6	-	4	980	c.936G>T	c.(934-936)agG>agT	p.R312S	PTPRB_ENST00000261266.5_Missense_Mutation_p.R94S|PTPRB_ENST00000550857.1_Missense_Mutation_p.R94S|PTPRB_ENST00000551525.1_Missense_Mutation_p.R311S|PTPRB_ENST00000550358.1_Missense_Mutation_p.R312S|PTPRB_ENST00000538708.1_Missense_Mutation_p.R94S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.R94S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	94	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGAAATAATCCTGAAGTTAT	0.498000													7	115					0.248553	0.251606	1	1	0
EXOC3L4	91828	broad.mit.edu	37	14	103570687	103570687	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:103570687G>T	ENST00000380069.3	+	4	1321	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	415										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						AGGTGCTGCAGGGCCTCTACC	0.667000													3	7					0.004672	0.00515519	1	1	0
MTRR	4552	broad.mit.edu	37	5	7900080	7900080	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:7900080G>T	ENST00000264668.2	+	15	2117	c.2087G>T	c.(2086-2088)aGc>aTc	p.S696I	MTRR_ENST00000440940.2_Missense_Mutation_p.S669I	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	696					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAAATAATAAGCAAAGAGGTT	0.353000													15	132					4.93089e-13	9.11784e-13	1	1	0
TMEM5	10329	broad.mit.edu	37	12	64173835	64173835	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:64173835G>C	ENST00000261234.6	+	1	253	c.95G>C	c.(94-96)cGc>cCc	p.R32P	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	32						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTcgggcgccgccgccaggcg	0.711000													4	10					0	0	1	0	0
LCE2A	353139	broad.mit.edu	37	1	152671546	152671546	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152671546G>T	ENST00000368779.1	+	2	220	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	57	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCAGCTCTGGGGGCTGCTG	0.682000													36	116					9.88483e-10	1.63607e-09	1	1	0
THTPA	79178	broad.mit.edu	37	14	24026169	24026169	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:24026169G>T	ENST00000288014.6	+	1	939	c.203G>T	c.(202-204)gGa>gTa	p.G68V	THTPA_ENST00000554789.1_Missense_Mutation_p.G68V|THTPA_ENST00000556015.1_Missense_Mutation_p.G68V|THTPA_ENST00000554970.1_Missense_Mutation_p.G68V|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.G68V|RP11-66N24.4_ENST00000556354.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	68					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	AAATGTCCTGGAGCAGCAGGT	0.572000													10	43					2.17888e-05	2.77601e-05	1	1	0
BAI3	577	broad.mit.edu	37	6	69703720	69703720	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:69703720A>T	ENST00000370598.1	+	11	2616	c.1795A>T	c.(1795-1797)Acc>Tcc	p.T599S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	599					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTCCCAGGTGACCAAGACACT	0.433000													21	217					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218677119	218677119	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:218677119C>A	ENST00000171887.4	-	28	5144	c.4692G>T	c.(4690-4692)ctG>ctT	p.L1564L	TNS1_ENST00000419504.1_Silent_p.L1550L|TNS1_ENST00000430930.1_Silent_p.L1543L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1564	SH2.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.L1564L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCTTGCAAGGCAGGGCCAATG	0.577000													5	27					5.9392e-07	8.50177e-07	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554388	140554388	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140554388C>A	ENST00000231137.3	+	1	2146	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		658	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGCCACGCTGCACGTGCT	0.711000													13	162					6.31663e-08	9.6374e-08	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141143547	141143547	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:141143547C>A	ENST00000389484.3	-	67	11417	c.10446G>T	c.(10444-10446)caG>caT	p.Q3482H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3482	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTTTTACACTGGAATTCAT	0.403000										TSP Lung(27;0.18)			17	140					6.94344e-10	1.15309e-09	1	1	0
UNC79	57578	broad.mit.edu	37	14	94067037	94067037	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:94067037C>A	ENST00000553484.1	+	25	3649	c.3495C>A	c.(3493-3495)ttC>ttA	p.F1165L	UNC79_ENST00000256339.4_Missense_Mutation_p.F988L|UNC79_ENST00000393151.2_Missense_Mutation_p.F1165L|UNC79_ENST00000555664.1_Missense_Mutation_p.F1165L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1165						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGGGAGTTCTTTGTCAATA	0.388000													7	38					5.18039e-06	6.86552e-06	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49438257	49438257	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:49438257C>A	ENST00000301067.7	-	20	5011	c.5012G>T	c.(5011-5013)aGc>aTc	p.S1671I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACATCAGGGCTGACGGGGCC	0.542000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	77					0.000422831	0.000499251	1	1	0
RASSF2	9770	broad.mit.edu	37	20	4764982	4764982	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:4764982G>T	ENST00000379400.3	-	12	1113	c.918C>A	c.(916-918)acC>acA	p.T306T	RASSF2_ENST00000379376.2_Silent_p.T306T|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	306	SARAH.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCCGGAGCACGGTGTACCTGG	0.597000													7	37					2.0095e-06	2.75169e-06	1	1	0
LRRC8C	84230	broad.mit.edu	37	1	90180148	90180148	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:90180148G>T	ENST00000370454.4	+	3	2274	c.2019G>T	c.(2017-2019)gaG>gaT	p.E673D	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	673						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATAAAATAGAGGTGCTGCCTT	0.438000													8	67					0.00307968	0.00344432	1	1	0
CPA2	1358	broad.mit.edu	37	7	129919446	129919446	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:129919446C>A	ENST00000222481.4	+	9	986	c.931C>A	c.(931-933)Ctg>Atg	p.L311M		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	311					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CTATTCCCAGCTGCTGATGTT	0.433000													12	81					2.27111e-07	3.32483e-07	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45453956	45453956	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:45453956C>A	ENST00000321429.4	+	31	4284	c.3877C>A	c.(3877-3879)Cag>Aag	p.Q1293K	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q939K|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1293K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1293	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGCGGTTCCAGCGGCCCCA	0.642000													9	49					5.4927e-09	8.74e-09	1	1	0
PIGO	84720	broad.mit.edu	37	9	35093138	35093138	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:35093138T>C	ENST00000378617.3	-	6	1402	c.1008A>G	c.(1006-1008)ccA>ccG	p.P336P	PIGO_ENST00000298004.5_Silent_p.P336P|PIGO_ENST00000361778.2_Silent_p.P336P|PIGO_ENST00000341666.3_Silent_p.P336P	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	336					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TATTCCCAAATGGGATGGGCA	0.557000													11	32					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712169	140712169	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140712169C>A	ENST00000517417.1	+	1	1918	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q640K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTCAAGCAGAGTCTCGT	0.706000													18	85					3.32936e-07	4.81232e-07	1	1	0
COQ9	57017	broad.mit.edu	37	16	57485061	57485061	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:57485061G>T	ENST00000262507.6	+	2	252	c.183G>T	c.(181-183)caG>caT	p.Q61H	COQ9_ENST00000567933.1_Missense_Mutation_p.Q61H|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Missense_Mutation_p.Q61H	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	61					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TTTCTCAGCAGCATTCTGAGA	0.542000													7	61					5.18039e-06	6.86552e-06	1	1	0
AOX1	316	broad.mit.edu	37	2	201485848	201485848	+	Missense_Mutation	SNP	T	T	A	rs146219485		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:201485848T>A	ENST00000374700.2	+	18	2121	c.1880T>A	c.(1879-1881)aTt>aAt	p.I627N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	627				I -> N (in Ref. 2; AAB83966).	inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTAGGTCTATTGATCTGTCA	0.443000													24	126					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34824629	34824629	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:34824629G>A	ENST00000299505.6	+	8	2157	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	428										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ACACAGCACAGATTGAGAATA	0.388000													21	61					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14787090	14787090	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:14787090G>T	ENST00000358984.4	+	15	1905	c.1725G>T	c.(1723-1725)tgG>tgT	p.W575C	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.W575C	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	575										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAATTCTTGGGATTCTGAGG	0.318000													4	47					0.00909568	0.00987474	1	1	0
STRIP1	85369	broad.mit.edu	37	1	110586445	110586445	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:110586445G>A	ENST00000369795.3	+	10	1275	c.1253G>A	c.(1252-1254)tGc>tAc	p.C418Y	STRIP1_ENST00000369796.1_Missense_Mutation_p.C323Y	NM_033088.2	NP_149079.2			striatin interacting protein 1																		AGGCTGACTTGCCCCAAAGGG	0.597000													8	56					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215847765	215847765	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:215847765A>G	ENST00000366943.2	-	63	13874	c.13488T>C	c.(13486-13488)gaT>gaC	p.D4496D	USH2A_ENST00000307340.3_Silent_p.D4496D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4496	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGAGTAAAATCACGATAGC	0.473000										HNSCC(13;0.011)			39	246					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566103	18566103	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:18566103T>C	ENST00000545289.1	-	5	966	c.716A>G	c.(715-717)aAa>aGa	p.K239R		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTTTTTCTCTTTATAAGTTCT	0.363000													8	44					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89038457	89038457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:89038457G>T	ENST00000251038.5	+	5	544	c.319G>T	c.(319-321)Gag>Tag	p.E107*	ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.E107*|ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.E73*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.E73*|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.E107*|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.E107*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.E107*	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	107						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCGGGGAGATGAGAGGAGGCA	0.443000													8	69					5.18039e-06	6.86552e-06	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802200	185802200	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:185802200T>A	ENST00000302277.6	+	4	2671	c.2077T>A	c.(2077-2079)Tgt>Agt	p.C693S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	693						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAACCACTGTAAAAAGAA	0.303000													10	74					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458680	25458680	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:25458680C>A	ENST00000424208.1	+	0	2637				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TTTCCCAGCCCCTGGTGCACT	0.592000													8	29					0.00307968	0.00344432	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685706	248685706	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248685706G>T	ENST00000343414.4	+	1	791	c.759G>T	c.(757-759)ggG>ggT	p.G253G		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTCTATGGGACCATCATAT	0.443000													14	127					9.31168e-06	1.22314e-05	1	1	0
ZNF609	23060	broad.mit.edu	37	15	64966341	64966341	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:64966341G>T	ENST00000326648.3	+	4	1416	c.1288G>T	c.(1288-1290)Gtc>Ttc	p.V430F	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	430						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTGAGGATGTCAAGGCCAG	0.547000													14	105					2.61681e-11	4.57095e-11	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52374657	52374657	+	Missense_Mutation	SNP	G	G	A	rs143880458		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:52374657G>A	ENST00000296585.5	+	24	3024	c.2881G>A	c.(2881-2883)Gtg>Atg	p.V961M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	961					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCCTTCAATCGTGCACAGTTT	0.368000													4	42					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005457	102005457	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:102005457A>C	ENST00000372735.1	+	4	2119	c.1534A>C	c.(1534-1536)Aac>Cac	p.N512H	BHLHB9_ENST00000448867.1_Missense_Mutation_p.N512H|BHLHB9_ENST00000447531.1_Missense_Mutation_p.N512H|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N512H|BHLHB9_ENST00000457056.1_Missense_Mutation_p.N512H			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	512						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATATTTATTAACATAAAGGA	0.358000													24	104					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356582	37356582	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:37356582C>A	ENST00000217420.1	+	2	1141	c.878C>A	c.(877-879)gCc>gAc	p.A293D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	293					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCGACTGGGCCTGGGAGAAG	0.547000													8	51					0.000157383	0.000189601	1	1	0
ANGPT2	285	broad.mit.edu	37	8	6378889	6378889	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:6378889G>C	ENST00000325203.5	-	4	1083	c.609C>G	c.(607-609)atC>atG	p.I203M	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Missense_Mutation_p.I203M|ANGPT2_ENST00000338312.6_Missense_Mutation_p.I151M|ANGPT2_ENST00000415216.1_Missense_Mutation_p.I203M			O15123	ANGP2_HUMAN	angiopoietin 2	203					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTAGTTGGATGATGTGCTTGT	0.323000													4	51					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70531930	70531930	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:70531930G>C	ENST00000323786.5	-	10	1245	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	404					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GGCAGTTATTGAGGAGTTTGT	0.418000													14	100					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87743097	87743097	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:87743097C>A	ENST00000270583.5	-	10	1279	c.1221G>T	c.(1219-1221)tcG>tcT	p.S407S	KLHDC4_ENST00000353170.5_Silent_p.S350S|KLHDC4_ENST00000347925.5_Silent_p.S376S|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	407										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCTGCCCCGCCGAGCCTGGCG	0.697000													4	33					0.184627	0.187793	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50952058	50952058	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:50952058C>A	ENST00000374103.4	-	14	1928	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	OGDHL_ENST00000432695.1_Missense_Mutation_p.D406Y|OGDHL_ENST00000419399.1_Missense_Mutation_p.D558Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	615					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATCTTAAAGTCCTCCAGGGGC	0.617000													3	20					0.150653	0.154188	1	1	0
TENM4	26011	broad.mit.edu	37	11	78380493	78380493	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:78380493G>C	ENST00000278550.7	-	32	7359	c.6897C>G	c.(6895-6897)cgC>cgG	p.R2299R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGCTGGACACGCGCCGCCCCA	0.592000													17	88					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302574	163302574	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:163302574G>T	ENST00000332142.5	-	7	1607	c.1508C>A	c.(1507-1509)gCa>gAa	p.A503E	KCNH7_ENST00000328032.4_Missense_Mutation_p.A496E	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	503					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGGAATTGCTGCAACCATGTC	0.358000													10	53					7.48243e-07	1.05882e-06	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61303187	61303187	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:61303187C>T	ENST00000217159.1	+	12	2316	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.P704L	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	704					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ACTTGTCTGCCCAGCCAGTCC	0.627000													20	105					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99170233	99170233	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:99170233G>T	ENST00000401707.2	+	16	2890	c.2809G>T	c.(2809-2811)Gtg>Ttg	p.V937L	POP1_ENST00000349693.3_Missense_Mutation_p.V937L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	937					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAAGAGCCCGTGGCTGGGCA	0.582000													24	142					2.21704e-12	4.02924e-12	1	1	0
MINA	84864	broad.mit.edu	37	3	97664120	97664120	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:97664120T>A	ENST00000333396.6	-	10	1888	c.1306A>T	c.(1306-1308)Att>Ttt	p.I436F	MINA_ENST00000360258.4_Missense_Mutation_p.I435F|MINA_ENST00000394198.2_Missense_Mutation_p.I436F	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	436					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTGACAGAAATAGCTGGACTA	0.373000													21	107					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944479	40944479	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:40944479C>A	ENST00000373198.3	-	12	2258	c.2023G>T	c.(2023-2025)Gtc>Ttc	p.V675F	PTPRT_ENST00000373201.1_Missense_Mutation_p.V675F|PTPRT_ENST00000373193.3_Missense_Mutation_p.V675F|PTPRT_ENST00000356100.2_Missense_Mutation_p.V675F|PTPRT_ENST00000373187.1_Missense_Mutation_p.V675F|PTPRT_ENST00000373184.1_Missense_Mutation_p.V675F|PTPRT_ENST00000373190.1_Missense_Mutation_p.V675F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	675	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCTGGGTGACAGGCAGGTTG	0.507000													21	114					4.35082e-09	7.00571e-09	1	1	0
DGKI	9162	broad.mit.edu	37	7	137237295	137237295	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:137237295C>G	ENST00000453654.1	-	20	1606	c.1067G>C	c.(1066-1068)gGc>gCc	p.G356A	DGKI_ENST00000446122.1_Missense_Mutation_p.G656A|DGKI_ENST00000288490.5_Missense_Mutation_p.G656A|DGKI_ENST00000424189.2_Missense_Mutation_p.G656A			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	656					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCTCCATGGCCCCCAACTTG	0.522000													13	137					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771913	143771913	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:143771913G>A	ENST00000408898.2	+	1	639	c.601G>A	c.(601-603)Ggg>Agg	p.G201R		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGTTTTGGCAGGGGCAGTGTC	0.448000													22	166					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516075	140516075	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140516075C>A	ENST00000231134.5	+	1	1276	c.1059C>A	c.(1057-1059)agC>agA	p.S353R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		353	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTCTCCAGCCCTACCCCAG	0.522000													20	133					4.35082e-09	7.00571e-09	1	1	0
NEUROD1	4760	broad.mit.edu	37	2	182542871	182542871	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:182542871G>A	ENST00000295108.3	-	2	1174	c.717C>T	c.(715-717)gtC>gtT	p.V239V	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	239					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TAACGTGGAAGACATGGGAGC	0.622000													17	97					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001045	142001045	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142001045C>A	ENST00000455382.2	+	0	211																											GTCCCCATCTCTAATCACTTA	0.428000													7	25					0.248553	0.251606	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76486533	76486533	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:76486533T>A	ENST00000307431.8	+	9	1582	c.1197T>A	c.(1195-1197)acT>acA	p.T399T	CNTNAP4_ENST00000377504.4_Silent_p.T351T|CNTNAP4_ENST00000476707.1_Silent_p.T403T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.T327T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	400	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTTCGAACTTGGAATAAGG	0.463000													13	80					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125474073	125474073	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:125474073G>C	ENST00000392708.4	+	6	598	c.439G>C	c.(439-441)Gct>Cct	p.A147P	STT3A_ENST00000531491.1_Missense_Mutation_p.A55P|STT3A_ENST00000529196.1_Missense_Mutation_p.A147P	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	147					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGGGCTTCTTGCTGCTGCCAT	0.423000													15	61					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125330419	125330419	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:125330419G>A	ENST00000278919.3	-	5	876	c.642C>T	c.(640-642)acC>acT	p.T214T	FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	214					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TGTTGTTGAAGGTCTGTGTCA	0.592000													17	63					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058208	43058208	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:43058208C>A	ENST00000316099.3	+	10	1417	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	HNF4A_ENST00000457232.1_Missense_Mutation_p.S411Y|HNF4A_ENST00000415691.1_Missense_Mutation_p.S433Y	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	443					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCTCAGGGTCTGAGCCCTAT	0.602000													16	174					2.23348e-06	3.04435e-06	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343347	248343347	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248343347C>A	ENST00000359682.2	+	1	60	c.60C>A	c.(58-60)caC>caA	p.H20Q		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTCAATCACAGCCCACCAC	0.468000													36	329					3.62531e-18	7.18761e-18	1	1	0
FRMPD2	143162	broad.mit.edu	37	10	49376706	49376706	+	Missense_Mutation	SNP	G	G	T	rs150374667	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:49376706G>T	ENST00000374201.3	-	27	3771	c.3469C>A	c.(3469-3471)Cag>Aag	p.Q1157K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q1132K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q1125K|FRMPD2_ENST00000474573.1_Missense_Mutation_p.Q109K|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1157	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTGACTTCCTGTGGGGCCCCT	0.562000													15	100					6.49762e-13	1.19257e-12	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61011294	61011294	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:61011294T>C	ENST00000435852.2	-	13	1722	c.1675A>G	c.(1675-1677)Aga>Gga	p.R559G	FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000442566.3_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCAATTCTCTAGGAAGTATT	0.363000													23	100					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112460954	112460954	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:112460954C>A	ENST00000230538.7	-	23	3507	c.3110_splice	c.e23+1	p.R1037_splice	LAMA4_ENST00000389463.4_Splice_Site_p.R1030_splice|LAMA4_ENST00000424408.2_Splice_Site_p.R1030_splice|LAMA4_ENST00000522006.1_Splice_Site_p.R1030_splice	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1037					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGTCTCTTACCGGGCACATGG	0.418000													18	107					3.51602e-12	6.30502e-12	1	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47570260	47570260	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:47570260G>T	ENST00000371917.4	+	6	771	c.771G>T	c.(769-771)agG>agT	p.R257S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	257					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AACATGCCAGGAGTGATTCTG	0.468000													13	48					1.05317e-09	1.73539e-09	1	1	0
PPP1R3B	79660	broad.mit.edu	37	8	8998907	8998907	+	Silent	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:8998907C>G	ENST00000310455.3	-	2	405	c.255G>C	c.(253-255)ccG>ccC	p.P85P	PPP1R3B_ENST00000519699.1_Silent_p.P85P	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	85					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GCATATCTAGCGGGTCATCGA	0.527000													23	103					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167419981	167419981	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:167419981C>A	ENST00000519204.1	+	4	735	c.617C>A	c.(616-618)aCa>aAa	p.T206K	TENM2_ENST00000518659.1_Missense_Mutation_p.T327K|TENM2_ENST00000520394.1_Missense_Mutation_p.T136K|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000403607.2_Missense_Mutation_p.T160K|TENM2_ENST00000545108.1_Missense_Mutation_p.T327K					teneurin transmembrane protein 2																		TCGGGGAGCACACCCTTGTTC	0.552000													12	84					7.03913e-09	1.11887e-08	1	1	0
INSR	3643	broad.mit.edu	37	19	7125355	7125355	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:7125355C>A	ENST00000341500.5	-	16	3200	c.3161G>T	c.(3160-3162)cGa>cTa	p.R1054L	INSR_ENST00000302850.5_Missense_Mutation_p.R1066L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1066	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATCCGCTCTCGGAGACTGGC	0.597000													13	61					2.27111e-07	3.32483e-07	1	1	0
OR11H6	122748	broad.mit.edu	37	14	20692355	20692355	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20692355G>T	ENST00000315519.2	+	1	565	c.487G>T	c.(487-489)Gtc>Ttc	p.V163F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATAATTCTGGTCTGTGTATG	0.463000													16	75					2.31682e-05	2.94417e-05	1	1	0
DPEP2	64174	broad.mit.edu	37	16	68026487	68026487	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:68026487C>A	ENST00000412757.2	-	4	981	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	DPEP2_ENST00000393847.1_Missense_Mutation_p.D106Y|DPEP2_ENST00000572888.1_Missense_Mutation_p.D106Y			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	106					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		AGGTTAACATCCTGTAGCCCT	0.587000													10	74					2.17888e-05	2.77601e-05	1	1	0
HOXB13	10481	broad.mit.edu	37	17	46804379	46804379	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:46804379C>A	ENST00000290295.7	-	2	1212	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	210					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						AAGGCGCAGGCGTCAGGAGGG	0.622000													6	67					0.00116845	0.00133498	1	1	0
PRDM14	63978	broad.mit.edu	37	8	70978683	70978683	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:70978683A>T	ENST00000276594.2	-	5	1171	c.970T>A	c.(970-972)Tgg>Agg	p.W324R		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	324	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TAGGACATCCAGTTCCCCGTA	0.413000													27	136					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416469	187416469	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:187416469C>A	ENST00000358241.1	-	2	923	c.495G>T	c.(493-495)tgG>tgT	p.W165C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	165					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CGCTGGGCTTCCAGTGAACGA	0.647000													7	38					1.06961e-07	1.61367e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141680609	141680609	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:141680609C>A	ENST00000389484.3	-	21	4215	c.3244G>T	c.(3244-3246)Ggt>Tgt	p.G1082C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1082	LDL-receptor class A 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCACTACCATCTTCACAG	0.433000										TSP Lung(27;0.18)			18	117					3.32936e-07	4.81232e-07	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25451254	25451254	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:25451254C>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GAGGAAGACCCCGTGGCTCTG	0.642000													6	29					0.00116845	0.00133498	1	1	0
INSRR	3645	broad.mit.edu	37	1	156821923	156821923	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:156821923C>T	ENST00000368195.3	-	3	1094	c.698G>A	c.(697-699)tGc>tAc	p.C233Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	233					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCCCCAGGCATTCGGTGTG	0.677000													7	40					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404500	20404500	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20404500C>A	ENST00000285600.4	+	1	734	c.675C>A	c.(673-675)gtC>gtA	p.V225V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGATCGGTGTCCGATGCAGGT	0.418000													5	101					0.184627	0.187793	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247921269	247921269	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247921269C>A	ENST00000408896.2	-	1	713	c.440G>T	c.(439-441)gGa>gTa	p.G147V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCCACAGTCCAGCCACTAG	0.488000													24	47					6.32553e-13	1.16387e-12	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147914554	147914554	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:147914554G>T	ENST00000361727.3	+	19	3701	c.3185G>T	c.(3184-3186)tGc>tTc	p.C1062F	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.C121F	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1062	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGGCGCCCTGCATTCTCCTC	0.562000										HNSCC(39;0.1)			19	117					1.01871e-10	1.75058e-10	1	1	0
APBA2	321	broad.mit.edu	37	15	29406162	29406162	+	Missense_Mutation	SNP	C	C	A	rs148579265		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:29406162C>A	ENST00000558402.1	+	15	2720	c.2121C>A	c.(2119-2121)agC>agA	p.S707R	APBA2_ENST00000558330.1_Missense_Mutation_p.S695R|APBA2_ENST00000558259.1_Missense_Mutation_p.S707R|APBA2_ENST00000411764.1_Missense_Mutation_p.S695R|APBA2_ENST00000561069.1_Missense_Mutation_p.S707R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	707	PDZ 2.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACGGGCAGAGCGTGGTGGCCA	0.607000													9	58					0.0477658	0.0500612	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140812537	140812537	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140812537G>T	ENST00000252085.3	+	1	2353	c.2211G>T	c.(2209-2211)gcG>gcT	p.A737A	PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCCGGCGTCGCACTTTG	0.642000													20	114					2.4624e-09	3.98661e-09	1	1	0
CD19	930	broad.mit.edu	37	16	28948839	28948839	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:28948839C>A	ENST00000538922.1	+	10	1429	c.1367C>A	c.(1366-1368)tCc>tAc	p.S456Y	CD19_ENST00000567541.1_Missense_Mutation_p.S456Y|CD19_ENST00000324662.3_Missense_Mutation_p.S456Y	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	456					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GACTCCTTCTCCAACGGTAAC	0.572000													11	102					0.0135373	0.0146539	1	1	0
CCDC74B	91409	broad.mit.edu	37	2	130897863	130897863	+	Silent	SNP	C	C	A	rs145115485		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:130897863C>A	ENST00000392984.3	-	4	1814	c.1071G>T	c.(1069-1071)gcG>gcT	p.A357A	CCDC74B_ENST00000310463.6_Silent_p.A255A|CCDC74B_ENST00000409943.3_Silent_p.A189A			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	255										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGGGGTGTGCCGCCGCCCCCA	0.607000													20	131					1.28384e-07	1.91158e-07	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121357758	121357758	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:121357758G>T	ENST00000297848.3	+	45	5303	c.5033G>T	c.(5032-5034)gGc>gTc	p.G1678V	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1678V|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1583V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1678	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCACACCAGGCTTCCCCGGA	0.647000													9	57					3.86212e-05	4.82521e-05	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325169	79325169	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:79325169C>A	ENST00000428286.1	-	8	2144	c.944G>T	c.(943-945)aGt>aTt	p.S315I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S674I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	674					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCCTGTTCACTGGAACTCCA	0.493000													7	47					2.0095e-06	2.75169e-06	1	1	0
DIP2C	22982	broad.mit.edu	37	10	402210	402210	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:402210C>G	ENST00000540204.1	-	8	1327	c.1104G>C	c.(1102-1104)agG>agC	p.R368S	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000280886.6_Intron			Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	0						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAAACAATCCCTAGGTACAA	0.353000													4	10					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182706	57182706	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:57182706G>T	ENST00000504228.1	+	6	3143	c.3038G>T	c.(3037-3039)cGc>cTc	p.R1013L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1006L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1013L			Q6ZU35	K1211_HUMAN	KIAA1211	1013	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGTGACCGCCGGCCACCC	0.662000													3	18					0.004672	0.00515519	1	1	0
SLC12A2	6558	broad.mit.edu	37	5	127420129	127420129	+	Silent	SNP	G	G	T	rs150435168		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:127420129G>T	ENST00000262461.2	+	1	672	c.483G>T	c.(481-483)ggG>ggT	p.G161G	SLC12A2_ENST00000343225.4_Silent_p.G161G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	161					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGCTGCCGGGGTCGGAGTCG	0.697000													4	20					1.23904e-05	1.602e-05	1	1	0
CORIN	10699	broad.mit.edu	37	4	47645123	47645123	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:47645123C>A	ENST00000504584.1	-	14	2153	c.1997G>T	c.(1996-1998)tGc>tTc	p.C666F	CORIN_ENST00000502252.1_Intron|CORIN_ENST00000508498.1_Intron|CORIN_ENST00000273857.4_Intron|CORIN_ENST00000505909.1_Intron	NM_001278586.1	NP_001265515.1	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	0	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGCTGACAGGCATGAGAGAGT	0.438000													6	37					0.0215528	0.0228632	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76569546	76569546	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:76569546G>C	ENST00000307431.8	+	19	3242	c.2857G>C	c.(2857-2859)Gtg>Ctg	p.V953L	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V905L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V957L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V881L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	954	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GACTCCAGAAGTGCAGCCAGG	0.527000													4	47					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	29					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562313	142562313	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142562313G>T	ENST00000392957.2	+	7	1542	c.755G>T	c.(754-756)gGg>gTg	p.G252V	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G252V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGGCTGGGGGGGCCTCCCTG	0.677000													24	95					9.86323e-18	1.93994e-17	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245809467	245809467	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:245809467T>A	ENST00000366518.4	+	7	1104	c.1000T>A	c.(1000-1002)Tgt>Agt	p.C334S	KIF26B_ENST00000407071.2_Missense_Mutation_p.C715S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	715					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTCGGCAGCTGTGTGAAAGC	0.507000													10	44					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55659078	55659078	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:55659078C>A	ENST00000449290.2	+	7	1421	c.1329C>A	c.(1327-1329)ctC>ctA	p.L443L	TRIM51_ENST00000244891.3_Silent_p.L300L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	443	B30.2/SPRY.					intracellular	zinc ion binding										CACCTCCTCTCAGGCCTATCT	0.453000													21	207					8.34094e-07	1.17136e-06	1	1	0
PRSS35	167681	broad.mit.edu	37	6	84233788	84233788	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:84233788G>T	ENST00000536636.1	+	3	973	c.628G>T	c.(628-630)Gct>Tct	p.A210S	PRSS35_ENST00000369700.3_Missense_Mutation_p.A210S	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CAGGAGAGAAGCTAGTGGTGG	0.498000													12	59					6.40141e-05	7.91768e-05	1	1	0
USH2A	7399	broad.mit.edu	37	1	216062356	216062356	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:216062356C>A	ENST00000366943.2	-	41	8021	c.7635G>T	c.(7633-7635)aaG>aaT	p.K2545N	USH2A_ENST00000307340.3_Missense_Mutation_p.K2545N|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2545	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCATTCTTGACTTCACATCCA	0.418000										HNSCC(13;0.011)			30	103					1.7881e-09	2.92043e-09	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28276389	28276389	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:28276389C>A	ENST00000305242.5	-	3	400	c.308G>T	c.(307-309)aGc>aTc	p.S103I		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	103							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCCCAAAGCTCCTAATTTT	0.373000													16	81					1.99824e-07	2.95452e-07	1	1	0
FCN1	2219	broad.mit.edu	37	9	137801709	137801709	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:137801709A>T	ENST00000371806.3	-	9	1007	c.916T>A	c.(916-918)Tgg>Agg	p.W306R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	306	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCCGCACTCCAGTTGATACCA	0.557000													14	97					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255417	52255417	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:52255417C>T	ENST00000597542.1	-	9	3944	c.2987G>A	c.(2986-2988)aGc>aAc	p.S996N	TLR9_ENST00000494383.1_Silent_p.E1125E|TLR9_ENST00000360658.2_Missense_Mutation_p.S972N			Q9NR96	TLR9_HUMAN	toll-like receptor 9	972	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCCGTCAGGGCTCAGGATCAC	0.706000													4	41					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87017763	87017763	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:87017763A>T	ENST00000398399.2	-	3	1277	c.914T>A	c.(913-915)gTg>gAg	p.V305E	VGLL3_ENST00000383698.3_Missense_Mutation_p.V305E	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CACGCTGGGCACTATGTCTAC	0.428000													13	56					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688096	68688096	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:68688096C>A	ENST00000361320.4	+	2	2000	c.1422C>A	c.(1420-1422)ccC>ccA	p.P474P	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	474						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAATGACTCCCAGCACCCAGG	0.522000													10	74					0.00621372	0.00683601	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13605278	13605278	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:13605278C>A	ENST00000040738.5	-	10	3381	c.3246G>T	c.(3244-3246)atG>atT	p.M1082I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1082							DNA binding										CTCCTTTGGCCATTTCTTGTG	0.428000													9	72					0.000274275	0.00032488	1	1	0
LCP1	3936	broad.mit.edu	37	13	46726970	46726970	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:46726970C>A	ENST00000398576.2	-	10	1072	c.684G>T	c.(682-684)ctG>ctT	p.L228L	LCP1_ENST00000323076.2_Silent_p.L228L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	228	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGACTTGCCACAGAAGTCCCA	0.488000			T	BCL6	NHL								9	40					0.000274275	0.00032488	1	1	0
TG	7038	broad.mit.edu	37	8	133913770	133913770	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:133913770C>A	ENST00000220616.4	+	16	3646	c.3606C>A	c.(3604-3606)cgC>cgA	p.R1202R	TG_ENST00000377869.1_Silent_p.R1202R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1202	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGGACGCGCGTGACCGGGG	0.627000													7	52					0.00307968	0.00344432	1	1	0
GJB4	127534	broad.mit.edu	37	1	35227443	35227443	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:35227443C>T	ENST00000339480.1	+	2	958	c.588C>T	c.(586-588)atC>atT	p.I196I	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	196					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGCTGCCATCTGCATCCTGC	0.612000													7	31					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654856	247654856	+	RNA	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247654856C>G	ENST00000522351.1	+	0	487							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCTGCCTGCAGCTGGTGAC	0.607000													14	88					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124382516	124382516	+	Splice_Site	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:124382516T>A	ENST00000409039.3	+	54	9149		c.e54+2			NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTAATATAGGTAAGCCTTGGG	0.388000													6	24					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99956298	99956298	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:99956298C>A	ENST00000372981.1	-	4	540	c.354G>T	c.(352-354)tgG>tgT	p.W118C	SYTL4_ENST00000372989.1_Missense_Mutation_p.W118C|SYTL4_ENST00000455616.1_Missense_Mutation_p.W118C|SYTL4_ENST00000454200.2_Missense_Mutation_p.W118C|SYTL4_ENST00000276141.6_Missense_Mutation_p.W118C|SYTL4_ENST00000263033.5_Missense_Mutation_p.W118C			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	118	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTCATAAAACCAGTCCCCAG	0.428000													11	33					0.000978159	0.00112538	1	1	0
DPP10	57628	broad.mit.edu	37	2	116539928	116539928	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:116539928G>T	ENST00000410059.1	+	17	1964	c.1483_splice	c.e17-1	p.G495_splice	DPP10_ENST00000393147.2_Splice_Site_p.G499_splice|DPP10_ENST00000310323.8_Splice_Site_p.G488_splice|DPP10_ENST00000409163.1_Splice_Site_p.G445_splice	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	495					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TAAATTCCAGGTCCAAGGGTC	0.348000													11	48					0.000978159	0.00112538	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2811927	2811927	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:2811927A>T	ENST00000301740.8	+	11	1947	c.1398A>T	c.(1396-1398)cgA>cgT	p.R466R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	466	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACATGGCCGAGCAAAACGGG	0.562000													19	127					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169468076	169468076	+	Missense_Mutation	SNP	G	G	T	rs139600790		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:169468076G>T	ENST00000256935.8	+	37	3763	c.3683G>T	c.(3682-3684)cGc>cTc	p.R1228L	DOCK2_ENST00000540750.1_Missense_Mutation_p.R289L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R720L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1228	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAAACTCCGCGATCTTCAC	0.517000													7	59					3.09899e-07	4.50568e-07	1	1	0
ATXN2	6311	broad.mit.edu	37	12	111902513	111902513	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:111902513G>A	ENST00000377617.3	-	21	3484	c.3323C>T	c.(3322-3324)cCc>cTc	p.P1108L	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.P843L|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000389153.4_Missense_Mutation_p.P845L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1108					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTAATTTGGGACATGCTGA	0.318000													17	123					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30977163	30977163	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:30977163C>A	ENST00000383096.3	-	4	250	c.68G>T	c.(67-69)tGt>tTt	p.C23F	CCDC178_ENST00000402325.1_Missense_Mutation_p.C23F|CCDC178_ENST00000406524.2_Missense_Mutation_p.C23F|CCDC178_ENST00000579916.1_Missense_Mutation_p.C23F|CCDC178_ENST00000403303.1_Missense_Mutation_p.C23F|CCDC178_ENST00000583930.1_Missense_Mutation_p.C23F|CCDC178_ENST00000579947.1_Missense_Mutation_p.C23F|CCDC178_ENST00000300227.8_Missense_Mutation_p.C23F					coiled-coil domain containing 178																		TACTTCCTGACATGTTAAACC	0.333000													13	77					2.32078e-09	3.76969e-09	1	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68707029	68707029	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:68707029G>T	ENST00000255078.3	+	15	2923	c.2812G>T	c.(2812-2814)Gcc>Tcc	p.A938S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	938					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGGCTCGCGCCCATGCCCG	0.637000													8	48					0.0381472	0.0400654	1	1	0
ZNF219	51222	broad.mit.edu	37	14	21561118	21561118	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:21561118C>A	ENST00000360947.3	-	3	749	c.338G>T	c.(337-339)cGt>cTt	p.R113L	ZNF219_ENST00000451119.2_Missense_Mutation_p.R113L|ZNF219_ENST00000421093.2_Missense_Mutation_p.R113L	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	113					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGCAGGACTACGTGGGCGCTC	0.716000											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0.150653	0.154188	1	1	0
USH2A	7399	broad.mit.edu	37	1	216062173	216062173	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:216062173T>C	ENST00000366943.2	-	41	8204	c.7818A>G	c.(7816-7818)aaA>aaG	p.K2606K	USH2A_ENST00000307340.3_Silent_p.K2606K|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2606	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGAACATCCTTTTGAAGTGC	0.478000										HNSCC(13;0.011)			24	95					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34890690	34890690	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:34890690G>T	ENST00000415930.3	+	17	1744	c.1574_splice	c.e17+1	p.G525_splice	GPI_ENST00000586425.1_Intron|GPI_ENST00000356487.5_Splice_Site_p.G514_splice	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	514			I -> T (in HA-GPID).		angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GACCAGTGGGGGTGAGTTGCT	0.537000													13	38					1.05317e-09	1.73539e-09	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82450967	82450967	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:82450967G>A	ENST00000370728.1	+	23	4069	c.3424G>A	c.(3424-3426)Gat>Aat	p.D1142N	LPHN2_ENST00000394879.1_Missense_Mutation_p.D1144N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1157N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1157N|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1142N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D1129N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1157N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1129N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1067N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1144N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1142N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1157N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1129N			O95490	LPHN2_HUMAN	latrophilin 2	1142					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D1157Y(1)|p.D1129Y(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGTGGAATGATACTGTGAG	0.318000													18	67					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74304014	74304014	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:74304014A>T	ENST00000395792.2	+	3	361	c.261A>T	c.(259-261)ttA>ttT	p.L87F	AFP_ENST00000226359.2_Missense_Mutation_p.L87F	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	87	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			cagggtgtttagaaaaccagg	0.348000									Alpha-Fetoprotein, Hereditary Persistence of				16	28					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22422626	22422626	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:22422626T>A	ENST00000334304.5	-	12	1961	c.1692A>T	c.(1690-1692)gcA>gcT	p.A564A	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Silent_p.A338A|GPR125_ENST00000502482.1_Silent_p.A564A	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	564					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GATCAGAGGCTGCCACTTTCT	0.453000													26	237					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815552	152815552	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:152815552A>T	ENST00000370186.1	+	10	1915	c.1589A>T	c.(1588-1590)gAg>gTg	p.E530V	ATP2B3_ENST00000393842.1_Missense_Mutation_p.E530V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E530V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E544V|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E544V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E544V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	544					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AATAAGACGGAGTGCGCCCTG	0.617000													5	41					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81283137	81283137	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:81283137C>A	ENST00000552864.1	-	2	296	c.94G>T	c.(94-96)Gca>Tca	p.A32S		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	32	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AATTCAATTGCTCTTGCAACA	0.348000													6	20					8.12818e-05	9.91291e-05	1	1	0
ACSBG2	81616	broad.mit.edu	37	19	6183162	6183162	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:6183162C>A	ENST00000588304.1	+	10	1497	c.1051C>A	c.(1051-1053)Ctc>Atc	p.L351I	ACSBG2_ENST00000252669.5_Missense_Mutation_p.L401I|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.L214I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L401I|ACSBG2_ENST00000586696.1_Missense_Mutation_p.L401I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	401					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTGCGCCCCTCAACCAAGA	0.517000													19	86					3.51602e-12	6.30502e-12	1	1	0
FAT3	120114	broad.mit.edu	37	11	92623757	92623757	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:92623757G>T	ENST00000298047.6	+	27	13265	c.13248G>T	c.(13246-13248)caG>caT	p.Q4416H	FAT3_ENST00000525166.1_Missense_Mutation_p.Q4266H|FAT3_ENST00000533797.1_Missense_Mutation_p.Q719H|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.Q4384H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4416					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCACACCAGGGGAGCACAC	0.562000										TCGA Ovarian(4;0.039)			4	40					2.56e-06	3.47663e-06	1	1	0
TRIO	7204	broad.mit.edu	37	5	14291250	14291250	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:14291250G>T	ENST00000344204.4	+	5	990	c.966G>T	c.(964-966)cgG>cgT	p.R322R	TRIO_ENST00000509967.2_Silent_p.R273R|TRIO_ENST00000537187.1_Silent_p.R322R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	322					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTCGACACGGCAGCATCTGC	0.562000													13	64					1.05317e-09	1.73539e-09	1	1	0
EXOC3L1	283849	broad.mit.edu	37	16	67222801	67222801	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:67222801A>C	ENST00000314586.6	-	4	490	c.250T>G	c.(250-252)Tgg>Ggg	p.W84G	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	84	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCCAGCTGCCACACACCAGTC	0.642000													5	44					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64624663	64624663	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:64624663G>T	ENST00000371079.1	+	8	1549		c.e8-1		ROR1_ENST00000545203.1_Splice_Site|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1						transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCTGCACCCAGATTCAAAGGA	0.353000													12	78					0.00010058	0.000121664	1	1	0
LINC00482	284185	broad.mit.edu	37	17	79278868	79278868	+	RNA	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:79278868C>T	ENST00000332012.5	-	0	725					NR_038080.1																						TGTCACCAGGCACCATCTGTC	0.652000													3	12					0	0	1	0	0
SNCA	6622	broad.mit.edu	37	4	90743487	90743487	+	Silent	SNP	C	C	A	rs144758871	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:90743487C>A	ENST00000394989.2	-	3	436	c.174G>T	c.(172-174)acG>acT	p.T58T	SNCA_ENST00000505199.1_Silent_p.T58T|SNCA_ENST00000502987.1_Silent_p.T72T|SNCA_ENST00000508895.1_Silent_p.T72T|SNCA_ENST00000336904.3_Silent_p.T72T|SNCA_ENST00000345009.4_Silent_p.T72T|SNCA_ENST00000394986.1_Silent_p.T72T|SNCA_ENST00000420646.2_Silent_p.T72T|SNCA_ENST00000394991.3_Silent_p.T72T|SNCA_ENST00000506244.1_Silent_p.T72T			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	72	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	CTGTCACACCCGTCACCACTG	0.498000													8	51					1.12685e-05	1.46718e-05	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2717774	2717774	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:2717774A>G	ENST00000399655.1	+	27	3719	c.3454A>G	c.(3454-3456)Atc>Gtc	p.I1152V	CACNA1C_ENST00000399595.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.I1172V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I1152V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.I1172V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.I1177V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.I1152V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.I1152V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1172	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ctacatcatcatcatcgcctt	0.517000													6	22					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379422	127379422	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:127379422A>G	ENST00000342480.6	+	3	590	c.551A>G	c.(550-552)gAg>gGg	p.E184G		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	184	Glu-rich.				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						caagaggaggaggaagaggag	0.572000													10	90					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743497	81743497	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:81743497G>A	ENST00000555447.1	-	6	2570	c.2158C>T	c.(2158-2160)Ctc>Ttc	p.L720F	STON2_ENST00000267540.2_Missense_Mutation_p.L720F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	720	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACCTGAGTGAGGGGGTCACGA	0.557000													13	141					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273433	26273433	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:26273433G>A	ENST00000381655.2	+	25	2476	c.2334G>A	c.(2332-2334)cgG>cgA	p.R778R	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.R738R	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	738					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCGAAGTCCGGAGGAGTTTCC	0.547000													6	37					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114298197	114298197	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:114298197C>T	ENST00000408937.3	+	12	1792	c.1418C>T	c.(1417-1419)aCc>aTc	p.T473I	FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Missense_Mutation_p.T356I|FOXP2_ENST00000393494.2_Missense_Mutation_p.T448I|FOXP2_ENST00000350908.4_Missense_Mutation_p.T448I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T465I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.T427I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	448					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAACCCCTACCACACCAACG	0.547000													16	89					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81440790	81440790	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:81440790C>A	ENST00000286732.4	+	7	905	c.822C>A	c.(820-822)gcC>gcA	p.A274A		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	274										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CCAGGGATGCCTCGTCCTCCA	0.552000													22	104					7.41877e-09	1.17795e-08	1	1	0
TRBJ2-6	28623	broad.mit.edu	37	7	142494944	142494944	+	RNA	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142494944T>A	ENST00000390418.1	+	0	22																											ACGTCCTGACTTTCGGGGCCG	0.731000													6	30					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86200608	86200608	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:86200608G>A	ENST00000370571.2	-	59	5188	c.4822C>T	c.(4822-4824)Cat>Tat	p.H1608Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.H1587Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1608	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTCAGTAAATGAAGGAAGTTC	0.428000													14	65					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666833	150666833	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:150666833C>T	ENST00000335230.3	-	6	1093	c.682G>A	c.(682-684)Gct>Act	p.A228T	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A269T	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	228						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGATCAGAGCCATGCTCCCA	0.507000													12	84					0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150600004	150600004	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:150600004T>A	ENST00000271690.8	-	2	228	c.122A>T	c.(121-123)tAc>tTc	p.Y41F	ENSA_ENST00000369009.3_Missense_Mutation_p.Y41F|ENSA_ENST00000369014.5_Missense_Mutation_p.Y41F|ENSA_ENST00000361631.5_Missense_Mutation_p.Y37F|ENSA_ENST00000362052.7_Missense_Mutation_p.Y41F|ENSA_ENST00000356527.5_Missense_Mutation_p.Y41F|ENSA_ENST00000339643.5_Missense_Mutation_p.Y41F|ENSA_ENST00000361532.5_Missense_Mutation_p.Y37F|ENSA_ENST00000513281.1_Missense_Mutation_p.Y37F|ENSA_ENST00000369016.4_Missense_Mutation_p.Y41F|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000503241.1_Missense_Mutation_p.Y41F|ENSA_ENST00000503345.1_Missense_Mutation_p.Y41F	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	41					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			TAGGCTTGGGTATTTGGCCTT	0.468000													13	106					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582546	136582546	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:136582546C>A	ENST00000531224.1	-	12	2866	c.2614G>T	c.(2614-2616)Ggc>Tgc	p.G872C	BCLAF1_ENST00000031135.9_Missense_Mutation_p.G90C|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G821C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G870C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G823C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G699C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G821C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	872					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCCCTCTGCCACGTTGAAAA	0.423000													20	352					7.45023e-12	1.3232e-11	1	1	0
ZNF800	168850	broad.mit.edu	37	7	127014562	127014562	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:127014562T>A	ENST00000393313.1	-	5	1419	c.828A>T	c.(826-828)ggA>ggT	p.G276G	ZNF800_ENST00000265827.3_Silent_p.G276G|ZNF800_ENST00000393312.1_Silent_p.G276G			Q2TB10	ZN800_HUMAN	zinc finger protein 800	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TCTTACTGCGTCCTTTAGAGG	0.373000													12	119					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171395	39171395	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:39171395G>T	ENST00000297668.6	-	8	1377	c.1304C>A	c.(1303-1305)cCg>cAg	p.P435Q	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.P435Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.P435Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P435Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P347Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	435	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGACTGTCCCGGCTGGAAGAG	0.468000													22	133					3.10358e-05	3.93722e-05	1	1	0
SSPO	23145	broad.mit.edu	37	7	149517985	149517985	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:149517985G>T	ENST00000378016.2	+	0	12328							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGGATGGTGGCTGCGTGCC	0.657000													6	21					0.00116845	0.00133498	1	1	0
TRBV19	28568	broad.mit.edu	37	7	142326467	142326467	+	RNA	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142326467T>C	ENST00000390393.3	+	0	105																											ttccaGCCTCTGACAAACTCT	0.512000													4	11					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141151	143141151	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:143141151G>C	ENST00000332690.1	+	1	606	c.606G>C	c.(604-606)tgG>tgC	p.W202C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	202					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGATTACTTGGACAATGCCCA	0.428000													20	152					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170695	42170695	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:42170695C>A	ENST00000320955.6	-	17	3542	c.3315G>T	c.(3313-3315)caG>caT	p.Q1105H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1105					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCAGGAAGCTCTGCCGGGCCT	0.632000													3	24					0.00024832	0.000296266	1	1	0
FAT4	79633	broad.mit.edu	37	4	126389833	126389833	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:126389833G>C	ENST00000394329.3	+	11	12079	c.12066G>C	c.(12064-12066)cgG>cgC	p.R4022R	FAT4_ENST00000335110.5_Silent_p.R2285R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4022	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R4022R(1)|p.R3987R(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGGCGACCGGGCTGAGTTTT	0.408000													14	66					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48934359	48934359	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:48934359C>A	ENST00000356463.3	-	6	727	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	WDR45_ENST00000322995.8_Missense_Mutation_p.V96L|WDR45_ENST00000473974.1_Missense_Mutation_p.V96L|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376372.3_Missense_Mutation_p.V96L|WDR45_ENST00000485908.1_Missense_Mutation_p.V61L|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.V97L|WDR45_ENST00000396681.4_Missense_Mutation_p.V96L|WDR45_ENST00000553851.1_Intron	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	96					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AACTCCAGCACCAGCTTCTCC	0.627000													5	27					0.014758	0.0158251	1	1	0
PTPLAD2	401494	broad.mit.edu	37	9	21026606	21026606	+	Silent	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:21026606T>G	ENST00000495827.1	-	3	304	c.259A>C	c.(259-261)Agg>Cgg	p.R87R	PTPLAD2_ENST00000513293.2_Silent_p.R87R|PTPLAD2_ENST00000488436.1_5'UTR	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	87					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCAAAAACCTTGGGAGAAGA	0.358000													10	96					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049598	11049598	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:11049598C>A	ENST00000470054.1	-	0	510									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGTCGCACACTGCACAGTTT	0.373000													9	198					2.68362e-12	4.85342e-12	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168107822	168107822	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:168107822A>T	ENST00000409195.1	+	9	10009	c.9920A>T	c.(9919-9921)gAg>gTg	p.E3307V	XIRP2_ENST00000409273.1_Missense_Mutation_p.E3085V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3307V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3132					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						CGCCTGTCAGAGCACACACAG	0.443000													21	126					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173681	86173681	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:86173681C>A	ENST00000370574.3	-	1	420	c.287G>T	c.(286-288)tGg>tTg	p.W96L	ZNHIT6_ENST00000431532.2_Intron			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	96	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CTGTTCTACCCACTGGCCAGC	0.512000													13	81					0.00010058	0.000121664	1	1	0
C1orf210	149466	broad.mit.edu	37	1	43748659	43748659	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:43748659G>A	ENST00000523677.1	-	3	372	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	C1orf210_ENST00000423420.1_Missense_Mutation_p.L47F	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	47						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGCAATGAGGAGCGAGAGG	0.667000													8	29					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71016204	71016204	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:71016204G>A	ENST00000334414.6	-	3	718	c.674C>T	c.(673-675)tCg>tTg	p.S225L	PTPRB_ENST00000551525.1_Missense_Mutation_p.S224L|PTPRB_ENST00000550358.1_Missense_Mutation_p.S225L|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGAGTAGTCGACAAAACCCA	0.498000													9	76					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884694	36884694	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:36884694T>A	ENST00000392161.3	-	5	790	c.548A>T	c.(547-549)cAa>cTa	p.Q183L	ZFP82_ENST00000392171.1_Missense_Mutation_p.Q183L	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTAAGCTGTTGGCGCACTCT	0.428000													11	50					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645457	38645457	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:38645457C>A	ENST00000413689.1	-	12	1829	c.1636G>T	c.(1636-1638)Gat>Tat	p.D546Y	SCN5A_ENST00000414099.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.D546Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.D546Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.D546Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.D546Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.D546Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	546					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGTTTTCATCATCTGCAAAA	0.622000													4	35					0.184627	0.187793	1	1	0
IFFO1	25900	broad.mit.edu	37	12	6657972	6657972	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:6657972C>T	ENST00000436152.2	-	7	738	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	IFFO1_ENST00000336604.4_Missense_Mutation_p.R367Q|IFFO1_ENST00000465801.1_Missense_Mutation_p.R60Q|IFFO1_ENST00000356896.4_Missense_Mutation_p.R367Q|IFFO1_ENST00000396840.2_Missense_Mutation_p.R364Q			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	364						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCCGCTTCCGCCCCCCCAT	0.677000													5	15					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61566417	61566417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:61566417C>A	ENST00000577647.1	+	6	888	c.843C>A	c.(841-843)taC>taA	p.Y281*	ACE_ENST00000290863.6_Nonsense_Mutation_p.Y281*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Y855*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y281*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y855*|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Nonsense_Mutation_p.Y281*			P12821	ACE_HUMAN	angiotensin I converting enzyme	855	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGCATGCCTACGTGCGCCGGG	0.632000													15	45					1.15088e-07	1.71878e-07	1	1	0
GABRA6	2559	broad.mit.edu	37	5	161119046	161119046	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:161119046T>A	ENST00000523217.1	+	8	1138	c.896T>A	c.(895-897)gTt>gAt	p.V299D	GABRA6_ENST00000274545.5_Missense_Mutation_p.V309D	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	309					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCATAGCTGTTTGCTTTGCA	0.468000										TCGA Ovarian(5;0.080)			21	120					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579691	140579691	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140579691A>T	ENST00000354757.3	+	1	344	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		115	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCCCACGCAGTTTTTACAA	0.463000													30	199					0	0	1	0	0
STX7	8417	broad.mit.edu	37	6	132781941	132781941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:132781941C>A	ENST00000367941.2	-	10	855	c.742G>T	c.(742-744)Gga>Tga	p.G248*		NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	248					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATCGCAACTCCAATGACAAGG	0.373000													7	87					0.000157383	0.000189601	1	1	0
KIF14	9928	broad.mit.edu	37	1	200567484	200567484	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:200567484T>C	ENST00000367350.4	-	14	2868	c.2430A>G	c.(2428-2430)ccA>ccG	p.P810P		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	810					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAGATAGTTGTGGATCTTCAT	0.338000													9	90					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261646	33261646	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:33261646C>A	ENST00000334528.9	-	4	1586	c.1587G>T	c.(1585-1587)cgG>cgT	p.R529R	FMN1_ENST00000561249.1_Silent_p.R654R|FMN1_ENST00000559047.1_Silent_p.R752R	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	752	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CATGCTCGCCCCGGATATGAA	0.403000													24	110					1.22574e-08	1.93999e-08	1	1	0
OR10H4	126541	broad.mit.edu	37	19	16060028	16060028	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:16060028G>A	ENST00000322107.1	+	1	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CTCCGTCTCTGAGATTCTGTT	0.507000													80	301					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466615	179466615	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:179466615A>G	ENST00000589042.1	-	285	55520	c.55296T>C	c.(55294-55296)gaT>gaC	p.D18432D	TTN_ENST00000342175.6_Silent_p.D9559D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.D16791D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.D15864D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.D9492D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D9367D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16791							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ttaCCTGTGCATCTTCGGGTA	0.308000													11	55					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532543	1532543	+	Missense_Mutation	SNP	C	C	T	rs139039354	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:1532543C>T	ENST00000381623.3	-	2	1404	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.R72Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	72	Ig-like V-type.					extracellular region		p.R72Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GATTAATTTCCGGTTTGGCCC	0.463000													10	89					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148600343	148600343	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:148600343G>C	ENST00000296046.3	+	8	791	c.739G>C	c.(739-741)Ggc>Cgc	p.G247R	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	247					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAAATGCATCGGCACTGACCT	0.388000													8	44					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196715021	196715021	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:196715021G>A	ENST00000367429.4	+	21	3625	c.3385G>A	c.(3385-3387)Gct>Act	p.A1129T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1129	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTCAGTATATGCTCCAGCTTC	0.413000													24	179					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179580319	179580319	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:179580319C>G	ENST00000589042.1	-	89	26046	c.25822G>C	c.(25822-25824)Gaa>Caa	p.E8608Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8291Q|TTN_ENST00000342992.6_Missense_Mutation_p.E7364Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8291							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGCATTTCCAGCACAGCC	0.458000													11	46					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7018185	7018185	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:7018185A>G	ENST00000382040.3	+	1	390	c.254A>G	c.(253-255)tAc>tGc	p.Y85C		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	85					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CAGTGCAACTACAAATGCGGC	0.527000													8	84					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199434	4199434	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:4199434T>A	ENST00000296358.4	-	5	1151	c.1127A>T	c.(1126-1128)gAg>gTg	p.E376V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	376					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTGACTTCTCGTCTATCCT	0.572000													17	75					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159839521	159839521	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:159839521T>C	ENST00000297151.4	-	6	963	c.576A>G	c.(574-576)aaA>aaG	p.K192K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	192					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGTTCGTTTTGCCTTTa	0.269000													4	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478579	179478579	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:179478579A>G	ENST00000589042.1	-	263	49655	c.49431T>C	c.(49429-49431)gaT>gaC	p.D16477D	TTN_ENST00000342175.6_Silent_p.D7604D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.D14836D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.D13909D|TTN_ENST00000359218.5_Silent_p.D7537D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D7412D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14836	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGCCACCATCATCATCTG	0.453000													26	140					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6985289	6985289	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:6985289G>A	ENST00000389658.3	-	39	5700	c.5607C>T	c.(5605-5607)taC>taT	p.Y1869Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1869	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCAGCTCTGTAGACCAGGT	0.493000													24	170					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78071180	78071180	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:78071180G>T	ENST00000397545.4	+	19	3185	c.3158G>T	c.(3157-3159)cGg>cTg	p.R1053L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1053					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACCTCACCCGGCTTGGGGCC	0.577000													9	40					0.000442599	0.000519695	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30934792	30934792	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:30934792G>T	ENST00000355537.3	+	2	470	c.323G>T	c.(322-324)gGg>gTg	p.G108V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCCTCAACGGGCAGAACCTG	0.647000													3	29					0.115264	0.119286	1	1	0
IL22	50616	broad.mit.edu	37	12	68646305	68646305	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:68646305G>T	ENST00000538666.1	-	4	445	c.375C>A	c.(373-375)ctC>ctA	p.L125L	IL22_ENST00000328087.4_Silent_p.L125L			Q9GZX6	IL22_HUMAN	interleukin 22	125					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GCCTGTTGCTGAGCCTGGCCA	0.542000													9	65					1.12685e-05	1.46718e-05	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121309824	121309824	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:121309824C>A	ENST00000297848.3	+	35	4581	c.4311C>A	c.(4309-4311)ggC>ggA	p.G1437G	COL14A1_ENST00000309791.4_Silent_p.G1437G|COL14A1_ENST00000247781.3_Silent_p.G1342G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1437	Nonhelical region (NC4).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.G1437G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTTCCAGGCCTGGTAAGAA	0.323000													4	37					0.0215528	0.0228632	1	1	0
CCT4	10575	broad.mit.edu	37	2	62107478	62107478	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:62107478A>C	ENST00000394440.3	-	4	618	c.322T>G	c.(322-324)Tca>Gca	p.S108A	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.S52A|CCT4_ENST00000544079.1_Missense_Mutation_p.S78A	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	108					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATGACTACTGATGTGGTGCCA	0.413000													9	163					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44485371	44485371	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:44485371G>A	ENST00000398165.3	-	8	937	c.678C>T	c.(676-678)gcC>gcT	p.A226A	CBS_ENST00000359624.3_Silent_p.A226A|CBS_ENST00000398158.1_Silent_p.A226A|CBS_ENST00000544202.1_Silent_p.A138A|CBS_ENST00000352178.5_Silent_p.A226A|CBS_ENST00000398168.1_Silent_p.A226A	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	226			A -> T (in CBSD; presents 20% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GGGGGTTGCTGGCGTTGCGGT	0.587000													5	30					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111352081	111352081	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:111352081C>A	ENST00000228841.8	-	4	230	c.183G>T	c.(181-183)gtG>gtT	p.V61V	MYL2_ENST00000548438.1_Silent_p.V47V	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	61					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CTTCATTTTTCACGTTCACTC	0.473000													7	42					0.248553	0.251606	1	1	0
CHST10	9486	broad.mit.edu	37	2	101010155	101010155	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:101010155C>A	ENST00000264249.3	-	7	1008	c.623G>T	c.(622-624)cGg>cTg	p.R208L	CHST10_ENST00000542617.1_Missense_Mutation_p.R256L|CHST10_ENST00000409701.1_Missense_Mutation_p.R208L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	208					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGCTCAAACCGGGGATTGTG	0.408000													19	120					5.03518e-11	8.76429e-11	1	1	0
TBCE	6905	broad.mit.edu	37	1	235582795	235582795	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:235582795A>T	ENST00000543662.1	+	5	485	c.379A>T	c.(379-381)Agc>Tgc	p.S127C	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.S127C|TBCE_ENST00000406207.1_Missense_Mutation_p.S127C			Q15813	TBCE_HUMAN	tubulin folding cofactor E	127					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CAGTCAGCTGAGCAAGTTGCA	0.413000													10	105					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990559	137990559	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:137990559C>A	ENST00000409968.1	+	9	2184	c.2006C>A	c.(2005-2007)cCt>cAt	p.P669H	THSD7B_ENST00000413152.2_Missense_Mutation_p.P638H|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P669H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGACATCGCCTTGGGGCCCT	0.517000													12	53					0.00010058	0.000121664	1	1	0
BPTF	2186	broad.mit.edu	37	17	65850086	65850086	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:65850086G>A	ENST00000321892.4	+	2	705	c.644G>A	c.(643-645)cGt>cAt	p.R215H	BPTF_ENST00000424123.3_Missense_Mutation_p.R76H|BPTF_ENST00000306378.6_Missense_Mutation_p.R215H|BPTF_ENST00000335221.5_Missense_Mutation_p.R215H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	215					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATCGGCCTCGTTCTCCTATA	0.388000													26	161					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726226	53726226	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:53726226C>A	ENST00000262135.4	-	4	374	c.281G>T	c.(280-282)cGg>cTg	p.R94L	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R94L|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R94L|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R94L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	94					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R94L(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCCACCAACCCGCTCATATCT	0.418000													16	207					1.5739e-10	2.69525e-10	1	1	0
UNC79	57578	broad.mit.edu	37	14	94088734	94088734	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:94088734G>T	ENST00000553484.1	+	31	5375	c.5221G>T	c.(5221-5223)Gac>Tac	p.D1741Y	UNC79_ENST00000256339.4_Missense_Mutation_p.D1542Y|UNC79_ENST00000393151.2_Missense_Mutation_p.D1719Y|UNC79_ENST00000555664.1_Missense_Mutation_p.D1719Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1719						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CACTCTGGAAGACCCTATGGA	0.502000													16	103					6.31663e-08	9.6374e-08	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107866784	107866784	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:107866784C>T	ENST00000379028.3	-	9	1059	c.589G>A	c.(589-591)Ggt>Agt	p.G197S	NRCAM_ENST00000351718.4_Missense_Mutation_p.G191S|NRCAM_ENST00000379024.4_Missense_Mutation_p.G197S|NRCAM_ENST00000425651.2_Missense_Mutation_p.G197S|NRCAM_ENST00000413765.2_Missense_Mutation_p.G197S|NRCAM_ENST00000379022.4_Missense_Mutation_p.G197S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	197	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCATTCAAACCTTGAGAAACT	0.408000													47	87					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544254	103544254	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:103544254C>A	ENST00000358392.2	-	3	765	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.D150Y|COL11A1_ENST00000370096.3_Missense_Mutation_p.D150Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D150Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	150	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGGGATAGTCTTCTGGGGCA	0.373000													10	71					0.010729	0.0116225	1	1	0
IQCG	84223	broad.mit.edu	37	3	197665601	197665601	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:197665601C>A	ENST00000265239.6	-	5	757	c.333G>T	c.(331-333)atG>atT	p.M111I	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.M111I|IQCG_ENST00000453254.1_Missense_Mutation_p.M111I	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	111										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTGTTGAGGCCATTGGAAGTT	0.368000													13	352					2.32078e-09	3.76969e-09	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22940999	22940999	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:22940999C>A	ENST00000397104.3	-	5	1438	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ZNF99_ENST00000596209.1_Missense_Mutation_p.G571V					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTGCCACATTCTTC	0.353000													10	48					1.58986e-06	2.19736e-06	1	1	0
HS6ST1	9394	broad.mit.edu	37	2	129075886	129075886	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:129075886C>A	ENST00000259241.6	-	1	265	c.252G>T	c.(250-252)aaG>aaT	p.K84N	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	84					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGTCGTCGCCCTTCATGTCGA	0.647000													3	26					0.00909568	0.00987474	1	1	0
OAS2	4939	broad.mit.edu	37	12	113445588	113445588	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:113445588C>A	ENST00000392583.2	+	9	1942	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.Q579K	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	579	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGCCTGGGAGCAGGGGAGTGG	0.522000													11	121					0.00010058	0.000121664	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5478250	5478250	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:5478250C>G	ENST00000341928.2	-	3	711	c.371G>C	c.(370-372)tGt>tCt	p.C124S	RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000544123.1_Missense_Mutation_p.C124S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.C124S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.C124S|EPB41L3_ENST00000342933.3_Missense_Mutation_p.C124S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	124	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTACATCACAGGTATATTC	0.373000													10	87					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82182201	82182201	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:82182201A>T	ENST00000372181.1	+	2	677	c.207A>T	c.(205-207)ctA>ctT	p.L69L	FAM213A_ENST00000372187.5_Silent_p.L69L|FAM213A_ENST00000372188.1_Silent_p.L69L|FAM213A_ENST00000372185.1_Silent_p.L58L	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	69						extracellular region											CAAAGGAGCTATGGGAAAAAA	0.478000													11	46					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210445	228210445	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:228210445C>A	ENST00000284523.1	+	2	227	c.149C>A	c.(148-150)cCc>cAc	p.P50H	WNT3A_ENST00000366753.2_Missense_Mutation_p.P50H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	50					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGCCTGGTCCCCAAGCAGCTC	0.647000													6	55					0.0215528	0.0228632	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18474251	18474251	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:18474251A>T	ENST00000380548.4	+	1	360	c.21A>T	c.(19-21)gcA>gcT	p.A7A	ADAMTSL1_ENST00000276935.6_Silent_p.A7A|ADAMTSL1_ENST00000380570.4_Silent_p.A7A|ADAMTSL1_ENST00000327883.7_Silent_p.A7A|ADAMTSL1_ENST00000431052.2_Silent_p.A7A|ADAMTSL1_ENST00000380566.4_Silent_p.A7A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	7						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCCGTCGGGCAACTCCTGGCA	0.512000													14	105					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236195948	236195948	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:236195948G>T	ENST00000264187.6	-	6	1372	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	NID1_ENST00000366595.3_Silent_p.S430S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	430	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTCGCTGGGGGGAACCTGAGC	0.453000													4	65					1.23904e-05	1.602e-05	1	1	0
MYEF2	50804	broad.mit.edu	37	15	48458325	48458325	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:48458325C>A	ENST00000324324.7	-	4	703	c.423_splice	c.e4-1	p.G142_splice	MYEF2_ENST00000267836.6_Splice_Site_p.G142_splice	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	142	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TACCCACAACCCTATATCCAG	0.254000													10	64					7.48243e-07	1.05882e-06	1	1	0
ARID3C	138715	broad.mit.edu	37	9	34627741	34627741	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:34627741G>A	ENST00000378909.2	-	1	363	c.271C>T	c.(271-273)Cct>Tct	p.P91S		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGGAGTCCAGGGGGCTGGCTA	0.627000													5	52					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505742	27505742	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:27505742G>T	ENST00000296098.4	+	1	413	c.143G>T	c.(142-144)cGc>cTc	p.R48L	TRIM54_ENST00000380075.2_Missense_Mutation_p.R48L	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	48					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	p.R32H(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCTGTGCCGCAAATGTGCC	0.587000													46	212					1.65492e-34	3.43731e-34	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98522798	98522798	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:98522798G>T	ENST00000359863.4	+	22	3096	c.2887G>T	c.(2887-2889)Gcg>Tcg	p.A963S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A962S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A963S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	963					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCGGAGGCAGGCGTGGGAAGT	0.542000													25	72					1.55469e-16	3.02574e-16	1	1	0
ADH1B	125	broad.mit.edu	37	4	100235173	100235173	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:100235173G>A	ENST00000305046.8	-	6	700	c.633C>T	c.(631-633)ggC>ggT	p.G211G	ADH1B_ENST00000394887.3_Silent_p.G171G			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	211					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGCTTTACAGCCCATAACAG	0.498000													54	247					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767561	150767561	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:150767561A>T	ENST00000485713.1	+	11	2507	c.1467A>T	c.(1465-1467)ccA>ccT	p.P489P	SLC4A2_ENST00000413384.2_Silent_p.P489P|SLC4A2_ENST00000392826.2_Silent_p.P480P|SLC4A2_ENST00000461735.1_Silent_p.P475P|SLC4A2_ENST00000310317.5_Silent_p.P407P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	489					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCGCCTCCAGCACCACCAG	0.647000													3	19					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62205614	62205614	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:62205614C>A	ENST00000261517.5	-	62	8519	c.8445_splice	c.e62-1	p.V2816_splice	VPS13C_ENST00000395898.3_Splice_Site_p.V2773_splice|VPS13C_ENST00000249837.3_Splice_Site_p.V2773_splice|VPS13C_ENST00000395896.4_Splice_Site_p.V2816_splice	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2816					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTAATTGTACCTATACCAGA	0.358000													20	135					3.99206e-14	7.51297e-14	1	1	0
PROS1	5627	broad.mit.edu	37	3	93624899	93624899	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:93624899A>G	ENST00000394236.3	-	5	751	c.435T>C	c.(433-435)tgT>tgC	p.C145C	PROS1_ENST00000407433.1_Silent_p.C14C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	145	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AACCTGGTTTACAAGTGCAAG	0.448000													21	176					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062449	53062449	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:53062449G>T	ENST00000276480.7	-	16	2578	c.1895C>A	c.(1894-1896)tCc>tAc	p.S632Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	632						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTGTTAGAGGAAGTTAGGGG	0.438000													12	95					3.07112e-06	4.13291e-06	1	1	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810257	68810257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:68810257G>A	ENST00000508048.1	-	3	264	c.229C>T	c.(229-231)Cga>Tga	p.R77*	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Nonsense_Mutation_p.R78*|TMPRSS11A_ENST00000334830.7_Nonsense_Mutation_p.R78*			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	78	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GTCGTCTCTCGTAAGTCCTTA	0.338000													28	109					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201836004	201836004	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:201836004G>T	ENST00000361565.4	+	15	1841	c.1772G>T	c.(1771-1773)tGt>tTt	p.C591F		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	591					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						TGCATCGTTTGTACAGTAGAC	0.517000													25	170					1.10923e-09	1.82169e-09	1	1	0
KDM2B	84678	broad.mit.edu	37	12	121891041	121891041	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:121891041C>A	ENST00000377069.4	-	13	2154	c.1748G>T	c.(1747-1749)cGc>cTc	p.R583L	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Missense_Mutation_p.R614L|KDM2B_ENST00000536437.1_Missense_Mutation_p.R497L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	614					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCGCACTTGCGGCATCGCGT	0.697000													3	17					0.115264	0.119286	1	1	0
PIP5K1B	8395	broad.mit.edu	37	9	71491657	71491657	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:71491657T>A	ENST00000265382.3	+	6	570	c.265T>A	c.(265-267)Tta>Ata	p.L89I	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.L89I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	89	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATACGCTCCATTAGCATTCCG	0.373000													13	81					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86088357	86088357	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:86088357T>A	ENST00000377332.3	-	3	373	c.265A>T	c.(265-267)Act>Tct	p.T89S	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.T66S|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.T61S|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.T89S	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	89					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CATTCTTCAGTAGTATAATTT	0.343000													16	62					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183609476	183609476	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:183609476G>C	ENST00000511685.1	+	12	2316	c.2193G>C	c.(2191-2193)caG>caC	p.Q731H	TENM3_ENST00000406950.2_Missense_Mutation_p.Q731H|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		AATGCAGCCAGGGCTGGAATG	0.592000													10	49					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407048	50407048	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:50407048C>A	ENST00000217086.4	-	2	2085	c.1974G>T	c.(1972-1974)ctG>ctT	p.L658L	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	658					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATTCTCTGGCAGGGGCGTGT	0.547000													4	54					1	1	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149642051	149642051	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:149642051G>A	ENST00000370401.2	+	5	2327	c.2017G>A	c.(2017-2019)Gga>Aga	p.G673R	MAMLD1_ENST00000426613.2_Missense_Mutation_p.G648R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G673R|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000455522.2_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	673					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGCCTGGAGACGTGTC	0.488000													31	117					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612383	7612383	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:7612383G>T	ENST00000340080.4	+	4	698	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	MIOS_ENST00000405785.1_Missense_Mutation_p.G93C	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	93										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACAAGCCTTGGTCAAGATCA	0.398000													16	140					2.31682e-05	2.94417e-05	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125627324	125627324	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:125627324T>G	ENST00000431078.1	+	21	3782	c.3418T>G	c.(3418-3420)Ttg>Gtg	p.L1140V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1140	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTCACTCACCTTGGGCAAAGT	0.393000													4	35					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81884677	81884677	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:81884677C>A	ENST00000358105.3	+	6	662	c.613C>A	c.(613-615)Cca>Aca	p.P205T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P222T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	205										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTAGGCGCAGCCAGGTGACAA	0.323000													20	58					8.10497e-08	1.23279e-07	1	1	0
MYH8	4626	broad.mit.edu	37	17	10317596	10317596	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:10317596G>T	ENST00000403437.2	-	11	1015	c.921C>A	c.(919-921)acC>acA	p.T307T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	307	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGGGTTGGTGGTGATCAGGA	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				21	189					2.98393e-07	4.35548e-07	1	1	0
ATP11C	286410	broad.mit.edu	37	X	138886699	138886699	+	Silent	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:138886699T>G	ENST00000370557.1	-	6	1513	c.486A>C	c.(484-486)ctA>ctC	p.L162L	ATP11C_ENST00000327569.3_Silent_p.L165L|ATP11C_ENST00000361648.2_Silent_p.L165L|ATP11C_ENST00000359686.2_Silent_p.L165L|ATP11C_ENST00000370543.1_Silent_p.L165L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	165					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCAAGATGATAGAAGAATAA	0.373000													43	200					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14537829	14537829	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:14537829A>G	ENST00000358970.5	-	3	780	c.781T>C	c.(781-783)Tat>Cat	p.Y261H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	261										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCAGCACCATATAAGAGCAGT	0.363000													5	75					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432593	3432593	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:3432593T>A	ENST00000336727.3	+	17	4929	c.4025T>A	c.(4024-4026)cTg>cAg	p.L1342Q	RGS12_ENST00000382788.3_Missense_Mutation_p.L1342Q|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Missense_Mutation_p.L694Q|RGS12_ENST00000344733.5_Missense_Mutation_p.L1342Q	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1342						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCTGACCCTGATGGGGGAG	0.677000													7	32					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175348727	175348727	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:175348727G>T	ENST00000367674.1	-	9	2632	c.1924C>A	c.(1924-1926)Ccc>Acc	p.P642T	TNR_ENST00000263525.2_Missense_Mutation_p.P642T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	642	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P642T(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGCCCCTGGGGACCAGTACC	0.547000													5	55					5.9392e-07	8.50177e-07	1	1	0
SULF1	23213	broad.mit.edu	37	8	70536416	70536416	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:70536416G>T	ENST00000260128.4	+	15	2551	c.1834G>T	c.(1834-1836)Gtc>Ttc	p.V612F	SULF1_ENST00000419716.3_Missense_Mutation_p.V612F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.V612F|SULF1_ENST00000402687.4_Missense_Mutation_p.V612F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	612					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACCTACCACTGTCCGAGTGAC	0.512000													7	47					8.12818e-05	9.91291e-05	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766230	77766230	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:77766230A>T	ENST00000521891.2	+	10	7521	c.7073A>T	c.(7072-7074)cAa>cTa	p.Q2358L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2332L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2313L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2313L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2313	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GCCACTGATCAAGTGGTATAC	0.493000										HNSCC(33;0.089)			19	149					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921052	1921052	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:1921052C>A	ENST00000399161.2	-	11	2290	c.1543G>T	c.(1543-1545)Ggc>Tgc	p.G515C	MYT1L_ENST00000428368.2_Missense_Mutation_p.G513C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	515					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTACGTGGCCGGTTCCATCA	0.532000													40	154					6.45866e-13	1.18689e-12	1	1	0
PRDM5	11107	broad.mit.edu	37	4	121732566	121732566	+	Nonsense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:121732566T>A	ENST00000264808.3	-	8	1144	c.904A>T	c.(904-906)Aaa>Taa	p.K302*	PRDM5_ENST00000515109.1_Nonsense_Mutation_p.K271*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.K271*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	302					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAACACTTTTTATTGCACACT	0.269000													7	49					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632241	122632241	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:122632241G>T	ENST00000195173.4	-	17	2611	c.2308C>A	c.(2308-2310)Ccc>Acc	p.P770T	SEMA5B_ENST00000451055.2_Missense_Mutation_p.P825T|SEMA5B_ENST00000357599.3_Missense_Mutation_p.P771T			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	771	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCACTTCGGGGCAGCCCTCG	0.716000													4	11					0.150653	0.154188	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9236787	9236787	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:9236787C>A	ENST00000305444.2	-	1	839	c.840G>T	c.(838-840)gtG>gtT	p.V280V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGGGGTGACCACGGTATACA	0.458000													13	74					2.27111e-07	3.32483e-07	1	1	0
CDH16	1014	broad.mit.edu	37	16	66950328	66950328	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:66950328G>A	ENST00000299752.4	-	4	327	c.134C>T	c.(133-135)cCg>cTg	p.P45L	CDH16_ENST00000565796.1_Missense_Mutation_p.P45L|CDH16_ENST00000394055.3_Missense_Mutation_p.P45L|CDH16_ENST00000568632.1_Missense_Mutation_p.P45L|CDH16_ENST00000570262.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	45	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACGGGGCAGCGGCAACTGATG	0.582000													3	27					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38433709	38433709	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:38433709C>A	ENST00000356264.2	-	18	1719	c.1504G>T	c.(1504-1506)Ggg>Tgg	p.G502W	AMPH_ENST00000428293.2_Missense_Mutation_p.G460W|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.G460W	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	502					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTCCTTCCCCGGCAGGGACA	0.582000													23	128					9.95505e-16	1.91235e-15	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129275272	129275272	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:129275272C>A	ENST00000393239.1	-	36	5847		c.e36-1		PLXND1_ENST00000324093.4_Splice_Site|PLXND1_ENST00000504689.1_Intron			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGGCCATGATCTGAGGGGAGC	0.617000													11	66					3.86212e-05	4.82521e-05	1	1	0
KIAA1199	57214	broad.mit.edu	37	15	81173419	81173419	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:81173419C>A	ENST00000394685.3	+	6	978	c.559C>A	c.(559-561)Cgt>Agt	p.R187S	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R187S|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R187S			Q8WUJ3	K1199_HUMAN	KIAA1199	187			R -> C (in a family with non-syndromic hearing loss).|R -> H (in two unrelated families with non-syndromic hearing loss).							breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGGGCCACCGTGGAGTTAT	0.468000													20	145					1.9806e-07	2.94017e-07	1	1	0
CALHM2	51063	broad.mit.edu	37	10	105209550	105209550	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:105209550G>T	ENST00000393235.1	-	3	1346	c.149C>A	c.(148-150)cCg>cAg	p.P50Q	CALHM2_ENST00000260743.5_Missense_Mutation_p.P50Q|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Missense_Mutation_p.P50Q			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	50						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GTTCCGGGCCGGCGAGCAGGG	0.622000													15	59					1.49906e-05	1.92643e-05	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128367240	128367240	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:128367240C>A	ENST00000389524.4	+	23	3027	c.2974C>A	c.(2974-2976)Cgg>Agg	p.R992R	MYO7B_ENST00000428314.1_Silent_p.R992R|MYO7B_ENST00000409816.2_Silent_p.R992R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	992	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACACATCCGGCGGCCCCTCCG	0.587000													16	85					8.00594e-06	1.05442e-05	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121623874	121623874	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:121623874C>A	ENST00000393386.2	+	7	1186	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q259K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	259	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTCTGAAAGCCAGGTAATCTT	0.318000													11	98					3.86212e-05	4.82521e-05	1	1	0
WNK1	65125	broad.mit.edu	37	12	980429	980429	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:980429A>T	ENST00000537687.1	+	10	4021		c.e10-1		WNK1_ENST00000530271.2_Splice_Site|WNK1_ENST00000315939.6_Splice_Site|WNK1_ENST00000535572.1_Splice_Site|WNK1_ENST00000340908.4_Splice_Site	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTTTCCTTCAGGCACAGGGG	0.448000													7	54					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23388520	23388520	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:23388520G>T	ENST00000343070.2	+	9	1481	c.1305G>T	c.(1303-1305)gcG>gcT	p.A435A	SCNN1B_ENST00000568923.1_Silent_p.A408A|SCNN1B_ENST00000307331.5_Silent_p.A480A|SCNN1B_ENST00000568085.1_Silent_p.A399A	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	435					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGAGCGTGGCGCAGAGAGAGA	0.612000													4	25					0.150653	0.154188	1	1	0
SLC26A2	1836	broad.mit.edu	37	5	149360151	149360151	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:149360151C>T	ENST00000286298.4	+	3	1263	c.995C>T	c.(994-996)cCg>cTg	p.P332L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	332						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.P332L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTTAAGGCACCGATTCCTATT	0.383000													10	96					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74473699	74473699	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:74473699C>A	ENST00000323940.5	-	17	1866	c.1621G>T	c.(1621-1623)Gcc>Tcc	p.A541S	STRA6_ENST00000574278.1_Missense_Mutation_p.A556S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.A580S|STRA6_ENST00000535552.1_Missense_Mutation_p.A578S|STRA6_ENST00000449139.2_Missense_Mutation_p.A541S|STRA6_ENST00000423167.2_Missense_Mutation_p.A532S|STRA6_ENST00000416286.3_Missense_Mutation_p.A533S|STRA6_ENST00000395105.4_Missense_Mutation_p.A541S	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	541					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGGTGGATGGCGTTGTAGAGG	0.637000													8	35					5.4927e-09	8.74e-09	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458817	248458817	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248458817G>T	ENST00000317996.1	-	1	63	c.64C>A	c.(64-66)Cac>Aac	p.H22N		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGGACTTGGTGGGCTCTGGTG	0.478000													38	137					2.26627e-22	4.6166e-22	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135985807	135985807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:135985807C>A	ENST00000393160.3	-	3	552	c.199G>T	c.(199-201)Gag>Tag	p.E67*	RALGDS_ENST00000542690.1_Nonsense_Mutation_p.E193*|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.E121*|RALGDS_ENST00000372047.3_Nonsense_Mutation_p.E122*|RALGDS_ENST00000372050.3_Nonsense_Mutation_p.E122*|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.E105*	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	122					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACCAGCTTCTCCAGCGTGCCA	0.582000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								10	46					2.17888e-05	2.77601e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237777861	237777861	+	Silent	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:237777861A>C	ENST00000366574.2	+	37	5750	c.5433A>C	c.(5431-5433)ggA>ggC	p.G1811G	RYR2_ENST00000360064.6_Silent_p.G1809G|RYR2_ENST00000542537.1_Silent_p.G1795G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1811	4 X approximate repeats.				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)			ACCCAGTTGGAGGGACTACTG	0.483000													61	243					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485038	97485038	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:97485038C>T	ENST00000376705.2	+	2	1026	c.1002C>T	c.(1000-1002)aaC>aaT	p.N334N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	334						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)					GTGAAAGAAACACCATCCTGT	0.493000													4	69					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101514288	101514288	+	RNA	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:101514288A>T	ENST00000553692.1	+	0	28				MIR889_ENST00000401280.1_RNA																							TATGATGATTAATATCGGACA	0.428000													4	32					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32477882	32477882	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:32477882C>A	ENST00000266088.4	+	6	757	c.507C>A	c.(505-507)atC>atA	p.I169I	SLC5A1_ENST00000543737.1_Silent_p.I42I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	169					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCATATTCATCAATCTGGCCT	0.493000													21	138					8.04996e-18	1.58751e-17	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671717	151671717	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:151671717G>A	ENST00000402676.2	+	4	2431	c.2191G>A	c.(2191-2193)Ggt>Agt	p.G731S	AKAP12_ENST00000253332.1_Missense_Mutation_p.G731S|AKAP12_ENST00000359755.5_Missense_Mutation_p.G626S|AKAP12_ENST00000354675.6_Missense_Mutation_p.G633S	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	731					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GATCCTTGCTGGTTCCCAAGA	0.557000													17	116					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28587995	28587995	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:28587995C>A	ENST00000434452.1	-	11	1804	c.1650G>T	c.(1648-1650)ctG>ctT	p.L550L	DSC3_ENST00000360428.4_Silent_p.L550L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	550	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCTATTGCCAGGACTGTAA	0.308000													3	32					0.115264	0.119286	1	1	0
RGS22	26166	broad.mit.edu	37	8	101020743	101020743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:101020743G>A	ENST00000360863.6	-	15	2415	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Nonsense_Mutation_p.Q560*|RGS22_ENST00000523437.1_Nonsense_Mutation_p.Q729*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	741					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCTTTTCCTGTTGGAGTCCA	0.413000													10	40					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156917346	156917346	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:156917346G>A	ENST00000257527.4	-	19	2290	c.2212C>T	c.(2212-2214)Ctc>Ttc	p.L738F	ADAM19_ENST00000517905.1_Missense_Mutation_p.L738F|ADAM19_ENST00000430702.2_Missense_Mutation_p.L471F|ADAM19_ENST00000394020.1_Missense_Mutation_p.L740F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	738					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAAGGGAGAGCTGAGGGC	0.507000													15	78					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32598214	32598214	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:32598214C>T	ENST00000286827.3	-	8	2108	c.1637G>A	c.(1636-1638)tGc>tAc	p.C546Y	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.C546Y	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	546	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGTGGCGCAGGCAGAGTG	0.522000													6	41					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65686837	65686837	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:65686837G>A	ENST00000352385.2	-	9	1835	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	542	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CCACCCTGATGTCCGAAGGGT	0.602000													17	98					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259728	215259728	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:215259728C>G	ENST00000444842.2	+	2	214	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	KCNK2_ENST00000391894.2_Missense_Mutation_p.L7V|KCNK2_ENST00000391895.2_Missense_Mutation_p.L18V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	22							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACCTGACTTGCTGGATCCTAA	0.522000													4	76					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546732	50546732	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:50546732C>A	ENST00000267845.3	-	5	973	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	HDC_ENST00000543581.1_Missense_Mutation_p.D191Y	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	191					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTCACCTGGTCAGAGGCATAG	0.537000													12	48					1.49906e-05	1.92643e-05	1	1	0
BMP15	9210	broad.mit.edu	37	X	50659164	50659164	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:50659164G>A	ENST00000252677.3	+	2	736	c.736G>A	c.(736-738)Gct>Act	p.A246T		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	246					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CATTCGGAAGGCTAAATTTCT	0.463000													20	60					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951766	130951766	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:130951766G>T	ENST00000312988.7	-	4	749	c.649C>A	c.(649-651)Ctg>Atg	p.L217M		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	217					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCAATGTCCAGGTTGCGCCGA	0.542000													24	128					1.10923e-09	1.82169e-09	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124757285	124757285	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:124757285C>A	ENST00000306534.3	-	14	2652	c.2167G>T	c.(2167-2169)Gaa>Taa	p.E723*	ROBO4_ENST00000533054.1_Nonsense_Mutation_p.E578*|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	723	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGGGAGTTTCATGAGGAAAG	0.607000													15	58					8.28177e-16	1.5992e-15	1	1	0
ANK1	286	broad.mit.edu	37	8	41563750	41563750	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:41563750T>A	ENST00000396942.1	-	18	2091	c.2008A>T	c.(2008-2010)Act>Tct	p.T670S	ANK1_ENST00000352337.4_Missense_Mutation_p.T670S|ANK1_ENST00000347528.4_Missense_Mutation_p.T670S|ANK1_ENST00000379758.2_Missense_Mutation_p.T670S|ANK1_ENST00000396945.1_Missense_Mutation_p.T670S|ANK1_ENST00000265709.8_Missense_Mutation_p.T703S|ANK1_ENST00000289734.7_Missense_Mutation_p.T670S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	670	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)			TGGAGGGGAGTGAGTCCGCTC	0.532000													4	31					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730891	140730891	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140730891A>G	ENST00000523390.1	+	1	1064	c.1064A>G	c.(1063-1065)gAt>gGt	p.D355G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCAGAGGATTCAGACCTT	0.433000													5	35					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561121	11561121	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:11561121G>T	ENST00000294484.6	+	2	210	c.72G>T	c.(70-72)acG>acT	p.T24T	PTCHD2_ENST00000389575.3_Silent_p.T24T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	24					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AAGAAGCAACGGGTGAAACCT	0.632000													11	40					6.40141e-05	7.91768e-05	1	1	0
FYB	2533	broad.mit.edu	37	5	39202744	39202744	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:39202744C>A	ENST00000351578.6	-	2	509	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	FYB_ENST00000540520.1_Missense_Mutation_p.V117L|FYB_ENST00000505428.1_Missense_Mutation_p.V107L|FYB_ENST00000515010.1_Missense_Mutation_p.V107L|FYB_ENST00000512982.1_Missense_Mutation_p.V107L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	107					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AGAAATCCCACTTTCGCCTCG	0.542000													12	44					8.60227e-14	1.61279e-13	1	1	0
NUP153	9972	broad.mit.edu	37	6	17629326	17629326	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:17629326G>A	ENST00000262077.2	-	18	3103	c.3104C>T	c.(3103-3105)cCt>cTt	p.P1035L	NUP153_ENST00000537253.1_Missense_Mutation_p.P1066L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1035					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGTGTTAGCAGGAGCAGGGGT	0.448000													15	68					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134303519	134303519	+	Splice_Site	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:134303519T>A	ENST00000344129.2	-	2	504	c.279_splice	c.e2+1	p.K93_splice	CXorf48_ENST00000276241.6_Splice_Site_p.K93_splice	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	93										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					ACATCTCACCTTGATTGCTCT	0.413000													13	37					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229617	7229617	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:7229617G>T	ENST00000379938.2	+	10	1822	c.1285G>T	c.(1285-1287)Gcg>Tcg	p.A429S	RREB1_ENST00000349384.6_Missense_Mutation_p.A429S|RREB1_ENST00000334984.6_Missense_Mutation_p.A429S|RREB1_ENST00000379933.3_Missense_Mutation_p.A429S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	429					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTTCTCCCCGCGACCAAGGA	0.582000													12	79					3.07112e-06	4.13291e-06	1	1	0
BAZ1A	11177	broad.mit.edu	37	14	35331515	35331515	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:35331515G>C	ENST00000360310.1	-	3	694	c.127C>G	c.(127-129)Cga>Gga	p.R43G	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R43G|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R43G	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	43	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGAATGGTTCGTTCAAAAAAG	0.368000													22	143					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62377136	62377136	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:62377136C>A	ENST00000394773.2	-	5	906	c.599G>T	c.(598-600)gGg>gTg	p.G200V	EML3_ENST00000531557.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.G200V|EML3_ENST00000494176.2_Missense_Mutation_p.G172V|EML3_ENST00000278845.4_Missense_Mutation_p.G201V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	200						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAGGGCCCCCAGGGCTGGA	0.577000													32	246					6.53348e-20	1.30581e-19	1	1	0
TNN	63923	broad.mit.edu	37	1	175113615	175113615	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:175113615G>C	ENST00000239462.4	+	18	3801	c.3688G>C	c.(3688-3690)Ggt>Cgt	p.G1230R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1230	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACACATCATGGTGGCTGGTG	0.483000													10	71					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741775	37741775	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:37741775A>G	ENST00000400485.1	+	15	2185	c.2109A>G	c.(2107-2109)ctA>ctG	p.L703L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	703					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAACCAGCTACTCCTTGTCA	0.388000													17	77					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121676729	121676729	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:121676729A>C	ENST00000393386.2	+	18	5771	c.5360A>C	c.(5359-5361)tAt>tCt	p.Y1787S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y920S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1787	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATGCCAATTATGTTGATGTA	0.299000													9	51					0	0	1	0	0
MIR379	494328	broad.mit.edu	37	14	101488423	101488423	+	RNA	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:101488423C>G	ENST00000362218.3	+	0	58					NR_029871.1																						GACTATGGAACGTAGGCGTTA	0.512000													7	50					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984142	85984142	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:85984142G>T	ENST00000372113.4	-	2	844	c.839C>A	c.(838-840)cCc>cAc	p.P280H	LRIT2_ENST00000538192.1_Missense_Mutation_p.P280H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	280	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGATGGTGAGGGGCTGGCCTG	0.532000													10	46					4.68919e-08	7.19883e-08	1	1	0
GPNMB	10457	broad.mit.edu	37	7	23306147	23306147	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:23306147G>T	ENST00000258733.4	+	7	1325	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y	GPNMB_ENST00000381990.2_Missense_Mutation_p.D356Y|GPNMB_ENST00000453162.2_Missense_Mutation_p.D298Y|GPNMB_ENST00000539136.1_Missense_Mutation_p.D245Y			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	356					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACCTGCTGGTGACAACCCCCT	0.398000													10	70					6.40141e-05	7.91768e-05	1	1	0
SPANXC	64663	broad.mit.edu	37	X	140336571	140336571	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:140336571G>T	ENST00000358993.2	-	1	58	c.20C>A	c.(19-21)gCc>gAc	p.A7D		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	7						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CACCCCGCCGGCACTGGATTG	0.502000													34	98					5.71845e-15	1.09144e-14	1	1	0
CTNNBL1	56259	broad.mit.edu	37	20	36361319	36361319	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:36361319G>A	ENST00000361383.6	+	2	186	c.69G>A	c.(67-69)gaG>gaA	p.E23E	CTNNBL1_ENST00000405275.2_5'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	23	Poly-Glu.				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATGATGAAGAGGAGGAGCAGA	0.502000													6	42					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134108561	134108561	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:134108561C>A	ENST00000220616.4	+	43	7556	c.7516C>A	c.(7516-7518)Ctg>Atg	p.L2506M	SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.L876M|SLA_ENST00000518565.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.L639M|TG_ENST00000377869.1_Missense_Mutation_p.L2449M|SLA_ENST00000395352.3_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2506					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGGTCGATCTGCTCATTGG	0.577000													28	151					1.55811e-20	3.12676e-20	1	1	0
SYT16	83851	broad.mit.edu	37	14	62463160	62463160	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:62463160G>T	ENST00000430451.2	+	1	620	c.423G>T	c.(421-423)gcG>gcT	p.A141A	SYT16_ENST00000446982.2_Silent_p.A141A	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	141										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTTCTATTGCGGAGGAAGAGC	0.473000													21	119					9.95505e-16	1.91235e-15	1	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929861	32929861	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:32929861G>T	ENST00000361627.3	+	12	3609	c.2887G>T	c.(2887-2889)Gat>Tat	p.D963Y	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D774Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D774Y	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	963					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GGTTCCCTTGGATGATCTGAC	0.383000													11	67					1.08611e-07	1.63191e-07	1	1	0
MSH2	4436	broad.mit.edu	37	2	47690261	47690261	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:47690261A>T	ENST00000406134.1	+	9	1540	c.1478A>T	c.(1477-1479)cAg>cTg	p.Q493L	MSH2_ENST00000543555.1_Missense_Mutation_p.Q427L|MSH2_ENST00000233146.2_Missense_Mutation_p.Q493L			P43246	MSH2_HUMAN	mutS homolog 2	493					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGAAGATGCAGTCAACATTA	0.343000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				16	107					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201399808	201399808	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:201399808A>G	ENST00000357799.4	+	3	321	c.223A>G	c.(223-225)Att>Gtt	p.I75V	SGOL2_ENST00000409203.3_Missense_Mutation_p.I75V	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	75					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCTCGAAGAATTACAACTGA	0.313000													13	83					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3430124	3430124	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:3430124C>A	ENST00000529482.1	+	0	2253																											CAGGGCAAATCCTTTCGAGCA	0.557000													5	19					0.014758	0.0158251	1	1	0
PM20D1	148811	broad.mit.edu	37	1	205819059	205819059	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:205819059G>T	ENST00000367136.4	-	1	186	c.142C>A	c.(142-144)Cgc>Agc	p.R48S	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	48						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ATCGCGACGCGTTCCTCTTTG	0.602000													16	73					7.07596e-05	8.73743e-05	1	1	0
ZC4H2	55906	broad.mit.edu	37	X	64140089	64140089	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:64140089C>A	ENST00000545618.1	-	4	818	c.255G>T	c.(253-255)ctG>ctT	p.L85L	ZC4H2_ENST00000374839.3_Silent_p.L90L|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.L67L|ZC4H2_ENST00000447788.2_Silent_p.L90L			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	90							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TAGACTCTAGCAGCTTGTTTA	0.473000													22	96					4.26978e-12	7.61067e-12	1	1	0
GPR111	222611	broad.mit.edu	37	6	47641198	47641198	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:47641198C>T	ENST00000398742.2	+	1	92	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	GPR111_ENST00000507065.1_Missense_Mutation_p.P15S|GPR111_ENST00000296862.1_Intron			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTTCTTTTGCCCACAGAGTC	0.388000													11	88					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366567	248366567	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248366567G>C	ENST00000456743.1	+	1	236	c.198G>C	c.(196-198)ctG>ctC	p.L66L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCAGCCAACTGTCCCTCATGG	0.542000													70	528					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884514	52884514	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:52884514G>T	ENST00000330722.6	-	5	984	c.916C>A	c.(916-918)Ctg>Atg	p.L306M		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	306	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCTGGGACAGCTCCTGCAGA	0.507000													24	121					1.64293e-13	3.06474e-13	1	1	0
ALG10	84920	broad.mit.edu	37	12	34178815	34178815	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:34178815G>T	ENST00000266483.2	+	3	706	c.387G>T	c.(385-387)caG>caT	p.Q129H	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAAGTATCCAGAGAGTCTTGT	0.303000													17	97					1.50039e-11	2.63948e-11	1	1	0
SMG1	23049	broad.mit.edu	37	16	18866197	18866197	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:18866197T>A	ENST00000446231.2	-	30	4676	c.4264A>T	c.(4264-4266)Atg>Ttg	p.M1422L	SMG1_ENST00000389467.3_Missense_Mutation_p.M1422L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1422	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTAATTCCATGAGATGGCTT	0.418000													12	77					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166580164	166580164	+	Silent	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:166580164C>G	ENST00000296946.2	-	3	855	c.387G>C	c.(385-387)tcG>tcC	p.S129S	T_ENST00000366871.3_Silent_p.S129S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	129					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGAAGTTGGGCGAGTCGGGGT	0.657000									Chordoma, Familial Clustering of				12	79					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185987352	185987352	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:185987352G>C	ENST00000271588.4	+	34	5567	c.5338G>C	c.(5338-5340)Gga>Cga	p.G1780R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G1780R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1780	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAAGGGATGGATTCAAGAT	0.388000													14	168					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618023	89618023	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:89618023G>T	ENST00000294671.2	-	5	691	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	185						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTCAGCTCCAGGGTAAAATCT	0.468000													16	116					1.52009e-12	2.77281e-12	1	1	0
RAPGEF1	2889	broad.mit.edu	37	9	134467558	134467558	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:134467558T>A	ENST00000372195.1	-	15	2438	c.2195A>T	c.(2194-2196)tAc>tTc	p.Y732F	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.Y733F|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.Y715F			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	715	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGCCTCGCAGTACAACACCAA	0.532000													15	49					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538870	56538870	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:56538870C>A	ENST00000390649.3	+	7	1271	c.1271C>A	c.(1270-1272)cCc>cAc	p.P424H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	424	NACHT.					mitochondrion|nucleolus	ATP binding	p.P424L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCGTGTCTCCCCGTTACCTG	0.552000													11	25					1.58986e-06	2.19736e-06	1	1	0
NET1	10276	broad.mit.edu	37	10	5498651	5498651	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:5498651T>C	ENST00000355029.4	+	12	1627	c.1485T>C	c.(1483-1485)tgT>tgC	p.C495C	NET1_ENST00000380359.3_Silent_p.C441C|NET1_ENST00000542715.1_Silent_p.C314C	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	495	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GGTTCAACTGTATTCGAGCGG	0.567000													17	105					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167617511	167617511	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:167617511T>A	ENST00000519204.1	+	13	2494	c.2376T>A	c.(2374-2376)gaT>gaA	p.D792E	TENM2_ENST00000518659.1_Missense_Mutation_p.D913E|TENM2_ENST00000520394.1_Missense_Mutation_p.D681E|TENM2_ENST00000403607.2_Missense_Mutation_p.D737E|TENM2_ENST00000545108.1_Missense_Mutation_p.D913E					teneurin transmembrane protein 2																		CAGGCAAGGATAGCACCCACA	0.557000													5	26					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152289	149152289	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:149152289G>C	ENST00000247930.4	-	2	1148	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCCATTGCTGCCGGGGGGCA	0.522000													21	137					0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833637	37833637	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:37833637G>T	ENST00000399137.1	-	3	1223	c.357C>A	c.(355-357)atC>atA	p.I119I	CLDN14_ENST00000399136.1_Silent_p.I119I|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399139.1_Silent_p.I119I|CLDN14_ENST00000342108.2_Silent_p.I119I|CLDN14_ENST00000399135.1_Silent_p.I119I	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	119					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGCCGCCGAGGATGGCAAAGG	0.657000													13	71					2.32078e-09	3.76969e-09	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248637272	248637272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248637272C>A	ENST00000359594.2	+	1	646	c.621C>A	c.(619-621)tgC>tgA	p.C207*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C207*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACCTGTGCTGCATCCTCA	0.537000													37	342					2.91434e-09	4.70802e-09	1	1	0
OTOF	9381	broad.mit.edu	37	2	26688940	26688940	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:26688940G>A	ENST00000272371.2	-	37	4631	c.4505C>T	c.(4504-4506)aCg>aTg	p.T1502M	OTOF_ENST00000339598.3_Missense_Mutation_p.T735M|OTOF_ENST00000338581.6_Missense_Mutation_p.T735M|OTOF_ENST00000403946.3_Missense_Mutation_p.T1502M|OTOF_ENST00000402415.3_Missense_Mutation_p.T812M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1502	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCAGGTCCGTGGCCTGGAA	0.602000													4	42					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187885	152187885	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152187885C>A	ENST00000368801.2	-	3	6295	c.6220G>T	c.(6220-6222)Ggg>Tgg	p.G2074W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2074					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTTGACCCAGACCCACGC	0.632000													39	276					3.09479e-21	6.25282e-21	1	1	0
OR4L1	122742	broad.mit.edu	37	14	20528620	20528620	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20528620G>T	ENST00000315683.1	+	1	417	c.417G>T	c.(415-417)aaG>aaT	p.K139N		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGAGCCACAAGCTGCTAAAGG	0.423000													22	146					3.5997e-14	6.80045e-14	1	1	0
OR10A7	121364	broad.mit.edu	37	12	55615645	55615645	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:55615645T>A	ENST00000326258.1	+	1	837	c.837T>A	c.(835-837)acT>acA	p.T279T		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGTCCTACACTGTCATCACAC	0.488000													10	84					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483429	102483429	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:102483429G>T	ENST00000369138.1	+	14	2789	c.2299G>T	c.(2299-2301)Ggc>Tgc	p.G767C	GRIK2_ENST00000369137.3_Missense_Mutation_p.G691C|GRIK2_ENST00000421544.1_Missense_Mutation_p.G767C|GRIK2_ENST00000413795.1_Missense_Mutation_p.G767C|GRIK2_ENST00000318991.6_Missense_Mutation_p.G767C|GRIK2_ENST00000369134.4_Missense_Mutation_p.G718C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	767					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTATGGCGTTGGCACTCCCAT	0.443000													21	114					2.4624e-09	3.98661e-09	1	1	0
IRF4	3662	broad.mit.edu	37	6	398864	398864	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:398864C>A	ENST00000380956.4	+	6	800	c.674C>A	c.(673-675)cCa>cAa	p.P225Q		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	225					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCTTGTGCCCCACCTGAGTCC	0.567000			T	IGH@	MM								12	27					3.07112e-06	4.13291e-06	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961936	34961936	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:34961936C>A	ENST00000329357.5	+	1	1024	c.988C>A	c.(988-990)Cat>Aat	p.H330N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	330										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGAGTGTCCCATCTCTGCCT	0.602000													12	65					0.00185496	0.00210797	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1514007	1514007	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:1514007A>T	ENST00000421627.2	+	3	1283	c.1149A>T	c.(1147-1149)ctA>ctT	p.L383L	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	462					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGCAATCCTACCAGAGCCGC	0.567000													4	17					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52508992	52508992	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:52508992A>C	ENST00000242839.4	-	21	4454	c.4298T>G	c.(4297-4299)cTg>cGg	p.L1433R	ATP7B_ENST00000417240.2_Missense_Mutation_p.L644R|ATP7B_ENST00000344297.5_Missense_Mutation_p.L1226R|ATP7B_ENST00000400366.3_Missense_Mutation_p.L1322R|ATP7B_ENST00000400370.3_Missense_Mutation_p.L1003R|ATP7B_ENST00000418097.2_Missense_Mutation_p.L1368R|ATP7B_ENST00000448424.2_Missense_Mutation_p.L1355R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1433					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GTCGGACGTCAGGGAGGACAG	0.602000									Wilson disease				7	64					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169186775	169186775	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:169186775C>G	ENST00000256935.8	+	24	2523	c.2443C>G	c.(2443-2445)Ctc>Gtc	p.L815V	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L307V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	815					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCGAAGTTACTCAGGTGAGA	0.478000													12	76					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53814547	53814547	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:53814547G>T	ENST00000343017.6	+	1	959	c.765G>T	c.(763-765)ggG>ggT	p.G255G	SNX18_ENST00000326277.3_Silent_p.G255G|SNX18_ENST00000381410.4_Silent_p.G255G	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	255					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGAAGGACGGGGACAAGCTGT	0.657000													6	78					8.12818e-05	9.91291e-05	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6732169	6732169	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:6732169T>C	ENST00000405858.1	-	5	945	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Intron|ZNF12_ENST00000404360.1_Intron	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	135					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTATTTTTATAGGCTATTTT	0.363000													33	268					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492602	198492602	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:198492602C>G	ENST00000367381.1	-	5	399	c.294G>C	c.(292-294)atG>atC	p.M98I	ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M98I|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M92I|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.M92I			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	92					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TCACACTTTCCATATACTTAT	0.378000													4	36					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276224	152276224	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152276224T>A	ENST00000368799.1	-	3	11173	c.11138A>T	c.(11137-11139)cAg>cTg	p.Q3713L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3713	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCTCACCTGGTAGAGGAA	0.622000									Ichthyosis				61	387					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596425	58596425	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:58596425C>A	ENST00000240727.6	-	7	1559	c.1160G>T	c.(1159-1161)aGc>aTc	p.S387I	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S387I|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.S251I|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S443I	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	387					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTCGCCGGAGCTAGAGACGCC	0.731000													5	15					5.9392e-07	8.50177e-07	1	1	0
TLL2	7093	broad.mit.edu	37	10	98130016	98130016	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:98130016G>T	ENST00000357947.3	-	20	2944	c.2719C>A	c.(2719-2721)Cag>Aag	p.Q907K		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	907	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCCCAAACTGGGCGTGGGAA	0.602000											OREG0020396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	61					1.49906e-05	1.92643e-05	1	1	0
CEP350	9857	broad.mit.edu	37	1	180003076	180003076	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:180003076G>A	ENST00000367607.3	+	16	4223	c.3805G>A	c.(3805-3807)Gac>Aac	p.D1269N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1269	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATTGCAGTTTGACGTTGCAGG	0.433000													11	112					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51317536	51317536	+	Splice_Site	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:51317536G>A	ENST00000266037.9	+	27	2846		c.e27-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGGTCCCTAGGGCGAGTATG	0.537000													3	21					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495352	6495352	+	Silent	SNP	C	C	G	rs144735419		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:6495352C>G	ENST00000264071.2	-	4	1529	c.1158G>C	c.(1156-1158)acG>acC	p.T386T	TUBB4A_ENST00000540257.1_Silent_p.T386T			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	386					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGAACATGGCCGTGAACTGCT	0.617000													40	194					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99764146	99764146	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:99764146G>A	ENST00000360039.4	-	3	800	c.408C>T	c.(406-408)caC>caT	p.H136H	GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000413800.1_Silent_p.H136H|GAL3ST4_ENST00000423751.1_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	136					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAACCTCATGTGGTGACAGA	0.592000													38	81					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94546251	94546251	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:94546251C>T	ENST00000370225.3	-	8	968	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ABCA4_ENST00000535735.1_Silent_p.Q294Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	294					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACAGCAAGTCCTGCATACTCG	0.527000													15	57					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202407172	202407172	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:202407172G>T	ENST00000480184.1	+	10	1610	c.1478G>T	c.(1477-1479)tGg>tTg	p.W493L	PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	493					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGGAGGGTATGGGGGAATTCC	0.408000													10	61					2.74318e-10	4.63869e-10	1	1	0
DOPEY1	23033	broad.mit.edu	37	6	83843957	83843957	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:83843957A>G	ENST00000349129.2	+	19	3081	c.2821A>G	c.(2821-2823)Aga>Gga	p.R941G	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R932G|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R922G	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	941					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCATCTAACGAGAGATCTCCA	0.338000													10	36					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52238379	52238379	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:52238379G>T	ENST00000371710.3	+	14	1390	c.1208G>T	c.(1207-1209)gGa>gTa	p.G403V	OSBPL9_ENST00000337809.4_Missense_Mutation_p.G390V|OSBPL9_ENST00000361556.5_Missense_Mutation_p.G275V|OSBPL9_ENST00000462759.1_Missense_Mutation_p.G207V|OSBPL9_ENST00000435686.2_Missense_Mutation_p.G220V|OSBPL9_ENST00000486942.1_Missense_Mutation_p.G207V|OSBPL9_ENST00000531828.1_Missense_Mutation_p.G220V|OSBPL9_ENST00000447887.1_Missense_Mutation_p.G395V|OSBPL9_ENST00000453295.1_Missense_Mutation_p.G368V|OSBPL9_ENST00000530544.1_Missense_Mutation_p.G304V|OSBPL9_ENST00000428468.1_Missense_Mutation_p.G385V|OSBPL9_ENST00000371714.1_Missense_Mutation_p.G372V	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	385					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GTTAGACTTGGAATGGATCTT	0.453000													16	183					2.23348e-06	3.04435e-06	1	1	0
APOB	338	broad.mit.edu	37	2	21228652	21228652	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:21228652A>C	ENST00000233242.1	-	26	11215	c.11088T>G	c.(11086-11088)atT>atG	p.I3696M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3696					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)	GTCTCCTACCAATGCTGGTGG	0.418000													29	107					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103573716	103573716	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:103573716T>C	ENST00000358392.2	-	1	336	c.19A>G	c.(19-21)Agg>Ggg	p.R7G	COL11A1_ENST00000512756.1_Missense_Mutation_p.R7G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R7G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R7G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	7					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTTTCCACCTAGAGGACCAC	0.522000													6	22					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752243	247752243	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247752243C>T	ENST00000320065.1	+	1	582	c.582C>T	c.(580-582)ggC>ggT	p.G194G	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTGTGTGGGCACCACGTTTA	0.537000													23	157					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108051303	108051303	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:108051303G>C	ENST00000280758.5	+	17	3651	c.3123G>C	c.(3121-3123)gaG>gaC	p.E1041D	BTBD11_ENST00000420571.2_Missense_Mutation_p.E922D|BTBD11_ENST00000494235.2_Missense_Mutation_p.E120D|BTBD11_ENST00000357167.4_Missense_Mutation_p.E578D	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1041						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGTCACAGAGCTCTCAGCAT	0.448000													7	65					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142841163	142841163	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:142841163C>A	ENST00000309575.3	+	2	2889	c.1505C>A	c.(1504-1506)cCc>cAc	p.P502H		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	502					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGCTACCAGCCCATGGCCGTC	0.602000													7	48					8.12818e-05	9.91291e-05	1	1	0
MYF5	4617	broad.mit.edu	37	12	81112822	81112822	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:81112822G>A	ENST00000228644.3	+	3	912	c.760G>A	c.(760-762)Gtg>Atg	p.V254M		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	254					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TATCTATCATGTGCTATGAAC	0.473000													12	64					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98956026	98956026	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:98956026C>T	ENST00000432884.2	+	9	1097	c.636C>T	c.(634-636)agC>agT	p.S212S	ARPC1A_ENST00000262942.5_Silent_p.S259S|ARPC1A_ENST00000471960.1_3'UTR			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	259					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CAGAGAACAGCGTCGTGGCTG	0.488000													16	47					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476013	65476013	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:65476013G>A	ENST00000519389.1	+	17	3078	c.2899G>A	c.(2899-2901)Gga>Aga	p.G967R	HEPH_ENST00000441993.2_Missense_Mutation_p.G916R|HEPH_ENST00000343002.2_Missense_Mutation_p.G913R|HEPH_ENST00000336279.5_Missense_Mutation_p.G646R|HEPH_ENST00000419594.1_Missense_Mutation_p.G724R|HEPH_ENST00000374727.3_Missense_Mutation_p.G916R			Q9BQS7	HEPH_HUMAN	hephaestin	913	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCCCCATGGAGGACGGAGTGA	0.498000													13	67					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568435	52568435	+	Silent	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:52568435A>C	ENST00000389534.4	-	7	3159	c.2700T>G	c.(2698-2700)gcT>gcG	p.A900A	ZNF841_ENST00000359973.2_Silent_p.A476A|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.A900A|ZNF841_ENST00000426391.2_Silent_p.A784A	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTTCTCTCCAGCATGTTTTA	0.373000													10	39					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039156	75039156	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:75039156C>A	ENST00000326665.5	-	14	2456	c.2238G>T	c.(2236-2238)atG>atT	p.M746I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	746	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCATCCACCATGAAATTCA	0.373000													13	64					0.105934	0.110712	1	1	0
FGFR1OP	11116	broad.mit.edu	37	6	167417874	167417874	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:167417874G>T	ENST00000366847.3	+	5	654	c.423G>T	c.(421-423)ggG>ggT	p.G141G	FGFR1OP_ENST00000349556.4_Silent_p.G141G	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	141					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		AAGAAAAAGGGCCAACCACTG	0.373000			T	FGFR1	"""MPD, NHL"""								9	54					2.27111e-07	3.32483e-07	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296553	39296553	+	Missense_Mutation	SNP	G	G	A	rs73983172	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:39296553G>A	ENST00000345847.4	-	1	186	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	63	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagcagctgggacggcagcAG	0.667000													4	78					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919275	51919275	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:51919275A>G	ENST00000353836.5	-	5	1122	c.901T>C	c.(901-903)Tgg>Cgg	p.W301R	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.W218R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.W243R|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.W243R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.W301R|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.W253R|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.W301R	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	301	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTAGGGCCCCAGGGATGGGAC	0.667000													5	22					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792873	35792873	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:35792873A>G	ENST00000342694.2	+	1	723	c.468A>G	c.(466-468)ctA>ctG	p.L156L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	156					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGGTGACACTACACGGGCACT	0.567000													22	87					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66213922	66213922	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:66213922C>A	ENST00000273854.3	-	15	3109		c.e15-1		EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTTCCTCCCTAAAATTGAA	0.388000										TSP Lung(17;0.13)			19	109					2.94398e-08	4.56687e-08	1	1	0
IL16	3603	broad.mit.edu	37	15	81517752	81517752	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:81517752C>A	ENST00000394660.2	+	2	372	c.12C>A	c.(10-12)caC>caA	p.H4Q	IL16_ENST00000302987.4_Missense_Mutation_p.H4Q	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	4					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGAGTCGCACAGCCGCGCTG	0.547000													5	28					1.23904e-05	1.602e-05	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112677017	112677017	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:112677017C>G	ENST00000550722.1	-	34	5086	c.4691G>C	c.(4690-4692)cGc>cCc	p.R1564P	HECTD4_ENST00000430131.2_Missense_Mutation_p.R1288P|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1538P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AAGGCCACTGCGTACCAGGCA	0.512000													18	85					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248113003	248113003	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248113003C>G	ENST00000357191.3	+	1	844	c.844C>G	c.(844-846)Cca>Gca	p.P282A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCCTCACCCCAATGCTCAA	0.483000													17	148					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38404208	38404208	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:38404208G>T	ENST00000351773.3	+	7	1058	c.228G>T	c.(226-228)caG>caT	p.Q76H	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000361085.4_Missense_Mutation_p.Q76H	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	76	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q76Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTCCAAGCCAGAGTCATCTGG	0.393000													9	29					5.4927e-09	8.74e-09	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72935251	72935251	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:72935251G>T	ENST00000262209.4	-	27	3457	c.3250C>A	c.(3250-3252)Cat>Aat	p.H1084N	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1084						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAGAACAATGGCTATCATCA	0.403000													16	83					0.0242445	0.0256819	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142575695	142575695	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142575695C>T	ENST00000359396.3	-	2	458	c.213G>A	c.(211-213)aaG>aaA	p.K71K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	71					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTGGTGCACCTTGCAATCCT	0.537000													10	83					0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266188	225266188	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:225266188G>T	ENST00000389874.3	-	1	523	c.298C>A	c.(298-300)Cag>Aag	p.Q100K	FAM124B_ENST00000409685.3_Missense_Mutation_p.Q100K|FAM124B_ENST00000243806.2_Missense_Mutation_p.Q100K	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	100							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CGAGTGTCCTGGGTGGGGTAG	0.587000													12	35					3.07112e-06	4.13291e-06	1	1	0
RYR2	6262	broad.mit.edu	37	1	237789102	237789102	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:237789102C>A	ENST00000366574.2	+	40	6481	c.6164C>A	c.(6163-6165)tCc>tAc	p.S2055Y	RYR2_ENST00000360064.6_Missense_Mutation_p.S2053Y|RYR2_ENST00000542537.1_Missense_Mutation_p.S2039Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2055	4 X approximate repeats.				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	p.S2053Y(1)		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)			TCCAAAAAGTCCTGTAAGCAG	0.423000													8	36					0.27861	0.281457	1	1	0
CLEC18B	497190	broad.mit.edu	37	16	74447481	74447481	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:74447481G>A	ENST00000339953.5	-	4	671	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	184						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTTACCCGGGGGAGTAGGCA	0.612000													7	131					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42172193	42172193	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:42172193G>T	ENST00000401548.3	+	21	2672	c.2632G>T	c.(2632-2634)Gtg>Ttg	p.V878L	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.V246L|MEI1_ENST00000540880.1_Missense_Mutation_p.V196L	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	878							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGATATCCAAGTGGGCGGTCT	0.572000													12	48					2.27111e-07	3.32483e-07	1	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36248807	36248807	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:36248807C>A	ENST00000315571.5	+	5	648	c.627C>A	c.(625-627)caC>caA	p.H209Q	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.H199Q|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.H160Q	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	209						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TGCCCGTGCACCGGCTGCAGC	0.612000													13	40					1.5842e-08	2.49402e-08	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119568529	119568529	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:119568529C>A	ENST00000267260.4	+	8	1049	c.661C>A	c.(661-663)Cac>Aac	p.H221N	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	221	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCGCCGAAGGCACTCCCGCCG	0.662000													3	24					0.00909568	0.00987474	1	1	0
GALNT7	51809	broad.mit.edu	37	4	174216996	174216996	+	Splice_Site	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:174216996T>A	ENST00000265000.4	+	5	1048		c.e5+2		GALNT7_ENST00000512285.1_Splice_Site	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)						protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TAAGGACAGGTAACATTACCT	0.403000													10	51					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385824	79385824	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:79385824G>C	ENST00000393878.1	-	2	402	c.148C>G	c.(148-150)Cac>Gac	p.H50D	REG3A_ENST00000409839.3_Missense_Mutation_p.H50D|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.H50D	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	50	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.H50N(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCATAGCAGTGGGAGCCATAG	0.567000													8	42					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428394	1428394	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:1428394G>T	ENST00000355432.3	+	11	1195	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						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)	TGTAGGAATGGCATGGACATC	0.463000													24	150					4.7796e-09	7.63809e-09	1	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142231813	142231813	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142231813C>A	ENST00000390364.3	-	0	171																											CACCTGCCTTCCTGTCTCTGT	0.493000													27	116					8.24728e-16	1.5967e-15	1	1	0
SOBP	55084	broad.mit.edu	37	6	107955117	107955117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:107955117G>T	ENST00000317357.5	+	6	1728	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	357	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCCCATCAGCGAGACTCCAAA	0.632000													21	88					1.2644e-06	1.77399e-06	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140812204	140812204	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140812204G>T	ENST00000252085.3	+	1	2020	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGGTGCGCACGGCGC	0.692000													18	112					8.04996e-18	1.58751e-17	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33513327	33513327	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:33513327T>A	ENST00000268876.5	+	20	2642	c.2545T>A	c.(2545-2547)Tgg>Agg	p.W849R	UNC45B_ENST00000394570.2_Missense_Mutation_p.W847R|UNC45B_ENST00000378449.1_Missense_Mutation_p.W768R|UNC45B_ENST00000433649.1_Missense_Mutation_p.W847R|UNC45B_ENST00000591048.1_Missense_Mutation_p.W768R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	849					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACAACCCAGTGGTTGGAGAT	0.562000													7	81					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088162	86088162	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:86088162G>T	ENST00000330753.4	+	2	1071	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.E102*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	102					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.E102K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCAACTGGACGAATTCCCCAT	0.468000													13	133					5.50884e-06	7.26833e-06	1	1	0
FLT4	2324	broad.mit.edu	37	5	180043473	180043473	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:180043473A>T	ENST00000261937.6	-	23	3191	c.3113T>A	c.(3112-3114)cTg>cAg	p.L1038Q	FLT4_ENST00000502649.1_Missense_Mutation_p.L1038Q|FLT4_ENST00000393347.3_Missense_Mutation_p.L1038Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1038	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCGAGCAGCCAGGTCTCTGTG	0.622000													7	52					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701621	179701621	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:179701621C>A	ENST00000295723.5	-	13	2656	c.2600G>T	c.(2599-2601)tGg>tTg	p.W867L	CCDC141_ENST00000420890.2_Splice_Site_p.W1442_splice|CCDC141_ENST00000480419.1_5'UTR			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	867	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCTACCCACCATGTCAGTGT	0.413000													5	60					2.0095e-06	2.75169e-06	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43828102	43828102	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:43828102T>C	ENST00000389420.3	-	19	2665	c.2666A>G	c.(2665-2667)cAc>cGc	p.H889R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H889R|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.H43R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	889	TSP type-1 2.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAGTGGCAAGTGGTCACATTC	0.333000													3	6					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48921775	48921775	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:48921775C>A	ENST00000310194.1	+	2	969	c.969C>A	c.(967-969)acC>acA	p.T323T	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T323T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CAGCCTTCACCGAAGGCCGCA	0.642000													3	27					6.4e-05	7.91768e-05	1	1	0
SERPINB7	8710	broad.mit.edu	37	18	61449763	61449763	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:61449763C>A	ENST00000398019.2	+	2	482	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	SERPINB7_ENST00000540675.1_Missense_Mutation_p.Q53K|SERPINB7_ENST00000546027.1_Missense_Mutation_p.Q53K|SERPINB7_ENST00000336429.2_Missense_Mutation_p.Q53K	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	53					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTCCCTCTCTCAGATTGATAA	0.483000													5	95					0.014758	0.0158251	1	1	0
SPRR2E	6704	broad.mit.edu	37	1	153066119	153066119	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:153066119G>C	ENST00000368751.1	-	2	183	c.109C>G	c.(109-111)Cca>Gca	p.P37A	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P37A			P22531	SPR2E_HUMAN	small proline-rich protein 2E	37	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTGGTGGTGGGCAGGGCTCA	0.627000													38	223					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990361	166990361	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:166990361T>A	ENST00000367872.4	+	11	1325	c.1081T>A	c.(1081-1083)Tct>Act	p.S361T	MAEL_ENST00000367870.2_Missense_Mutation_p.S330T|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	361					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCATTTCAACTCTTCTAATGA	0.363000													11	80					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789390	164789390	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:164789390G>T	ENST00000420696.2	+	7	1267	c.1079G>T	c.(1078-1080)gGg>gTg	p.G360V	PBX1_ENST00000559240.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540236.1_Missense_Mutation_p.G360V|PBX1_ENST00000540246.1_Missense_Mutation_p.G255V|PBX1_ENST00000560641.1_Missense_Mutation_p.G255V|PBX1_ENST00000367897.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	360					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCTTACCAAGGGGCCCAGGTT	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								15	93					2.32078e-09	3.76969e-09	1	1	0
OR2M4	26245	broad.mit.edu	37	1	248402679	248402679	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248402679C>A	ENST00000306687.1	+	1	449	c.449C>A	c.(448-450)aCc>aAc	p.T150N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTTCCTGGACCTTGGGGTCT	0.468000													23	210					1.10513e-12	2.02585e-12	1	1	0
CSNK2A1	1457	broad.mit.edu	37	20	480524	480524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:480524C>A	ENST00000217244.3	-	5	643	c.268G>T	c.(268-270)Gga>Tga	p.G90*	CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_De_novo_Start_OutOfFrame|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.G90*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.G90*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	90	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTGGGACCTCCTCTCAAATTC	0.388000													15	171					1.3612e-06	1.90261e-06	1	1	0
ADAM12	8038	broad.mit.edu	37	10	128019079	128019079	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:128019079C>A	ENST00000368679.4	-	2	398		c.e2-1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AAGCTCACCCCTGAATCAAAA	0.443000													15	89					0.00316338	0.0035326	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208219331	208219331	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:208219331C>A	ENST00000367033.3	-	18	4144	c.3387G>T	c.(3385-3387)ttG>ttT	p.L1129F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1129	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGTAAATTAGCAAGGATTGGA	0.512000													10	109					6.40141e-05	7.91768e-05	1	1	0
MAP7	9053	broad.mit.edu	37	6	136681912	136681912	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:136681912C>A	ENST00000354570.3	-	13	2136	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	MAP7_ENST00000544465.1_Nonsense_Mutation_p.E561*|MAP7_ENST00000438100.2_Nonsense_Mutation_p.E561*|MAP7_ENST00000432797.2_Nonsense_Mutation_p.E430*|MAP7_ENST00000454590.1_Nonsense_Mutation_p.E598*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	576					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTGCTTCTTCACGAACGCGA	0.572000													52	349					8.44121e-28	1.73624e-27	1	1	0
NHEJ1	79840	broad.mit.edu	37	2	219941074	219941074	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:219941074C>A	ENST00000409720.1	-	7	918	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	NHEJ1_ENST00000356853.5_3'UTR			Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	0					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TTCTCCAAGTCCATCCTCAGC	0.488000								Non-homologous end-joining					4	60					0.014758	0.0158251	1	1	0
IP6K3	117283	broad.mit.edu	37	6	33695901	33695901	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:33695901A>C	ENST00000451316.1	-	4	911	c.376T>G	c.(376-378)Tgg>Ggg	p.W126G	IP6K3_ENST00000293756.4_Missense_Mutation_p.W126G	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	126					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCATGCGGCCACTGGGCAAGG	0.667000													7	44					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97797370	97797370	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:97797370A>G	ENST00000220763.5	+	2	455	c.245A>G	c.(244-246)aAg>aGg	p.K82R		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	82					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										AGTGGCTCCAAGAACCTAGAA	0.483000													18	75					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1293519	1293519	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:1293519G>A	ENST00000310581.5	-	2	1539	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	TERT_ENST00000296820.5_Silent_p.F494F|TERT_ENST00000334602.6_Silent_p.F494F|TERT_ENST00000508104.2_Silent_p.F494F	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	494	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAGGGAGATGAACTTCTTGG	0.662000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	30					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23404669	23404669	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:23404669C>A	ENST00000307149.5	-	15	2073		c.e15-1		COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7						intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ACTGCCCGATCTGAAACAAAA	0.473000													5	31					0.184627	0.187793	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141049581	141049581	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:141049581T>C	ENST00000239440.4	-	15	2222	c.2157A>G	c.(2155-2157)gcA>gcG	p.A719A	ARAP3_ENST00000508305.1_Silent_p.A621A|ARAP3_ENST00000513878.1_Silent_p.A381A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	719					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.A719A(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGTTTTCCGATGCAAACATTT	0.587000													9	49					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216333	111216333	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:111216333G>T	ENST00000369769.2	-	1	1322	c.1099C>A	c.(1099-1101)Cgc>Agc	p.R367S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	367						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTACCAGGCGGATGACCCTC	0.587000													14	121					4.14922e-12	7.42254e-12	1	1	0
FAT4	79633	broad.mit.edu	37	4	126411546	126411546	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:126411546G>C	ENST00000394329.3	+	17	13582	c.13569G>C	c.(13567-13569)ctG>ctC	p.L4523L	FAT4_ENST00000335110.5_Silent_p.L2764L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4523					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTTAGCCTGATCCTGTGTA	0.537000													13	44					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152695	158152695	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158152695G>T	ENST00000368171.3	+	5	1134	c.635G>T	c.(634-636)gGc>gTc	p.G212V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	212	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.G212V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGTCCCGTGGCCCCAGTCCT	0.572000													13	119					0.00136819	0.0015572	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130305378	130305378	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:130305378G>T	ENST00000358511.6	+	10	4030	c.3999G>T	c.(3997-3999)ctG>ctT	p.L1333L	COL6A6_ENST00000453409.2_Silent_p.L1333L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1333	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGTTGCTCTGGATGGACCTG	0.423000													22	164					1.96895e-08	3.06717e-08	1	1	0
VNN2	8875	broad.mit.edu	37	6	133078932	133078932	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:133078932A>T	ENST00000326499.6	-	1	215	c.91T>A	c.(91-93)Tat>Aat	p.Y31N	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Intron|VNN2_ENST00000525289.1_Missense_Mutation_p.Y31N	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	31	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GCATGTTCATACACTGCAGCT	0.433000													19	109					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33063130	33063130	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:33063130T>A	ENST00000307363.5	-	12	1305	c.1161A>T	c.(1159-1161)gcA>gcT	p.A387A	GLB1_ENST00000307377.8_Silent_p.A256A|GLB1_ENST00000445488.2_Silent_p.A435A|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000399402.3_Silent_p.A357A	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	387					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGTCCAGAGCTGCTCCCACTG	0.463000													6	24					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124783286	124783286	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:124783286A>C	ENST00000431078.1	+	1	423	c.59A>C	c.(58-60)cAt>cCt	p.H20P	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	20					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTTGTGGCATTTAGGATTA	0.502000													8	64					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495336	6495336	+	Nonsense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:6495336T>A	ENST00000264071.2	-	4	1545	c.1174A>T	c.(1174-1176)Aag>Tag	p.K392*	TUBB4A_ENST00000540257.1_Nonsense_Mutation_p.K392*			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	392					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										AAGAAGGCCTTGCGCCGGAAC	0.602000													33	190					0	0	1	0	0
ZNF575	284346	broad.mit.edu	37	19	44039424	44039424	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:44039424C>G	ENST00000458714.2	+	5	1427	c.620C>G	c.(619-621)gCc>gGc	p.A207G	ZNF575_ENST00000601282.1_Missense_Mutation_p.A108G|ZNF575_ENST00000314228.5_Missense_Mutation_p.A108G			Q86XF7	ZN575_HUMAN	zinc finger protein 575	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				AAGCTGGCAGCCCACCGCCTC	0.711000													6	19					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200955994	200955994	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:200955994A>G	ENST00000332129.2	-	26	3983	c.3667T>C	c.(3667-3669)Tac>Cac	p.Y1223H	KIF21B_ENST00000360529.5_Missense_Mutation_p.Y1223H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Y1223H|KIF21B_ENST00000422435.2_Missense_Mutation_p.Y1223H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1223					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCGGTCGTAGGACTTCCTT	0.537000													11	74					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491580	71491580	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:71491580G>T	ENST00000296755.7	+	5	2696	c.2398G>T	c.(2398-2400)Ggc>Tgc	p.G800C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	800						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGCAGCTGTCGGCACTGGAGC	0.542000													15	72					7.93312e-07	1.11515e-06	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149430453	149430453	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:149430453C>A	ENST00000255992.10	+	18	2806	c.2407C>A	c.(2407-2409)Cac>Aac	p.H803N	KRBA1_ENST00000319551.8_Missense_Mutation_p.H743N|KRBA1_ENST00000485033.2_Missense_Mutation_p.H743N|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	804										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGGAGCTGCACAGCCTCGG	0.687000													5	40					5.9392e-07	8.50177e-07	1	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237387	84237387	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:84237387G>C	ENST00000324537.5	+	7	810	c.318G>C	c.(316-318)ctG>ctC	p.L106L	SH3GL3_ENST00000427482.2_Silent_p.L98L|SH3GL3_ENST00000434347.1_Silent_p.L106L|SH3GL3_ENST00000535412.1_Silent_p.L98L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	98	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACTGTATGCTGAAATACGGGA	0.527000													9	60					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4870123	4870123	+	Splice_Site	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:4870123G>C	ENST00000252318.2	+	7	1510		c.e7-1			NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTCTTCTGCAGGTGTGGCAGT	0.488000													14	47					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626974	140626974	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140626974A>T	ENST00000231173.3	+	1	1828	c.1828A>T	c.(1828-1830)Acg>Tcg	p.T610S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		610	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAAGGCCACGGAGCCCGG	0.716000													16	52					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40269976	40269976	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:40269976C>A	ENST00000225916.5	-	8	1293	c.1240G>T	c.(1240-1242)Ggc>Tgc	p.G414C		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	414					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGTTGCTGCCCCCACCCATG	0.602000													4	39					1.23904e-05	1.602e-05	1	1	0
MC5R	4161	broad.mit.edu	37	18	13826139	13826139	+	Silent	SNP	C	C	G	rs45613135	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:13826139C>G	ENST00000324750.3	+	1	597	c.375C>G	c.(373-375)tcC>tcG	p.S125S		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	125					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCTGCATTTCCGTGGTGGCAT	0.522000													12	103					0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748661	43748661	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:43748661A>C	ENST00000523677.1	-	3	370	c.137T>G	c.(136-138)cTc>cGc	p.L46R	C1orf210_ENST00000423420.1_Missense_Mutation_p.L46R	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	46						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCAATGAGGAGCGAGAGGAC	0.667000													6	29					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237711811	237711811	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:237711811T>C	ENST00000366574.2	+	26	3304	c.2987T>C	c.(2986-2988)gTg>gCg	p.V996A	RYR2_ENST00000360064.6_Missense_Mutation_p.V994A|RYR2_ENST00000542537.1_Missense_Mutation_p.V980A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	996	4 X approximate repeats.				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)			GAAGCAATGGTGGACAAGTTG	0.483000													15	40					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34028461	34028461	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:34028461C>A	ENST00000389232.4	+	49	7520	c.7450C>A	c.(7450-7452)Caa>Aaa	p.Q2484K	RYR3_ENST00000415757.3_Missense_Mutation_p.Q2484K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2484	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGTTACAGCAACTCCTGCG	0.373000													4	24					0.150653	0.154188	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113812480	113812480	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:113812480T>A	ENST00000297405.5	-	13	2127	c.1883A>T	c.(1882-1884)gAc>gTc	p.D628V	CSMD3_ENST00000343508.3_Missense_Mutation_p.D588V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D524V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D628V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	628	CUB 3.					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						CACTATCAAGTCTGGTACAAA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	68					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456410	60456410	+	Missense_Mutation	SNP	G	G	T	rs41301090		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:60456410G>T	ENST00000371201.3	-	12	1683	c.1576C>A	c.(1576-1578)Cgc>Agc	p.R526S	C1orf87_ENST00000395552.1_Missense_Mutation_p.R160S|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.R297S	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	526							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGAATCTGCGCAAGGCCTGG	0.488000													23	252					1.66031e-10	2.8269e-10	1	1	0
TLL1	7092	broad.mit.edu	37	4	166964480	166964480	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:166964480A>T	ENST00000061240.2	+	12	2080	c.1433A>T	c.(1432-1434)tAt>tTt	p.Y478F	TLL1_ENST00000507499.1_Missense_Mutation_p.Y478F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	478	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTCCCAATTATCCTGATGAC	0.428000													33	123					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2260537	2260537	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:2260537C>A	ENST00000402746.1	-	3	374	c.177G>T	c.(175-177)tgG>tgT	p.W59C	MAD1L1_ENST00000399654.2_Intron|MAD1L1_ENST00000406869.1_Intron|MAD1L1_ENST00000265854.7_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	0			R -> C (in a prostate cancer cell line; somatic mutation; dbSNP:rs28939694).		cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGGGGCAAGGCCAGATGCAGG	0.507000													3	23					0.00024832	0.000296266	1	1	0
CASS4	57091	broad.mit.edu	37	20	55012503	55012503	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:55012503C>A	ENST00000371336.3	+	2	521	c.320C>A	c.(319-321)cCc>cAc	p.P107H	CASS4_ENST00000360314.3_Missense_Mutation_p.P107H|CASS4_ENST00000434344.1_Missense_Mutation_p.P107H	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	107					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCCCGCCCTCCCACTCCAGGC	0.647000													11	70					1.58986e-06	2.19736e-06	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54914577	54914577	+	Silent	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:54914577T>G	ENST00000545554.1	+	30	6159	c.6159T>G	c.(6157-6159)acT>acG	p.T2053T	UNC13C_ENST00000537900.1_Silent_p.T2051T|UNC13C_ENST00000260323.11_Silent_p.T2053T|UNC13C_ENST00000539562.2_5'UTR			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2053	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGACATCACTGCCACCCCAG	0.438000													12	90					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191740	18191740	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:18191740C>T	ENST00000600835.1	-	5	614	c.311G>A	c.(310-312)gGg>gAg	p.G104E	IL12RB1_ENST00000593993.1_Missense_Mutation_p.G104E|IL12RB1_ENST00000430026.2_Missense_Mutation_p.G104E|IL12RB1_ENST00000322153.6_Missense_Mutation_p.G104E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	104	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACAGACACCCCAGCCTGGTC	0.622000													11	56					0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36946279	36946279	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:36946279A>T	ENST00000373627.5	-	3	638		c.e3+1		MTCH1_ENST00000538808.1_Splice_Site|MTCH1_ENST00000373616.5_Splice_Site	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1						activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTGTGGGCTCACCTTCTTCAT	0.587000													17	66					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4705767	4705767	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:4705767G>T	ENST00000540757.2	+	6	592	c.432G>T	c.(430-432)caG>caT	p.Q144H	DYRK4_ENST00000010132.5_Missense_Mutation_p.Q144H|DYRK4_ENST00000543431.1_Missense_Mutation_p.Q144H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	144	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTCACCAGCAGGCCCTGATGG	0.522000													5	25					3.59834e-05	4.51849e-05	1	1	0
HRH3	11255	broad.mit.edu	37	20	60791200	60791200	+	Silent	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:60791200G>C	ENST00000340177.5	-	3	1484	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	HRH3_ENST00000317393.6_Silent_p.L400L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	400					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TGGCCCACAGGAGCCAGAAGG	0.622000													6	21					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52724342	52724342	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:52724342G>T	ENST00000322088.6	+	12	1532	c.1474G>T	c.(1474-1476)Gac>Tac	p.D492Y	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.D313Y|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.D437Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	492	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGTCCGGAGACCCCAACTA	0.592000			Mis		clear cell ovarian carcinoma								25	102					1.55469e-16	3.02574e-16	1	1	0
SOX30	11063	broad.mit.edu	37	5	157073663	157073663	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:157073663G>T	ENST00000265007.6	-	3	1710	c.1369C>A	c.(1369-1371)Ccc>Acc	p.P457T	SOX30_ENST00000311371.5_Missense_Mutation_p.P457T|SOX30_ENST00000519442.1_Missense_Mutation_p.P152T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	457					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAGTGATGGGATTCTGTAGG	0.363000													19	121					1.96292e-10	3.32308e-10	1	1	0
CRHBP	1393	broad.mit.edu	37	5	76251488	76251488	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:76251488G>T	ENST00000274368.4	+	4	766	c.344G>T	c.(343-345)gGt>gTt	p.G115V	CRHBP_ENST00000506501.1_Missense_Mutation_p.G115V	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	115					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GTATTTGATGGTTGGATTCTC	0.458000													4	38					0.00909568	0.00987474	1	1	0
OTUD7A	161725	broad.mit.edu	37	15	31776743	31776743	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:31776743G>T	ENST00000382902.1	-	11	1648	c.1556C>A	c.(1555-1557)tCc>tAc	p.S519Y	OTUD7A_ENST00000307050.4_Missense_Mutation_p.S512Y			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	512						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGGCCACGGAGTCGGCGCG	0.592000													6	27					2.0095e-06	2.75169e-06	1	1	0
MSH2	4436	broad.mit.edu	37	2	47693845	47693845	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:47693845G>T	ENST00000406134.1	+	10	1621	c.1559G>T	c.(1558-1560)gGa>gTa	p.G520V	MSH2_ENST00000543555.1_Missense_Mutation_p.G454V|MSH2_ENST00000233146.2_Missense_Mutation_p.G520V			P43246	MSH2_HUMAN	mutS homolog 2	520					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCACAGTTTGGATATTACTTT	0.343000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				15	67					3.27435e-08	5.04244e-08	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899946	156899946	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:156899946A>T	ENST00000311946.7	+	6	1495	c.1379A>T	c.(1378-1380)aAa>aTa	p.K460I	NIPAL4_ENST00000435489.2_Missense_Mutation_p.K441I|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	460						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GAGAAACCCAAAGTATTTATA	0.458000													5	37					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27114844	27114844	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:27114844C>G	ENST00000263182.3	+	5	832	c.464C>G	c.(463-465)gCa>gGa	p.A155G	BBOX1_ENST00000525090.1_Missense_Mutation_p.A155G|BBOX1_ENST00000529202.1_Missense_Mutation_p.A155G|BBOX1_ENST00000528583.1_Missense_Mutation_p.A155G|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	155					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCACCGGAGCATCTGACAAA	0.418000													20	81					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8603010	8603010	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:8603010C>A	ENST00000360986.4	+	3	456	c.282C>A	c.(280-282)aaC>aaA	p.N94K	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.N83K|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	94	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCAGTGCAACCCGGACCTGC	0.687000													7	32					0.0293803	0.0309453	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20482357	20482357	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:20482357G>T	ENST00000504154.1	+	6	738	c.486G>T	c.(484-486)caG>caT	p.Q162H	SLIT2_ENST00000273739.5_Missense_Mutation_p.Q162H|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q162H|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q162H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	162					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTACAACCAGATCAGCTGTA	0.453000													22	118					1.55469e-16	3.02574e-16	1	1	0
ZNF711	7552	broad.mit.edu	37	X	84526150	84526150	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:84526150G>T	ENST00000360700.4	+	10	2626	c.1740G>T	c.(1738-1740)caG>caT	p.Q580H	ZNF711_ENST00000373165.3_Missense_Mutation_p.Q534H|ZNF711_ENST00000542798.1_Missense_Mutation_p.Q376H|ZNF711_ENST00000395402.1_Missense_Mutation_p.Q542H|ZNF711_ENST00000276123.3_Missense_Mutation_p.Q534H			Q9Y462	ZN711_HUMAN	zinc finger protein 711	534					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGCCATATCAGTGTCAGTATT	0.373000													11	35					0.010729	0.0116225	1	1	0
MED12L	116931	broad.mit.edu	37	3	151129238	151129238	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:151129238G>T	ENST00000474524.1	+	39	6016	c.5978G>T	c.(5977-5979)aGt>aTt	p.S1993I	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1993	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGCCGAGTGGCTATGTT	0.537000													11	98					7.93312e-07	1.11515e-06	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647408	33647408	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:33647408C>A	ENST00000558425.1	-	2	191	c.192G>T	c.(190-192)ctG>ctT	p.L64L																								AAATCCACTCCAGTCCCTTCC	0.532000													50	298					1.83081e-24	3.74495e-24	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103400050	103400050	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:103400050C>T	ENST00000358392.2	-	46	3908	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E	COL11A1_ENST00000512756.1_Silent_p.E1069E|COL11A1_ENST00000370096.3_Silent_p.E1185E|COL11A1_ENST00000353414.4_Silent_p.E1146E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1185	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCTGGCACCCTCATCACCTT	0.473000													13	93					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24507633	24507633	+	Splice_Site	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:24507633T>A	ENST00000355123.4	-	17	2386	c.1944_splice	c.e17+1	p.K648_splice	ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Splice_Site_p.K648_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	648					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAATAACCTTAAGTAAGAG	0.333000													13	73					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360819	105360819	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:105360819T>C	ENST00000297581.2	+	2	88	c.39T>C	c.(37-39)agT>agC	p.S13S	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.S13S	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	13					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCTTCCTAAGTCTTTGGGAGA	0.458000													11	82					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130368298	130368298	+	Silent	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:130368298C>G	ENST00000358511.6	+	32	5656	c.5625C>G	c.(5623-5625)tcC>tcG	p.S1875S	COL6A6_ENST00000453409.2_Silent_p.S1875S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1875	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCGGTCAGTCCGCGGATGCCC	0.572000													7	17					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602464	13602464	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:13602464T>A	ENST00000040738.5	-	10	6195	c.6060A>T	c.(6058-6060)gaA>gaT	p.E2020D		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2020							DNA binding										TGTGAGCAACTTCACATTCTG	0.458000													6	26					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47625740	47625740	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:47625740G>T	ENST00000273857.4	-	19	2387	c.2388C>A	c.(2386-2388)gcC>gcA	p.A796A	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Silent_p.A729A|CORIN_ENST00000508498.1_Silent_p.A657A|CORIN_ENST00000505909.1_Silent_p.A759A	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	796	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGTTCATTCGGGCAGCAGGGC	0.532000													15	81					7.93312e-07	1.11515e-06	1	1	0
DNAJC17	55192	broad.mit.edu	37	15	41067249	41067249	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:41067249G>A	ENST00000220496.4	-	8	610	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	194	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCCGTAGGAGGACGTCTTTG	0.498000													13	53					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490510	30490510	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:30490510G>T	ENST00000356798.6	+	5	606	c.426G>T	c.(424-426)caG>caT	p.Q142H	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Missense_Mutation_p.Q142H|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	142					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCATGCTGCAGGGGCGCCCTG	0.557000													11	73					3.07112e-06	4.13291e-06	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158670015	158670015	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158670015A>T	ENST00000359610.2	-	1	471	c.428T>A	c.(427-429)cTg>cAg	p.L143Q		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACTTAAAGTCAGTTGGGTACA	0.468000													15	95					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496713	124496713	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:124496713T>G	ENST00000539644.1	+	6	1852	c.22T>G	c.(22-24)Tgt>Ggt	p.C8G	ZNF664_ENST00000538932.2_Missense_Mutation_p.C8G|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.C8G|ZNF664_ENST00000337815.4_Missense_Mutation_p.C8G			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTGCCCCATGTGTAGGGAATT	0.363000													14	84					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70488288	70488288	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:70488288A>T	ENST00000260128.4	+	6	973	c.256A>T	c.(256-258)Atg>Ttg	p.M86L	SULF1_ENST00000419716.3_Missense_Mutation_p.M86L|SULF1_ENST00000458141.2_Missense_Mutation_p.M86L|SULF1_ENST00000402687.4_Missense_Mutation_p.M86L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	86					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GACTACACCCATGTGCTGCCC	0.537000													13	44					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236906	55236906	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:55236906C>A	ENST00000251091.5	+	7	1722	c.1417C>A	c.(1417-1419)Ctt>Att	p.L473I	SAMD4A_ENST00000392067.3_Missense_Mutation_p.L561I|SAMD4A_ENST00000554335.1_Missense_Mutation_p.L561I|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L560I|SAMD4A_ENST00000555192.1_Missense_Mutation_p.L152I	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	561					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCGGAAAACCCTTCTAGACAT	0.443000													21	102					1.28384e-07	1.91158e-07	1	1	0
RPL7A	6130	broad.mit.edu	37	9	136217159	136217159	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:136217159C>T	ENST00000323345.6	+	5	510	c.480C>T	c.(478-480)gaC>gaT	p.D160D	RPL7A_ENST00000315731.4_Silent_p.D45D|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	160					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TTGCACACGACGTGGATCCCA	0.527000													4	32					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770832	94770832	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:94770832G>T	ENST00000341584.3	-	5	1287	c.1141C>A	c.(1141-1143)Cag>Aag	p.Q381K		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	381					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ATGAAGGGCTGGTTGAAACGC	0.537000													6	61					8.12818e-05	9.91291e-05	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222311	140222311	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140222311C>A	ENST00000531613.1	+	1	1405	c.1405C>A	c.(1405-1407)Ccg>Acg	p.P469T	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P469T|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACAACCCGCCGGGCTG	0.672000													11	102					0.0809354	0.0847051	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117228684	117228684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:117228684G>T	ENST00000355044.3	+	24	3625	c.3499G>T	c.(3499-3501)Gga>Tga	p.G1167*	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.G218*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1167						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CATTTTAGCTGGAACAATATC	0.219000													10	46					0.00621372	0.00683601	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113267542	113267542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:113267542G>T	ENST00000297405.5	-	62	10221	c.9977C>A	c.(9976-9978)tCa>tAa	p.S3326*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3286*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3157*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3256*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3326	Sushi 26.					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						TCTGGTGCTTGATCCCACTAA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	68					2.31682e-05	2.94417e-05	1	1	0
FLT3	2322	broad.mit.edu	37	13	28644627	28644627	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:28644627C>A	ENST00000380982.4	-	2	247		c.e2+1		FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTACTTTACCATGGGATAT	0.343000			"""Mis, O"""		"""AML, ALL"""								15	94					0.000566183	0.00066323	1	1	0
OXER1	165140	broad.mit.edu	37	2	42990807	42990807	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:42990807C>T	ENST00000378661.2	-	1	594	c.513G>A	c.(511-513)atG>atA	p.M171I		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	171					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						TGGTGGACAGCATGAAGAGGT	0.607000													6	24					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897516	11897516	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:11897516C>A	ENST00000346436.6	+	20	2307	c.2255C>A	c.(2254-2256)aCc>aAc	p.T752N	CLCN6_ENST00000376487.3_Missense_Mutation_p.T730N|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.T752N	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	752					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTTGTCACCCTGCTTGTC	0.582000													11	58					0.00829132	0.00910817	1	1	0
FGF23	8074	broad.mit.edu	37	12	4479626	4479626	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:4479626G>A	ENST00000237837.1	-	3	784	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	213					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTTGTCCTCGGCGCTCGGGA	0.721000													6	30					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128842778	128842778	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:128842778G>A	ENST00000296468.3	-	12	1378	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	MFSD8_ENST00000513559.1_Silent_p.A372A|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	417					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TAAGGAACTGGGCCAGATGAA	0.443000													14	73					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55895369	55895369	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:55895369C>A	ENST00000521992.1	-	8	1102	c.957G>T	c.(955-957)agG>agT	p.R319S	CES5A_ENST00000518005.1_Missense_Mutation_p.R184S|CES5A_ENST00000319165.9_Missense_Mutation_p.R290S|CES5A_ENST00000290567.9_Missense_Mutation_p.R290S|CES5A_ENST00000520435.1_Missense_Mutation_p.R260S|CES5A_ENST00000541580.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	290						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCTCAGGCACCTCAGCAGGG	0.547000													7	35					0.00307968	0.00344432	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50186268	50186268	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:50186268G>C	ENST00000335999.6	-	12	3954	c.3753C>G	c.(3751-3753)tgC>tgG	p.C1251W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1247	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTCGGGGTGGGCACATGAGAG	0.637000													4	29					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136600952	136600952	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:136600952T>A	ENST00000531224.1	-	3	305	c.53A>T	c.(52-54)cAg>cTg	p.Q18L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q18L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q18L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q18L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q18L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q18L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	18					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAACTAGACTGTGATCTAGA	0.313000													6	74					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89102387	89102387	+	RNA	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:89102387G>A	ENST00000393525.3	+	0	2861																											AGTCAAGTATGTATGCAACTT	0.368000													4	10					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756846	71756846	+	Missense_Mutation	SNP	C	C	A	rs142702552		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:71756846C>A	ENST00000318442.5	-	2	968	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGGGCCACACGGCGCTGGGC	0.617000													9	127					0.000274275	0.00032488	1	1	0
PALLD	23022	broad.mit.edu	37	4	169606711	169606711	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:169606711G>T	ENST00000335742.7	+	6	1546		c.e6+1		PALLD_ENST00000505667.1_Splice_Site|PALLD_ENST00000333488.4_Splice_Site|PALLD_ENST00000261509.6_Splice_Site|PALLD_ENST00000512127.1_Splice_Site			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein						cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTTTACAAAGGTCTGACATCT	0.403000									Pancreatic Cancer, Familial Clustering of				18	115					4.96729e-08	7.61001e-08	1	1	0
DHX8	1659	broad.mit.edu	37	17	41590792	41590792	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:41590792G>T	ENST00000262415.3	+	17	2637	c.2565G>T	c.(2563-2565)gtG>gtT	p.V855V	DHX8_ENST00000540306.1_Silent_p.V855V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	855	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACTATGTGGTGGACCCAGGAT	0.493000													16	100					4.14922e-12	7.42254e-12	1	1	0
C1orf110	339512	broad.mit.edu	37	1	162829310	162829310	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:162829310C>T	ENST00000367912.1	-	2	301	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	C1orf110_ENST00000367910.1_Missense_Mutation_p.V43M|C1orf110_ENST00000367911.2_Missense_Mutation_p.V39M			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	43										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						AGCAATTTCACATGGTAGAGG	0.488000													6	34					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152220477	152220477	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:152220477C>G	ENST00000243347.3	+	2	190	c.115C>G	c.(115-117)Cac>Gac	p.H39D		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	39	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		CGGTGTGTACCACAGAGAAGC	0.498000													5	44					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73482668	73482668	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:73482668G>T	ENST00000326291.6	+	12	1826		c.e12-1			NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1							centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTCACTATTAGGTTTTAACCA	0.348000													5	26					1.06961e-07	1.61367e-07	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5318377	5318377	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:5318377C>A	ENST00000274181.7	+	22	3680	c.3542C>A	c.(3541-3543)cCc>cAc	p.P1181H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1181	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACTTCTGCCCCATTGCAGAG	0.642000													3	18					0.115264	0.119286	1	1	0
RABEP1	9135	broad.mit.edu	37	17	5250193	5250193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:5250193G>T	ENST00000262477.6	+	6	981	c.757G>T	c.(757-759)Gag>Tag	p.E253*	RABEP1_ENST00000341923.6_Nonsense_Mutation_p.E253*|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.E253*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.E210*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.E253*	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	253					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGAAGATGCTGAGAAACTGCG	0.328000													6	36					0.00116845	0.00133498	1	1	0
SNX27	81609	broad.mit.edu	37	1	151634641	151634641	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:151634641G>T	ENST00000368843.3	+	5	921		c.e5-1		SNX27_ENST00000368838.1_Splice_Site|SNX27_ENST00000458013.2_Splice_Site	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27						cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTCCCCCAGAACTACAATG	0.413000													4	40					0.150653	0.154188	1	1	0
CDON	50937	broad.mit.edu	37	11	125889635	125889635	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:125889635T>C	ENST00000392693.3	-	4	502	c.375A>G	c.(373-375)acA>acG	p.T125T	CDON_ENST00000263577.7_Silent_p.T125T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	125	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TAACATGCTTTGTGGATGAAC	0.368000													12	87					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55104121	55104121	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:55104121G>T	ENST00000491143.2	+	1	1205	c.1173G>T	c.(1171-1173)atG>atT	p.M391I		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	391					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCGCAGGATGTGGAAGTGGC	0.627000													8	19					5.18039e-06	6.86552e-06	1	1	0
DCAF8	50717	broad.mit.edu	37	1	160209851	160209851	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:160209851C>A	ENST00000368073.3	-	4	793	c.359G>T	c.(358-360)cGc>cTc	p.R120L	DCAF8_ENST00000556710.1_Missense_Mutation_p.R274L|DCAF8_ENST00000368074.1_Missense_Mutation_p.R120L|DCAF8_ENST00000326837.2_Missense_Mutation_p.R120L|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	120						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						AGCCCGCTTGCGCTGTACACG	0.557000													8	37					0.000274275	0.00032488	1	1	0
CWC25	54883	broad.mit.edu	37	17	36971335	36971335	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:36971335C>A	ENST00000225428.4	-	3	504	c.207G>T	c.(205-207)aaG>aaT	p.K69N	CWC25_ENST00000536127.1_Missense_Mutation_p.K6N	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	69										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TCCAGTCCAACTTTTCTTCTT	0.448000													18	153					5.3912e-06	7.13853e-06	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40730872	40730872	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:40730872G>A	ENST00000373198.3	-	27	3907	c.3672C>T	c.(3670-3672)aaC>aaT	p.N1224N	PTPRT_ENST00000373201.1_Silent_p.N1192N|PTPRT_ENST00000373193.3_Silent_p.N1205N|PTPRT_ENST00000356100.2_Silent_p.N1211N|PTPRT_ENST00000373187.1_Silent_p.N1202N|PTPRT_ENST00000373184.1_Silent_p.N1212N|PTPRT_ENST00000373190.1_Silent_p.N1201N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1202	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTTATCATGGTTCCGGGGCA	0.567000													8	56					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57858581	57858581	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:57858581G>T	ENST00000228682.2	+	4	410	c.319G>T	c.(319-321)Gta>Tta	p.V107L	GLI1_ENST00000546141.1_Missense_Mutation_p.V66L|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	107					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGCTCCCTCGTAGCTTTCAT	0.597000													12	70					0.0931896	0.0974613	1	1	0
PJA2	9867	broad.mit.edu	37	5	108713993	108713993	+	Nonsense_Mutation	SNP	C	C	A	rs141872724		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:108713993C>A	ENST00000361189.2	-	4	1434	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*	PJA2_ENST00000361557.3_Nonsense_Mutation_p.G399*	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	399					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GCTGTGGCTCCACTTTCTGAT	0.403000													14	119					1.3612e-06	1.90261e-06	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77407136	77407136	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:77407136C>A	ENST00000560626.2	-	7	5078	c.4603G>T	c.(4603-4605)Ggc>Tgc	p.G1535C	PEAK1_ENST00000312493.4_Missense_Mutation_p.G1535C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1535	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGCCCAAAGCCTTGGGCAGTC	0.567000													8	57					5.18039e-06	6.86552e-06	1	1	0
ANKIB1	54467	broad.mit.edu	37	7	92015842	92015842	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:92015842G>T	ENST00000265742.3	+	12	2013	c.1637G>T	c.(1636-1638)tGg>tTg	p.W546L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	546							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GACTTTTGCTGGATTTGCCTT	0.378000													7	16					0.000274275	0.00032488	1	1	0
THBS2	7058	broad.mit.edu	37	6	169629707	169629707	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:169629707C>A	ENST00000366787.3	-	15	2468	c.2219G>T	c.(2218-2220)tGt>tTt	p.C740F	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	740					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCATCATCACAGGCATCGCC	0.537000													19	121					3.62473e-10	6.08086e-10	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497730	1497730	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:1497730T>A	ENST00000421627.2	+	2	1005	c.871T>A	c.(871-873)Tgg>Agg	p.W291R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	370					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCGCAGCTCCTGGTCTACGCT	0.647000													8	31					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31599928	31599928	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:31599928T>A	ENST00000379416.3	-	14	1466	c.1418A>T	c.(1417-1419)cAg>cTg	p.Q473L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	473					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)	CTTGGAAAGCTGCCTCTGAGT	0.468000													16	104					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175106062	175106062	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:175106062T>C	ENST00000239462.4	+	17	3646	c.3533T>C	c.(3532-3534)tTc>tCc	p.F1178S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1178	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TATGATTTCTTCCAAGTGGCC	0.488000													12	48					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130097597	130097597	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:130097597A>C	ENST00000373387.4	+	10	1210	c.858A>C	c.(856-858)aaA>aaC	p.K286N	GARNL3_ENST00000435213.2_Missense_Mutation_p.K264N|GARNL3_ENST00000314904.5_Missense_Mutation_p.K286N	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	286	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CATATTCCAAAGAGAACAAAC	0.398000													22	83					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535754	166535754	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:166535754G>T	ENST00000314499.7	+	7	1625	c.1249G>T	c.(1249-1251)Gcc>Tcc	p.A417S	CSRNP3_ENST00000409420.1_Missense_Mutation_p.A449S|CSRNP3_ENST00000342316.4_Missense_Mutation_p.A417S	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	417					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGATGGCACCGCCGTTCACGA	0.453000													21	115					3.73194e-20	7.47901e-20	1	1	0
NUF2	83540	broad.mit.edu	37	1	163310200	163310200	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:163310200A>G	ENST00000271452.3	+	9	932	c.653A>G	c.(652-654)gAg>gGg	p.E218G	NUF2_ENST00000367900.3_Missense_Mutation_p.E218G|NUF2_ENST00000524800.1_Missense_Mutation_p.E218G	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	218	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AATATTTCAGAGAAAACCAAG	0.333000													12	117					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472295	231472295	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:231472295G>A	ENST00000366645.1	-	1	1303	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S	EXOC8_ENST00000360394.2_Silent_p.S399S			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	399					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AACGATCTGGGGAGAGTTCGA	0.537000													19	88					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373847	138373847	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:138373847C>A	ENST00000409968.1	+	18	3704	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	THSD7B_ENST00000413152.2_Missense_Mutation_p.L1148M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1179M					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCCTTGCCTCCTGAATGAAAA	0.443000													29	159					2.14196e-07	3.16386e-07	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	34					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175530244	175530244	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:175530244G>T	ENST00000253490.4	+	13	736	c.679G>T	c.(679-681)Gta>Tta	p.V227L	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.V150L|FAM153B_ENST00000510151.1_Missense_Mutation_p.V150L			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	227										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GATCAGGGATGTACTTCAGGA	0.498000													18	233					4.96729e-08	7.61001e-08	1	1	0
ASPM	259266	broad.mit.edu	37	1	197059396	197059396	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:197059396A>G	ENST00000367409.4	-	24	10015	c.9759T>C	c.(9757-9759)acT>acC	p.T3253T	ASPM_ENST00000367408.1_Silent_p.T918T|ASPM_ENST00000294732.7_Silent_p.T1668T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3253					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGCAAGTGCAGTTCTTTTGT	0.343000													14	89					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129989906	129989906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:129989906G>T	ENST00000485477.1	+	4	1418	c.289G>T	c.(289-291)Gag>Tag	p.E97*	CPA5_ENST00000393213.3_Nonsense_Mutation_p.E97*|CPA5_ENST00000355388.3_Nonsense_Mutation_p.E97*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.E97*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.E97*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.E97*|CPA5_ENST00000461828.1_Nonsense_Mutation_p.E97*			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	97					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AGCTTATCTGGAGTCTCATGG	0.552000													26	142					2.27525e-19	4.53522e-19	1	1	0
ACTG2	72	broad.mit.edu	37	2	74140736	74140736	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:74140736G>T	ENST00000409624.1	+	7	1219	c.576G>T	c.(574-576)aaG>aaT	p.K192N	ACTG2_ENST00000409731.3_Missense_Mutation_p.K149N|ACTG2_ENST00000345517.3_Missense_Mutation_p.K192N			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	192					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						ACCTCATGAAGATCCTCACAG	0.532000													16	98					6.72482e-11	1.15829e-10	1	1	0
ISLR	3671	broad.mit.edu	37	15	74468090	74468090	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:74468090G>T	ENST00000249842.3	+	2	1248	c.891G>T	c.(889-891)gtG>gtT	p.V297V	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.V297V	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	297	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACCCCTGTGGCCAGCTCCC	0.637000													15	124					2.94398e-08	4.56687e-08	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138391432	138391432	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:138391432C>T	ENST00000310018.2	-	22	2742	c.2460G>A	c.(2458-2460)ggG>ggA	p.G820G	ATP6V0A4_ENST00000353492.4_Silent_p.G820G|ATP6V0A4_ENST00000393054.1_Silent_p.G820G	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	820			G -> R (in RTADR).		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGTAACCATCCCCGACATAGA	0.522000													6	72					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13059350	13059350	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:13059350C>T	ENST00000586534.1	+	4	517	c.456C>T	c.(454-456)gaC>gaT	p.D152D	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Intron|RAD23A_ENST00000316856.3_Silent_p.D152D|RAD23A_ENST00000592268.1_Silent_p.D152D			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	152					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GAGAGGAAGACGCGGCCTCCA	0.652000								Nucleotide excision repair (NER)					11	75					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484248	152484248	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152484248C>A	ENST00000334269.2	+	2	414	c.238C>A	c.(238-240)Cgc>Agc	p.R80S		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	80	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCCGACGCCGACCTCA	0.677000													17	40					1.22384e-17	2.40072e-17	1	1	0
GBP6	163351	broad.mit.edu	37	1	89844074	89844074	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:89844074T>A	ENST00000370456.4	+	5	620	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	GBP6_ENST00000535065.1_Missense_Mutation_p.F46Y	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	176							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TTCCCAGACTTTCTTTGGACA	0.458000													21	122					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151120	170151120	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:170151120T>A	ENST00000263816.3	-	5	813	c.528A>T	c.(526-528)gaA>gaT	p.E176D	LRP2_ENST00000443831.1_Missense_Mutation_p.E176D	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	176	LDL-receptor class A 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	TGCAGTTGATTTCATCTGAGG	0.443000													15	59					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183795447	183795447	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:183795447C>G	ENST00000360982.2	-	28	3705	c.2947G>C	c.(2947-2949)Gta>Cta	p.V983L	NCKAP1_ENST00000361354.3_Missense_Mutation_p.V977L|NCKAP1_ENST00000478449.1_5'UTR	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	977					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAAAGAGCTACGACCAATGCA	0.343000													9	67					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27572176	27572176	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:27572176G>T	ENST00000333743.6	+	4	745	c.491_splice	c.e4+1	p.R164_splice	GABRG3_ENST00000555083.1_Splice_Site_p.R164_splice	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	164					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R164M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TACACTTTGAGGTAAGATGCT	0.423000													3	30					0.004672	0.00515519	1	1	0
TSHR	7253	broad.mit.edu	37	14	81558909	81558909	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:81558909C>T	ENST00000541158.2	+	7	824	c.502C>T	c.(502-504)Cct>Tct	p.P168S	TSHR_ENST00000342443.6_Missense_Mutation_p.P168S|TSHR_ENST00000298171.2_Missense_Mutation_p.P168S|TSHR_ENST00000554435.1_Missense_Mutation_p.P168S|TSHR_ENST00000554263.1_Missense_Mutation_p.P168S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	168					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GACGTCAATCCCTGTGAATGC	0.408000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						6	85					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37631511	37631511	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:37631511G>T	ENST00000252011.3	+	10	885	c.852_splice	c.e10+1	p.Q284_splice	DHX35_ENST00000373325.2_Splice_Site_p.Q284_splice|DHX35_ENST00000373323.4_Splice_Site_p.Q253_splice	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	284	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTACTGGCCAGGTAATGCCAC	0.398000													10	65					1.58986e-06	2.19736e-06	1	1	0
RNF213	57674	broad.mit.edu	37	17	78319153	78319153	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:78319153G>T	ENST00000582970.1	+	29	7161	c.7018G>T	c.(7018-7020)Gtc>Ttc	p.V2340F	RNF213_ENST00000508628.2_Missense_Mutation_p.V2389F|RNF213_ENST00000336301.6_Missense_Mutation_p.V413F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACTGGGAAGGTCATCAAGAG	0.517000													17	143					3.41278e-10	5.73177e-10	1	1	0
FANCI	55215	broad.mit.edu	37	15	89833462	89833462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:89833462C>T	ENST00000310775.7	+	19	1926	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*	FANCI_ENST00000300027.8_Nonsense_Mutation_p.R614*	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	614					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGATGTTCTTCGAAGGAACTC	0.358000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	79					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025778	31025778	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:31025778C>A	ENST00000355537.3	+	3	2342	c.2195C>A	c.(2194-2196)tCt>tAt	p.S732Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCTGGGAGATCTGCCGGCGTC	0.567000													23	135					5.45024e-15	1.04159e-14	1	1	0
LHCGR	3973	broad.mit.edu	37	2	48915778	48915778	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:48915778T>C	ENST00000294954.7	-	11	1179	c.1158A>G	c.(1156-1158)acA>acG	p.T386T	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Silent_p.T359T|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Silent_p.T324T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	386					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTAACGACTTGTCAGGAGAA	0.423000													20	81					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877553	24877553	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:24877553A>T	ENST00000382554.3	+	3	995	c.677A>T	c.(676-678)cAg>cTg	p.Q226L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	226					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCCTCCCCAGCAGCAGAAG	0.602000													13	64					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052056	9052056	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:9052056G>A	ENST00000382496.5	-	20	3439	c.2774C>T	c.(2773-2775)cCc>cTc	p.P925L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	925	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGCCCATGGGGAACAGGAG	0.572000													4	28					0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43384801	43384801	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:43384801C>A	ENST00000372851.3	-	6	850	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L	RIMS4_ENST00000541604.2_Missense_Mutation_p.V263L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	262					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CAGGGCCCCACGGTGCTCTCG	0.682000													15	76					1.15088e-07	1.71878e-07	1	1	0
RFX4	5992	broad.mit.edu	37	12	107109318	107109318	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:107109318C>A	ENST00000392842.1	+	11	1548	c.1134C>A	c.(1132-1134)acC>acA	p.T378T	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.T387T|RFX4_ENST00000229387.5_Silent_p.T284T|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	378	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AACTCATCACCCAATGTAAGC	0.458000													4	76					0.000602214	0.000697722	1	1	0
DCPS	28960	broad.mit.edu	37	11	126201400	126201400	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:126201400G>T	ENST00000263579.4	+	3	806	c.477G>T	c.(475-477)agG>agT	p.R159S	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	159					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ATGACTACAGGAATATTACTT	0.572000													9	67					0.00448238	0.00498677	1	1	0
FZD10	11211	broad.mit.edu	37	12	130648338	130648338	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:130648338G>T	ENST00000229030.4	+	1	1335	c.851G>T	c.(850-852)gGc>gTc	p.G284V	FZD10_ENST00000539839.1_Silent_p.R251R			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	284					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTCTTCGCCGGCGCCGAGAGC	0.657000													16	128					3.32936e-07	4.81232e-07	1	1	0
CDH18	1016	broad.mit.edu	37	5	19483538	19483538	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:19483538G>T	ENST00000507958.1	-	14	2744	c.1754C>A	c.(1753-1755)aCc>aAc	p.T585N	CDH18_ENST00000274170.4_Missense_Mutation_p.T585N|CDH18_ENST00000502796.1_Missense_Mutation_p.P549T|CDH18_ENST00000506372.1_Missense_Mutation_p.P550T|CDH18_ENST00000382275.1_Missense_Mutation_p.T585N			Q13634	CAD18_HUMAN	cadherin 18, type 2	585	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACCCTGATGGTGAGGGTGCT	0.537000													10	40					1.76689e-08	2.75531e-08	1	1	0
VEPH1	79674	broad.mit.edu	37	3	157034922	157034922	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:157034922T>A	ENST00000362010.2	-	10	2111	c.1804A>T	c.(1804-1806)Agt>Tgt	p.S602C	VEPH1_ENST00000392832.2_Missense_Mutation_p.S602C|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.S602C|VEPH1_ENST00000543418.1_Missense_Mutation_p.S602C	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	602						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGGACTTACTGTATAGGCAG	0.398000													24	123					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94953681	94953681	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:94953681C>A	ENST00000341228.2	-	6	1999	c.1204G>T	c.(1204-1206)Gtg>Ttg	p.V402L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.V402L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	402					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AGGAAGAGCACGGAAGGTATT	0.498000													5	109					0.00116845	0.00133498	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48285610	48285610	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:48285610G>T	ENST00000435803.1	+	13	1666	c.1642G>T	c.(1642-1644)Ggt>Tgt	p.G548C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	548					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAGCTACTTGGTTCAGTAGA	0.418000													4	29					0.00909568	0.00987474	1	1	0
EDARADD	128178	broad.mit.edu	37	1	236645782	236645782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:236645782C>T	ENST00000359362.5	+	6	665	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	EDARADD_ENST00000334232.4_Nonsense_Mutation_p.Q161*	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	161	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCAGAGGCCACAGAGCCCCAC	0.562000													7	103					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606328	139606328	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:139606328G>T	ENST00000303045.6	-	63	4993	c.4547C>A	c.(4546-4548)cCc>cAc	p.P1516H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1496H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1516	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCCCCCATGGGGCCGGCCCG	0.657000										HNSCC(7;0.00092)			5	69					0.184627	0.187793	1	1	0
C1orf110	339512	broad.mit.edu	37	1	162829312	162829312	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:162829312T>A	ENST00000367912.1	-	2	299	c.125A>T	c.(124-126)cAt>cTt	p.H42L	C1orf110_ENST00000367910.1_Missense_Mutation_p.H42L|C1orf110_ENST00000367911.2_Missense_Mutation_p.H38L			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	42										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CAATTTCACATGGTAGAGGCA	0.483000													6	32					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404366	20404366	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20404366C>A	ENST00000285600.4	+	1	600	c.541C>A	c.(541-543)Ctt>Att	p.L181I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTTTGTGACCTTCCCTTGGT	0.478000													14	177					0.000308642	0.000365005	1	1	0
TESK1	7016	broad.mit.edu	37	9	35609662	35609662	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:35609662G>T	ENST00000336395.5	+	10	2054	c.1804G>T	c.(1804-1806)Ggc>Tgc	p.G602C	CD72_ENST00000396757.1_3'UTR|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	602					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTGAGGCGGGCAGTCTCCT	0.677000													7	20					5.18039e-06	6.86552e-06	1	1	0
CORO2A	7464	broad.mit.edu	37	9	100889046	100889046	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:100889046C>A	ENST00000343933.5	-	11	1488	c.1231G>T	c.(1231-1233)Gca>Tca	p.A411S	CORO2A_ENST00000375077.4_Missense_Mutation_p.A411S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	411					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTCTCTCTGCAGGCAGTGGG	0.597000													7	103					0.27861	0.281457	1	1	0
PDZD4	57595	broad.mit.edu	37	X	153070011	153070011	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:153070011G>T	ENST00000164640.4	-	8	1298	c.1107C>A	c.(1105-1107)aaC>aaA	p.N369K	PDZD4_ENST00000393758.2_Missense_Mutation_p.N294K|PDZD4_ENST00000544474.1_Missense_Mutation_p.N260K	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	369						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGTTGCCGTTCTCCAGGT	0.687000													8	30					0.0477658	0.0500612	1	1	0
OR5P2	120065	broad.mit.edu	37	11	7818310	7818310	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:7818310G>T	ENST00000329434.2	-	1	210	c.180C>A	c.(178-180)agC>agA	p.S60R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGCCAAGTGGCTCAGAAAGA	0.413000													10	70					0.00621372	0.00683601	1	1	0
QKI	9444	broad.mit.edu	37	6	163984649	163984649	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:163984649G>T	ENST00000361752.3	+	6	1383	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W	QKI_ENST00000424802.3_Missense_Mutation_p.G270W|QKI_ENST00000453779.2_Missense_Mutation_p.G278W|QKI_ENST00000392127.2_Missense_Mutation_p.G278W|QKI_ENST00000275262.7_Missense_Mutation_p.G278W|QKI_ENST00000361195.2_Missense_Mutation_p.G270W	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	278					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGTTCCTCCAGGGCCCGAAGC	0.483000													10	80					0.00829132	0.00910817	1	1	0
PIBF1	10464	broad.mit.edu	37	13	73482669	73482669	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:73482669G>T	ENST00000326291.6	+	12	1827	c.1488_splice	c.e12-1	p.V497_splice		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	497						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TCACTATTAGGTTTTAACCAA	0.348000													5	26					1.06961e-07	1.61367e-07	1	1	0
SPOCK1	6695	broad.mit.edu	37	5	136328288	136328288	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:136328288G>T	ENST00000394945.1	-	7	760	c.589_splice	c.e7-1	p.A197_splice	SPOCK1_ENST00000282223.7_Splice_Site_p.A197_splice	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	197					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCTGTGCAGGCTAGAGAAA	0.537000													8	58					0.000157383	0.000189601	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33957208	33957208	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:33957208G>T	ENST00000361328.3	+	6	1503	c.1350G>T	c.(1348-1350)atG>atT	p.M450I	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.M396I	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	450					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTGAAGAAATGGCAGAAGACT	0.587000													14	95					2.48551e-13	4.61327e-13	1	1	0
FOLR1	2348	broad.mit.edu	37	11	71907192	71907192	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:71907192G>T	ENST00000393679.1	+	5	1181	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	FOLR1_ENST00000393681.2_Missense_Mutation_p.A249S|FOLR1_ENST00000312293.4_Missense_Mutation_p.A249S|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.A249S			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	249					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTTAGCCTGGCCCTAATGCT	0.602000													11	41					6.40141e-05	7.91768e-05	1	1	0
KMO	8564	broad.mit.edu	37	1	241712173	241712173	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:241712173G>T	ENST00000366559.4	+	2	410	c.99G>T	c.(97-99)caG>caT	p.Q33H	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.Q33H|KMO_ENST00000366557.4_Missense_Mutation_p.Q33H	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	33					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GGAATTTCCAGATTGATGTAT	0.408000													7	64					7.48243e-07	1.05882e-06	1	1	0
XDH	7498	broad.mit.edu	37	2	31562386	31562386	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:31562386C>T	ENST00000379416.3	-	34	3791	c.3743G>A	c.(3742-3744)tGc>tAc	p.C1248Y		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1248					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)	CTTGTTGGGGCAGTCGCGGAG	0.612000													19	86					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338118	42338118	+	Silent	SNP	C	C	A	rs112590340	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:42338118C>A	ENST00000262418.6	-	5	389	c.234G>T	c.(232-234)gcG>gcT	p.A78A	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	78					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCAGCGCGCCGCCTCCATCC	0.622000													9	61					1.12685e-05	1.46718e-05	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72172852	72172852	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:72172852C>A	ENST00000356056.5	-	29	5918	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	MYO9A_ENST00000564571.1_Missense_Mutation_p.G1816C|MYO9A_ENST00000424560.1_Missense_Mutation_p.G1887C|MYO9A_ENST00000444904.1_Missense_Mutation_p.G1797C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1816	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGGCAACTGCCGGGCAGTTCT	0.428000													10	112					0.000442599	0.000519695	1	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	34					0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35719441	35719441	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:35719441C>A	ENST00000324675.3	-	1	191	c.143G>T	c.(142-144)gGg>gTg	p.G48V		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	48						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCAGTGCGCCCCCGAGGAGTT	0.517000													15	52					1.02788e-11	1.8147e-11	1	1	0
CD1D	912	broad.mit.edu	37	1	158153931	158153931	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158153931C>T	ENST00000368171.3	+	7	1498	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	333					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCTATCAGGGCGTCCTGTGAC	0.512000													18	116					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95378177	95378177	+	Missense_Mutation	SNP	G	G	T	rs112162638		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:95378177G>T	ENST00000287996.3	-	13	1689	c.1413C>A	c.(1411-1413)aaC>aaA	p.N471K	IPPK_ENST00000375522.1_Missense_Mutation_p.N143K|IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	471					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACATCACGGCGTTGTCTTTGG	0.453000													8	55					0.000274275	0.00032488	1	1	0
BEND7	222389	broad.mit.edu	37	10	13494596	13494596	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:13494596C>T	ENST00000341083.3	-	7	1266	c.970G>A	c.(970-972)Gta>Ata	p.V324I	BEND7_ENST00000396900.2_Missense_Mutation_p.V376I|BEND7_ENST00000378605.3_Missense_Mutation_p.V337I|BEND7_ENST00000396898.2_Missense_Mutation_p.V389I|BEND7_ENST00000486542.1_5'UTR	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	376	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AGAATCTGTACCCAATCTCTT	0.368000													23	106					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022193	120022193	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:120022193G>A	ENST00000379551.2	+	3	992	c.635G>A	c.(634-636)aGt>aAt	p.S212N	PRR16_ENST00000505123.1_Missense_Mutation_p.S165N|PRR16_ENST00000446965.1_Missense_Mutation_p.S165N|PRR16_ENST00000407149.2_Missense_Mutation_p.S235N	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	235	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACTTACACAGTGAACCTGTC	0.502000													8	61					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31318052	31318052	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:31318052T>A	ENST00000514738.1	+	11	2168	c.1738T>A	c.(1738-1740)Tcc>Acc	p.S580T	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	635	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTCCCTGCCTCCTATCTCCC	0.557000													18	75					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276223	152276223	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152276223C>A	ENST00000368799.1	-	3	11174	c.11139G>T	c.(11137-11139)caG>caT	p.Q3713H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3713	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGCTCACCTGGTAGAGGA	0.622000									Ichthyosis				61	391					1.02487e-32	2.12274e-32	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13794062	13794062	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:13794062T>A	ENST00000265104.4	-	48	8097	c.7993A>T	c.(7993-7995)Aat>Tat	p.N2665Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2665	AAA 3 (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)					CCCCACTCATTGATTATTGGC	0.323000									Kartagener syndrome				9	41					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969849	240969849	+	Translation_Start_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:240969849C>A	ENST00000402971.2	-	0	57					NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCACTCATGCCTCTGTGCTTG	0.592000													3	31					0.004672	0.00515519	1	1	0
OR8H1	219469	broad.mit.edu	37	11	56058304	56058304	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56058304G>T	ENST00000313022.2	-	1	262	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAGGTTTTAGGTGTGATGACA	0.413000													55	341					3.28156e-27	6.74037e-27	1	1	0
ATP13A5	344905	broad.mit.edu	37	3	193082012	193082012	+	Missense_Mutation	SNP	C	C	A	rs146780815	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:193082012C>A	ENST00000342358.4	-	2	238	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	41					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGTCAGCACGGATGCGACA	0.512000													21	224					2.27525e-19	4.53522e-19	1	1	0
DLK1	8788	broad.mit.edu	37	14	101200982	101200982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:101200982G>T	ENST00000341267.4	+	5	1143	c.901G>T	c.(901-903)Gag>Tag	p.E301*	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	301					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCTCCTCACCGAGGGCCAGGC	0.622000													8	81					2.52707e-12	4.58708e-12	1	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535884	90535884	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:90535884G>T	ENST00000602681.1	+	0	1788																											CCACACCTATGGCTCAGGCCG	0.567000													37	268					1.7489e-18	3.47671e-18	1	1	0
IGHV4-61	28391	broad.mit.edu	37	14	107095142	107095142	+	RNA	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:107095142A>G	ENST00000390630.2	-	0	438																											ACAGTAATACACGGCCGTGTC	0.592000													7	101					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397252	140397252	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:140397252C>A	ENST00000286349.3	+	1	372	c.181C>A	c.(181-183)Ccc>Acc	p.P61T		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	61	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCTGAGAGCCCCAACTGCCA	0.542000													20	116					1.56452e-12	2.84686e-12	1	1	0
KDR	3791	broad.mit.edu	37	4	55973987	55973987	+	Silent	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:55973987C>G	ENST00000263923.4	-	10	1624	c.1329G>C	c.(1327-1329)ctG>ctC	p.L443L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	443	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTACATGTCAGCGTTTGAG	0.512000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			16	111					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47782569	47782569	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:47782569C>A	ENST00000240333.6	-	5	566	c.445G>T	c.(445-447)Gct>Tct	p.A149S	SLC35B1_ENST00000415270.2_Missense_Mutation_p.A186S			P78383	S35B1_HUMAN	solute carrier family 35, member B1	149						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GCCACTCCAGCCACAATTAAC	0.473000													13	79					2.68362e-12	4.85342e-12	1	1	0
SV2C	22987	broad.mit.edu	37	5	75490886	75490886	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:75490886T>C	ENST00000502798.2	+	3	1165	c.723T>C	c.(721-723)taT>taC	p.Y241Y	SV2C_ENST00000322285.7_Silent_p.Y241Y	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	241					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGGTTATGGCTTCTTTC	0.408000													31	258					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133943616	133943616	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:133943616G>T	ENST00000361069.4	+	15	2878	c.2745G>T	c.(2743-2745)cgG>cgT	p.R915R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	915	Laminin EGF-like 9.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGGGCTGCCGGAGGTAGGTAG	0.657000													6	33					0.0215528	0.0228632	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238266479	238266479	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:238266479G>A	ENST00000295550.4	-	22	6970	c.6518C>T	c.(6517-6519)aCc>aTc	p.T2173I	COL6A3_ENST00000347401.3_Missense_Mutation_p.T1972I|COL6A3_ENST00000346358.4_Missense_Mutation_p.T1973I|COL6A3_ENST00000472056.1_Missense_Mutation_p.T1566I|COL6A3_ENST00000353578.4_Missense_Mutation_p.T1967I|COL6A3_ENST00000409809.1_Missense_Mutation_p.T1967I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2173	Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGGTCACCGGTTTCTCCTTT	0.542000													27	242					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86161369	86161369	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:86161369C>A	ENST00000543262.1	-	9	1317	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	ME3_ENST00000393324.3_Missense_Mutation_p.V331L|ME3_ENST00000359636.2_Missense_Mutation_p.V331L|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	331					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AAAACAAACACGTGATTGGAA	0.502000													6	41					0.00116845	0.00133498	1	1	0
OR5T1	390155	broad.mit.edu	37	11	56043637	56043637	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56043637A>G	ENST00000313033.2	+	1	609	c.523A>G	c.(523-525)Aca>Gca	p.T175A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TACAGTGGCTACATTTAGCCT	0.423000													42	246					0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43547850	43547850	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:43547850A>T	ENST00000255136.3	+	5	752	c.670A>T	c.(670-672)Agg>Tgg	p.R224W	PABPC1L_ENST00000217074.4_Missense_Mutation_p.R224W|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R224W|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R224W	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	224	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GAAGGTGATGAGGGACAACAG	0.572000													10	67					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39739859	39739859	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:39739859C>T	ENST00000167586.6	-	5	1083	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	333	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCCGGAGCTCCGAGATCTCG	0.592000													14	81					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236590748	236590748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:236590748C>T	ENST00000359362.5	+	4	401	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	EDARADD_ENST00000334232.4_Nonsense_Mutation_p.Q73*	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	73					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TATGAAAAATCAGGTAAGAAT	0.264000													8	70					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964685	176964685	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:176964685C>A	ENST00000406506.2	+	1	228	c.156C>A	c.(154-156)gcC>gcA	p.A52A	HOXD12_ENST00000404162.2_Silent_p.A52A			P35452	HXD12_HUMAN	homeobox D12	52						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGCCCTGGGCCGCCACGCCCG	0.731000													7	22					1.06961e-07	1.61367e-07	1	1	0
CUX2	23316	broad.mit.edu	37	12	111748360	111748360	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:111748360C>A	ENST00000261726.6	+	15	1928	c.1774C>A	c.(1774-1776)Cta>Ata	p.L592I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGCGAGATCCTAGCCCGGCC	0.607000													15	84					1.15088e-07	1.71878e-07	1	1	0
GBA3	57733	broad.mit.edu	37	4	22749425	22749425	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:22749425C>A	ENST00000511446.1	+	0	796				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGTGATTATCCTGAAGTTGT	0.423000													11	64					0.000673444	0.000778424	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197349060	197349060	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:197349060C>A	ENST00000418868.1	-	0	517					NR_003266.2																						CCCATCACCTCGACCATGGCA	0.582000													6	32					5.18039e-06	6.86552e-06	1	1	0
WASF3	10810	broad.mit.edu	37	13	27257051	27257051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:27257051G>T	ENST00000361042.4	+	9	1507	c.1282G>T	c.(1282-1284)Gag>Tag	p.E428*	WASF3_ENST00000335327.5_Nonsense_Mutation_p.E431*			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	431					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GAAGCGGCAAGAGCCTGCACA	0.637000													16	92					4.7546e-09	7.61455e-09	1	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184606486	184606486	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:184606486G>A	ENST00000334690.6	+	17	1894	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TRAPPC11_ENST00000512476.1_Silent_p.L170L|TRAPPC11_ENST00000357207.4_Silent_p.L564L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	564																	CTCAGAAGCTGTGGGCAGACC	0.428000													44	172					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114402056	114402056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:114402056G>T	ENST00000359785.5	-	2	249	c.114C>A	c.(112-114)taC>taA	p.Y38*	PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.Y38*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.Y38*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.Y38*|PTPN22_ENST00000460620.1_Nonsense_Mutation_p.Y38*|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	38	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCTGCCTTGTACTTGGTAG	0.368000													12	133					6.40141e-05	7.91768e-05	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681186	55681186	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:55681186G>A	ENST00000344514.1	-	1	872	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTCCTCAGGCTATAAATCA	0.343000													5	48					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72223613	72223613	+	Missense_Mutation	SNP	G	G	T	rs112094037	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:72223613G>T	ENST00000358821.3	+	2	293	c.65G>T	c.(64-66)cGc>cTc	p.R22L	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	NM_032649.5	NP_116038.4	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	22					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGCTGGAGCGCGGCATGTTC	0.557000													12	64					1.08611e-07	1.63191e-07	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7383081	7383081	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:7383081C>A	ENST00000340209.4	+	1	331	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	RBFOX1_ENST00000355637.4_Missense_Mutation_p.L27M|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.L27M|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L27M			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTTCCTGGACTGATTCAGGT	0.443000													13	92					4.3838e-07	6.31796e-07	1	1	0
ITM2B	9445	broad.mit.edu	37	13	48807510	48807510	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:48807510C>T	ENST00000378565.5	+	1	217	c.14C>T	c.(13-15)aCg>aTg	p.T5M	ITM2B_ENST00000378549.5_Missense_Mutation_p.T5M	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	5					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GTGAAGGTGACGTTCAACTCC	0.731000													2	2					0	0	1	0	0
TRAV25	28658	broad.mit.edu	37	14	22580406	22580406	+	RNA	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:22580406T>C	ENST00000390454.2	+	0	107																											GTTGGTCTTATGGATGCAATT	0.453000													15	68					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216017731	216017731	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:216017731T>A	ENST00000366943.2	-	46	9549	c.9163A>T	c.(9163-9165)Atc>Ttc	p.I3055F	USH2A_ENST00000307340.3_Missense_Mutation_p.I3055F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3055	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTACATAGATAGAATACTCA	0.433000										HNSCC(13;0.011)			23	88					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486912	36486912	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:36486912C>T	ENST00000342292.4	-	11	2560	c.2540G>A	c.(2539-2541)aGg>aAg	p.R847K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	847						integral to membrane|plasma membrane	G-protein coupled receptor activity			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)				GGCCTTTTCCCTGGAGCTGGC	0.657000													3	25					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706480	128706480	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:128706480C>A	ENST00000265068.5	-	4	813	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	KIAA1257_ENST00000511438.1_Missense_Mutation_p.V216L|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V104L|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	216										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAAGCTCCCACGTCGTCTGTG	0.433000													8	82					1.76689e-08	2.75531e-08	1	1	0
NRG1	3084	broad.mit.edu	37	8	32600255	32600255	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:32600255C>A	ENST00000520407.1	+	5	1468	c.1238C>A	c.(1237-1239)aCg>aAg	p.T413K	NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.T287K|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTCTACAGTACGTCCACTCCC	0.463000													25	192					4.7796e-09	7.63809e-09	1	1	0
KRT12	3859	broad.mit.edu	37	17	39019768	39019768	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:39019768A>T	ENST00000251643.4	-	5	1087	c.1064T>A	c.(1063-1065)cTg>cAg	p.L355Q		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	355	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CTCGATCTCCAGGTTCTGAAA	0.547000													8	59					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157527821	157527821	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:157527821C>T	ENST00000346085.5	+	20	5547	c.5546C>T	c.(5545-5547)cCc>cTc	p.P1849L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P1831L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1889L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1836L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1836					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACCTCCCCCCTTAAGCTCC	0.547000													10	88					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101514284	101514284	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:101514284G>T	ENST00000553692.1	+	0	28				MIR889_ENST00000401280.1_RNA																							TATTTATGATGATTAATATCG	0.428000													4	33					0.00909568	0.00987474	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159505662	159505662	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:159505662C>A	ENST00000334857.2	-	1	180	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ATGATAGTCACAATGATGATG	0.418000													22	203					1.50039e-11	2.63948e-11	1	1	0
ZC3H12C	85463	broad.mit.edu	37	11	110007545	110007545	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:110007545G>T	ENST00000453089.2	+	1	967	c.86G>T	c.(85-87)tGg>tTg	p.W29L	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.W61L|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.W60L			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	60							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCTGTACCTTGGTCAACAGTA	0.478000													9	45					5.68852e-11	9.84374e-11	1	1	0
PXDN	7837	broad.mit.edu	37	2	1652933	1652933	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:1652933G>T	ENST00000252804.4	-	17	2669	c.2619C>A	c.(2617-2619)gcC>gcA	p.A873A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	873					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACATGCAGCGGGCCCCGCTCC	0.642000													3	26					0.150653	0.154188	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35389884	35389884	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:35389884G>T	ENST00000378495.3	+	24	3111	c.2889G>T	c.(2887-2889)cgG>cgT	p.R963R	UNC13B_ENST00000396787.1_Silent_p.R975R|UNC13B_ENST00000378496.4_Silent_p.R963R	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	963					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCATTCGGAACCTGGATT	0.493000													14	130					9.31168e-06	1.22314e-05	1	1	0
HSPA6	3310	broad.mit.edu	37	1	161495871	161495871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:161495871C>T	ENST00000309758.4	+	1	1836	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	475					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGAGTCCCCCAGATAGAGGT	0.537000													6	62					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56535549	56535549	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:56535549C>T	ENST00000370754.5	-	9	1004	c.1005G>A	c.(1003-1005)ttG>ttA	p.L335L	DST_ENST00000370769.4_Silent_p.L157L|DST_ENST00000312431.6_Silent_p.L157L|DST_ENST00000361203.3_Silent_p.L157L|DST_ENST00000370788.2_Silent_p.L157L|DST_ENST00000421834.2_Silent_p.L157L			Q03001	DYST_HUMAN	dystonin	157					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCAGAGTAGCAATCTCTCTT	0.408000													5	22					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651263	90651263	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:90651263G>T	ENST00000282146.4	+	2	1584	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	381						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCAGCACACTGGCCCGGGACA	0.587000													4	31					0.150653	0.154188	1	1	0
HMGCS2	3158	broad.mit.edu	37	1	120299944	120299944	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:120299944G>C	ENST00000369406.3	-	5	1017	c.968C>G	c.(967-969)gCc>gGc	p.A323G	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.A281G	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	323					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GTCACTGCTGGCTGACAGGAA	0.498000													10	50					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35670180	35670180	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:35670180A>T	ENST00000440995.2	+	10	1375	c.1375A>T	c.(1375-1377)Atg>Ttg	p.M459L	SPEF2_ENST00000509059.1_Missense_Mutation_p.M459L|SPEF2_ENST00000356031.3_Missense_Mutation_p.M459L|SPEF2_ENST00000282469.6_Missense_Mutation_p.M459L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	459					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTATAAGTTGATGCATGATTG	0.318000													24	150					0	0	1	0	0
XAGE3	170626	broad.mit.edu	37	X	52896112	52896112	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:52896112G>T	ENST00000346279.3	-	2	123	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	XAGE3_ENST00000375491.3_Missense_Mutation_p.P18Q	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	18										kidney(1)|large_intestine(1)|lung(2)	4						CTCAGGAGGTGGTACACTTCT	0.403000													35	107					1.06647e-15	2.04603e-15	1	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178553074	178553074	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:178553074C>A	ENST00000251582.7	-	18	2776	c.2675G>T	c.(2674-2676)cGt>cTt	p.R892L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	892	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACAGAAGCCACGGTGTACCAT	0.657000													19	84					3.51602e-12	6.30502e-12	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18732325	18732325	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:18732325C>A	ENST00000513874.1	-	16	2588	c.2449G>T	c.(2449-2451)Gcc>Tcc	p.A817S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	817	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATGGTCACGGCTTCTTTAGTC	0.557000													14	38					1.15088e-07	1.71878e-07	1	1	0
N4BP1	9683	broad.mit.edu	37	16	48580110	48580110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:48580110C>A	ENST00000262384.3	-	6	2517	c.2281G>T	c.(2281-2283)Gga>Tga	p.G761*	N4BP1_ENST00000565423.1_Intron	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	761					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CCACTTCTTCCCAGAGGATCA	0.443000													11	78					9.70103e-10	1.60744e-09	1	1	0
ATP2A3	489	broad.mit.edu	37	17	3851119	3851119	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:3851119C>T	ENST00000309890.7	-	8	811	c.661G>A	c.(661-663)Ggt>Agt	p.G221S	ATP2A3_ENST00000397041.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G221S|ATP2A3_ENST00000352011.3_Missense_Mutation_p.G221S	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	221					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACGGCCACACCCACCGCTTTG	0.672000													3	21					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207504639	207504639	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:207504639G>T	ENST00000367064.3	+	6	1109	c.851G>T	c.(850-852)aGa>aTa	p.R284I	CD55_ENST00000367063.2_Missense_Mutation_p.R284I|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.R284I|CD55_ENST00000391920.4_Missense_Mutation_p.R284I|CD55_ENST00000367062.4_Missense_Mutation_p.R284I|CD55_ENST00000391921.4_Missense_Mutation_p.R220I|CD55_ENST00000314754.8_Missense_Mutation_p.R284I|CD55_ENST00000465534.1_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	284	Sushi 4.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CCTGAATGCAGAGGTAATCAC	0.378000													22	131					5.26018e-13	9.69049e-13	1	1	0
CIRH1A	84916	broad.mit.edu	37	16	69189844	69189844	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:69189844G>T	ENST00000563094.1	+	11	1269	c.1235G>T	c.(1234-1236)cGg>cTg	p.R412L	CIRH1A_ENST00000352319.4_Intron|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R412L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	412						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACAGTTTCTCGGTTTTTTCTC	0.398000													13	85					1.05317e-09	1.73539e-09	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847253	47847253	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:47847253G>T	ENST00000339488.4	-	3	1360	c.1327C>A	c.(1327-1329)Cac>Aac	p.H443N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	443						integral to membrane	hedgehog receptor activity										ATGAAGTGGTGCTGGTAGGGG	0.453000													17	50					1.67942e-08	2.63832e-08	1	1	0
EIF2AK2	5610	broad.mit.edu	37	2	37365665	37365665	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:37365665C>A	ENST00000233057.4	-	7	902	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.V194L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.V194L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	194					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GTGCTGGTCACTAAAGAGTTG	0.358000													10	56					0.010729	0.0116225	1	1	0
GPCPD1	56261	broad.mit.edu	37	20	5538643	5538643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:5538643C>A	ENST00000379019.4	-	19	1989	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	593	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CTTCTGTTTTCAGGATCATTG	0.343000													6	44					2.0095e-06	2.75169e-06	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416830	105416830	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:105416830G>T	ENST00000333244.5	-	7	5077	c.4958C>A	c.(4957-4959)gCc>gAc	p.A1653D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1653						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGTCTTTGGCAGTCACCGC	0.607000													31	289					2.09667e-21	4.24775e-21	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57187721	57187721	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:57187721A>G	ENST00000331162.4	-	5	1671	c.1401T>C	c.(1399-1401)tgT>tgC	p.C467C		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACATTCTTCACATGTGTAGG	0.423000													14	102					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103955	113103955	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:113103955G>T	ENST00000316851.7	+	12	1579	c.1579G>T	c.(1579-1581)Ggg>Tgg	p.G527W	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G536W|NCAM1_ENST00000533760.1_Missense_Mutation_p.G409W	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	537	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.G536W(2)|p.G527W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGCCACAGGTGGGGTGCCCAT	0.542000													3	20					0.150653	0.154188	1	1	0
ACTN3	89	broad.mit.edu	37	11	66325229	66325229	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:66325229C>A	ENST00000513398.1	+	0	1054				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GTGAGCCCAGCATGAGTGCCA	0.617000													3	20					0.004672	0.00515519	1	1	0
MANBA	4126	broad.mit.edu	37	4	103635698	103635698	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:103635698C>A	ENST00000226578.4	-	5	669	c.570G>T	c.(568-570)tgG>tgT	p.W190C	MANBA_ENST00000505239.1_Missense_Mutation_p.W133C	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	190					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.W190*(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GCCCCCAGTCCCAACTAAAGG	0.343000													11	51					2.27111e-07	3.32483e-07	1	1	0
SMR3B	10879	broad.mit.edu	37	4	71250262	71250262	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:71250262C>A	ENST00000304915.3	+	2	184	c.35C>A	c.(34-36)gCt>gAt	p.A12D	SMR3B_ENST00000504825.1_Missense_Mutation_p.A12D	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				GGCCTTTGGGCTCTTGCAGCG	0.343000													23	72					1.61788e-16	3.14458e-16	1	1	0
C17orf47	284083	broad.mit.edu	37	17	56620085	56620085	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:56620085G>T	ENST00000321691.3	-	1	1644	c.1463C>A	c.(1462-1464)cCa>cAa	p.P488Q	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	488										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAACTCCTTTGGTGGTGATGG	0.473000													44	351					3.39706e-21	6.84488e-21	1	1	0
UTRN	7402	broad.mit.edu	37	6	144783812	144783812	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:144783812A>T	ENST00000367545.3	+	22	2876	c.2876A>T	c.(2875-2877)aAt>aTt	p.N959I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	959					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCCTTGAGAATCAGAAACCT	0.308000													5	38					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41258541	41258541	+	Missense_Mutation	SNP	C	C	G	rs80357682		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:41258541C>G	ENST00000357654.3	-	4	262	c.144G>C	c.(142-144)atG>atC	p.M48I	BRCA1_ENST00000354071.3_Missense_Mutation_p.M48I|BRCA1_ENST00000493795.1_Start_Codon_SNP_p.M1I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.M48I|BRCA1_ENST00000491747.2_Missense_Mutation_p.M48I|BRCA1_ENST00000471181.2_Missense_Mutation_p.M48I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.M48I|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.M48I|BRCA1_ENST00000352993.3_Missense_Mutation_p.M48I	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	48					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAAGTTTCAGCATGCAAAATC	0.303000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	49					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315271	73315271	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:73315271C>A	ENST00000258098.6	-	3	1715	c.1475G>T	c.(1474-1476)gGg>gTg	p.G492V	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	492					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGGGGAGGCCCCCAGGATGGG	0.602000													13	99					1.61879e-10	2.76256e-10	1	1	0
KIFC1	3833	broad.mit.edu	37	6	33374037	33374037	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:33374037G>T	ENST00000428849.2	+	8	2051	c.1601G>T	c.(1600-1602)cGg>cTg	p.R534L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	534	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGAATGAACGGTCATCACGC	0.632000													27	123					8.58068e-18	1.68993e-17	1	1	0
CADPS	8618	broad.mit.edu	37	3	62860636	62860636	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:62860636C>A	ENST00000383710.4	-	1	418	c.69G>T	c.(67-69)gtG>gtT	p.V23V	CADPS_ENST00000283269.9_Silent_p.V23V|CADPS_ENST00000357948.3_Silent_p.V23V|CADPS_ENST00000490353.2_Silent_p.V23V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	23					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCGAGCCGAGCACCTCCTTGC	0.741000													3	17					6.4e-05	7.91768e-05	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862818	10862818	+	RNA	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:10862818G>A	ENST00000559480.1	+	0	114																		p.K38N(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CCTCAGTGAAGGTCTCCTGCA	0.577000													10	238					0	0	1	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496123	153496123	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:153496123A>T	ENST00000369929.4	+	5	911	c.851A>T	c.(850-852)tAc>tTc	p.Y284F		NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGGACCCTACGCCTTCTTC	0.567000													33	187					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111042	81111042	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:81111042G>T	ENST00000228644.3	+	1	352	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	67					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCTGGTCACTGCCTCATGTGG	0.647000													9	40					7.48243e-07	1.05882e-06	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685221	248685221	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248685221A>G	ENST00000343414.4	+	1	306	c.274A>G	c.(274-276)Atg>Gtg	p.M92V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGACAAAACCATGAGCTACGG	0.517000													17	131					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170055393	170055393	+	Silent	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:170055393T>G	ENST00000263816.3	-	45	8766	c.8481A>C	c.(8479-8481)acA>acC	p.T2827T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2827	LDL-receptor class A 19.			T -> P (in Ref. 3; AAB02882).	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	TATGACATTTTGTGTATCCAG	0.363000													6	41					0	0	1	0	0
MIR412	574433	broad.mit.edu	37	14	101531846	101531846	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:101531846G>T	ENST00000362142.2	+	0	63					NR_030155.1																						TACTTCACCTGGTCCACTAGC	0.607000													8	104					0.00307968	0.00344432	1	1	0
MACF1	23499	broad.mit.edu	37	1	39900304	39900304	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:39900304G>T	ENST00000564288.1	+	69	18561	c.17784_splice	c.e69+1	p.R5928_splice	MACF1_ENST00000545844.1_Splice_Site_p.R3866_splice|MACF1_ENST00000361689.2_Splice_Site_p.R3866_splice|MACF1_ENST00000317713.7_Splice_Site_p.R3866_splice|MACF1_ENST00000539005.1_Splice_Site_p.R3736_splice|MACF1_ENST00000372915.3_Splice_Site_p.R5824_splice|MACF1_ENST00000567887.1_Splice_Site_p.R5965_splice|MACF1_ENST00000289893.4_Splice_Site_p.R4368_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5925					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGAGGGTAAGGAGCA	0.413000													15	33					3.27435e-08	5.04244e-08	1	1	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709206	22709206	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:22709206G>T	ENST00000314246.8	-	0	1190																											CACCTCAGAGGGCACTGCTGG	0.512000													7	114					0.00316338	0.0035326	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25953156	25953156	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:25953156C>T	ENST00000356865.6	-	12	2653	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	848					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCGAATGGCAGACTGGAAG	0.542000													6	44					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370772	26370772	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:26370772C>T	ENST00000356386.2	+	5	844	c.656C>T	c.(655-657)tCc>tTc	p.S219F	BTN3A2_ENST00000527422.1_Missense_Mutation_p.S219F|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000508906.2_Missense_Mutation_p.S177F|BTN3A2_ENST00000396948.1_Missense_Mutation_p.S219F|BTN3A2_ENST00000377708.2_Missense_Mutation_p.S219F|BTN3A2_ENST00000396934.3_Missense_Mutation_p.S196F	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	219						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAGGGTGTATCCTGCATCATC	0.542000													15	153					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672826	62672826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:62672826G>T	ENST00000498273.1	+	3	821	c.526G>T	c.(526-528)Gaa>Taa	p.E176*		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	176										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aagtatggaagaaaccttatg	0.373000													4	9					0.00024832	0.000296266	1	1	0
ANKK1	255239	broad.mit.edu	37	11	113270743	113270743	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:113270743T>G	ENST00000303941.3	+	8	2146	c.2052T>G	c.(2050-2052)aaT>aaG	p.N684K		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	684							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ATCACGCAAATGTCCACGCCC	0.632000													9	66					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752232	247752232	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:247752232G>T	ENST00000320065.1	+	1	571	c.571G>T	c.(571-573)Gct>Tct	p.A191S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATCAAGCTGGCTTGTGTGGG	0.537000													46	142					1.06522e-23	2.17592e-23	1	1	0
ANKRD36B	57730	broad.mit.edu	37	2	98195446	98195446	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:98195446C>A	ENST00000443455.1	-	0	796							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CAATATTGTGCTGCAGAAGAA	0.358000													3	32					0.115264	0.119286	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169484669	169484669	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:169484669A>T	ENST00000256935.8	+	44	4546	c.4467_splice	c.e44+1	p.Q1489_splice	DOCK2_ENST00000540750.1_Splice_Site_p.Q550_splice|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.Q981_splice	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1489	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACATGTCGCAGGTGAGTCTG	0.567000													7	43					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145021127	145021127	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:145021127T>C	ENST00000369359.4	-	2	312	c.274A>G	c.(274-276)Acg>Gcg	p.T92A	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T21A|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.T21A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T92A|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.T21A|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.T92A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGTGACTCGTTCTGGGTACC	0.433000			T	PDGFRB	MPD								7	194					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272299	158272299	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:158272299T>A	ENST00000264192.3	-	8	1091	c.970A>T	c.(970-972)Atg>Ttg	p.M324L	CYTIP_ENST00000540637.1_Missense_Mutation_p.M218L	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	324					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTCCCAAACATGCTTGATAAG	0.512000													6	86					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228334575	228334575	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:228334575C>A	ENST00000366718.1	+	4	614	c.187C>A	c.(187-189)Cgt>Agt	p.R63S	GUK1_ENST00000366728.2_Missense_Mutation_p.R84S|GUK1_ENST00000366723.1_Missense_Mutation_p.R84S|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000312726.4_Missense_Mutation_p.R63S|GUK1_ENST00000366726.1_Missense_Mutation_p.R63S|GUK1_ENST00000366722.1_Missense_Mutation_p.R63S|GUK1_ENST00000391865.3_Missense_Mutation_p.R84S|GUK1_ENST00000366721.1_Missense_Mutation_p.R65S|GUK1_ENST00000366716.1_Missense_Mutation_p.R63S|GUK1_ENST00000366730.1_Missense_Mutation_p.R63S	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	63	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GGTGATGCAGCGTGACATAGC	0.632000													7	104					7.48243e-07	1.05882e-06	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49669670	49669670	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:49669670A>T	ENST00000561648.1	-	4	3446	c.3393T>A	c.(3391-3393)agT>agA	p.S1131R	ZNF423_ENST00000535559.1_Missense_Mutation_p.S1014R|ZNF423_ENST00000567169.1_Missense_Mutation_p.S1014R|ZNF423_ENST00000262383.2_Missense_Mutation_p.S1131R|ZNF423_ENST00000563137.2_Missense_Mutation_p.S1071R|ZNF423_ENST00000562520.1_Missense_Mutation_p.S1071R|ZNF423_ENST00000562871.1_Missense_Mutation_p.S1071R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1131					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCTTCGGCACTCTCAAACT	0.706000													6	76					0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	17997259	17997259	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:17997259C>T	ENST00000225729.3	+	2	335	c.197C>T	c.(196-198)gCg>gTg	p.A66V	DRG2_ENST00000395726.4_Missense_Mutation_p.A66V|DRG2_ENST00000583355.1_Missense_Mutation_p.A66V	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	66					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					GCCCGTGTGGCGCTGATTGGA	0.562000													7	55					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51717879	51717879	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:51717879T>A	ENST00000267012.4	-	1	69	c.8A>T	c.(7-9)gAg>gTg	p.E3V	BIN2_ENST00000604560.1_Missense_Mutation_p.E3V|BIN2_ENST00000452142.2_Missense_Mutation_p.E3V|BIN2_ENST00000544402.1_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	3						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGCCTTGCCCTCTGCCATCCT	0.706000													10	35					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30872241	30872241	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:30872241T>C	ENST00000378933.1	-	3	1718	c.1541A>G	c.(1540-1542)tAc>tGc	p.Y514C	TAB3_ENST00000288422.2_Missense_Mutation_p.Y514C|TAB3_ENST00000378932.2_Missense_Mutation_p.Y514C|TAB3_ENST00000378930.3_Missense_Mutation_p.Y514C	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	514					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACCTTGTGTGTAGGCATAGTC	0.373000													8	31					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30254751	30254751	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:30254751T>C	ENST00000359358.4	-	9	2194	c.1756A>G	c.(1756-1758)Aag>Gag	p.K586E		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	586						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTAGATGACTTGTAGGCCCCC	0.433000													22	133					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940528	113940528	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:113940528G>T	ENST00000245796.6	+	2	690	c.495G>T	c.(493-495)atG>atT	p.M165I	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.M165I	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	165					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCCCAGATGTGTGTCCTAG	0.627000													13	77					7.93312e-07	1.11515e-06	1	1	0
WDR78	79819	broad.mit.edu	37	1	67293554	67293554	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:67293554T>A	ENST00000371026.3	-	14	2108	c.2053A>T	c.(2053-2055)Att>Ttt	p.I685F	RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Intron	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	685										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTTGTGAATATGACCTTCT	0.313000													12	174					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634669	113634669	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:113634669T>C	ENST00000358160.4	+	10	1566	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	GRAMD1C_ENST00000452134.2_Silent_p.S87S|GRAMD1C_ENST00000440446.2_Silent_p.S153S|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Silent_p.S191S	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	358						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AATTTGCCAGTTCTAGAAATA	0.308000													8	53					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20515790	20515790	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:20515790A>G	ENST00000331079.6	+	15	1693	c.1476A>G	c.(1474-1476)tcA>tcG	p.S492S	PRMT3_ENST00000437750.2_Silent_p.S430S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	492							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AACCATTTTCAGTTAAAGCAG	0.378000													35	120					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75967608	75967608	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:75967608C>T	ENST00000274364.6	+	24	3165	c.2868C>T	c.(2866-2868)gaC>gaT	p.D956D	IQGAP2_ENST00000396234.3_Silent_p.D452D|IQGAP2_ENST00000502745.1_Silent_p.D452D|IQGAP2_ENST00000379730.3_Silent_p.D458D	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	956	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGTACAGGACATAGTTACTG	0.443000													6	83					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318231	48318231	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:48318231T>A	ENST00000435803.1	+	18	7464	c.7440T>A	c.(7438-7440)ggT>ggA	p.G2480G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2480					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATTAGTTGGTGCTATTTCAA	0.378000													38	176					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160275017	160275017	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:160275017C>T	ENST00000264431.4	+	22	4406	c.3987C>T	c.(3985-3987)tcC>tcT	p.S1329S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1329					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGGCGTCTTCCACAGGTTACT	0.473000													5	73					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247401	149247401	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:149247401C>T	ENST00000407073.1	+	12	4498	c.3501C>T	c.(3499-3501)ccC>ccT	p.P1167P	MBD5_ENST00000404807.1_Silent_p.P1400P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1167						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTCGGCTGCCCAAGAATCTAG	0.488000													19	91					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530449	140530449	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140530449A>T	ENST00000231136.1	+	1	611	c.611A>T	c.(610-612)cAg>cTg	p.Q204L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.Q68L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGAGGAGCAGCCCCAACTC	0.597000													10	89					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697062	109697062	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:109697062C>A	ENST00000465301.2	+	3	3463	c.3217C>A	c.(3217-3219)Cta>Ata	p.L1073I	RGAG1_ENST00000540313.1_Missense_Mutation_p.L1073I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1073										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCACACCACTAATGAGGGC	0.547000													22	105					5.26018e-13	9.69049e-13	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129070804	129070804	+	Splice_Site	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:129070804T>A	ENST00000274487.4	+	22	3617		c.e22+2		CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGACTGGGTAAGCAGACAA	0.328000													16	70					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149278032	149278032	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:149278032G>T	ENST00000255266.5	-	10	1420	c.1301C>A	c.(1300-1302)cCt>cAt	p.P434H		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	434					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAGGTGTCAGGATTTAAGAC	0.343000													8	60					1.06961e-07	1.61367e-07	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140564179	140564179	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140564179A>T	ENST00000361016.2	+	1	3200	c.2045A>T	c.(2044-2046)cAg>cTg	p.Q682L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		682					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCAGACCCAGGCCAACTCG	0.697000													19	111					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	G	T	rs143761751		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:482774G>T	ENST00000264938.3	-	7	1254	c.1245C>A	c.(1243-1245)cgC>cgA	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612000													4	29					1	1	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130840330	130840330	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:130840330T>C	ENST00000509018.1	-	11	1448	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I415V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I415V|FNIP1_ENST00000514667.1_Missense_Mutation_p.I465V|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.I415V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I415V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I415V|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.I130V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	415	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTGATCACAATGTGTCCTTTC	0.363000													21	129					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594882	179594882	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:179594882T>A	ENST00000589042.1	-	62	18469	c.18245A>T	c.(18244-18246)tAc>tTc	p.Y6082F	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y5765F|TTN_ENST00000342992.6_Missense_Mutation_p.Y4838F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5765	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCAAATGTAGGTTCCAGA	0.468000													6	31					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160721138	160721138	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:160721138A>T	ENST00000368043.3	+	5	810	c.773A>T	c.(772-774)tAc>tTc	p.Y258F	SLAMF7_ENST00000458602.2_Missense_Mutation_p.Y111F|SLAMF7_ENST00000441662.2_Missense_Mutation_p.Y127F|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.Y151F	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	258					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTTTAGAGTACATTGAAGAG	0.483000													24	166					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133055416	133055416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:133055416C>T	ENST00000425515.2	-	2	392	c.320G>A	c.(319-321)tGg>tAg	p.W107*	VNN3_ENST00000367927.5_Nonsense_Mutation_p.W107*|VNN3_ENST00000509351.1_Nonsense_Mutation_p.W107*|VNN3_ENST00000519686.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000414302.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000427187.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000392394.2_Nonsense_Mutation_p.W107*|VNN3_ENST00000207771.3_Nonsense_Mutation_p.W107*|VNN3_ENST00000450865.2_Nonsense_Mutation_p.W108*|VNN3_ENST00000417437.2_Nonsense_Mutation_p.W139*|VNN3_ENST00000392393.3_Nonsense_Mutation_p.W107*|VNN3_ENST00000275223.3_Nonsense_Mutation_p.W107*|VNN3_ENST00000423615.2_Nonsense_Mutation_p.W107*					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ACATGGAATCCAGTTCACTCC	0.398000													11	64					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120759150	120759150	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:120759150C>A	ENST00000378164.2	-	23	3201	c.2903G>T	c.(2902-2904)cGg>cTg	p.R968L	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	968					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCACCACACCGTAACCTCCA	0.403000													12	61					0.00136819	0.0015572	1	1	0
MTRR	4552	broad.mit.edu	37	5	7892985	7892985	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:7892985C>A	ENST00000264668.2	+	11	1627	c.1597C>A	c.(1597-1599)Cat>Aat	p.H533N	MTRR_ENST00000440940.2_Missense_Mutation_p.H506N	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	533	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GCCAAACATACATGCATCCCA	0.453000													12	74					0.000978159	0.00112538	1	1	0
SEPT7P2	641977	broad.mit.edu	37	7	45797685	45797685	+	RNA	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:45797685T>G	ENST00000429741.1	-	0	487																											CAGTGCACCCTGTTACCAGGC	0.393000													6	28					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368436	18368436	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:18368436A>T	ENST00000392413.3	-	4	3873	c.3658T>A	c.(3658-3660)Tgc>Agc	p.C1220S	KIAA1683_ENST00000600359.2_Missense_Mutation_p.C987S|KIAA1683_ENST00000600328.2_Missense_Mutation_p.C1033S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GACTGGAAGCAGCGATGGTCA	0.667000													5	33					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109767304	109767304	+	Silent	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:109767304A>T	ENST00000399132.1	-	28	2036	c.1506T>A	c.(1504-1506)ccT>ccA	p.P502P	COL25A1_ENST00000399127.1_Silent_p.P475P|COL25A1_ENST00000399126.1_Silent_p.P502P	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	502	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCGGTAATCCAGGAAGTCCAA	0.343000													13	78					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072770	34072770	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:34072770C>T	ENST00000254466.6	-	6	1773	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	GAS2L2_ENST00000587565.1_Silent_p.E566E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	582					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCCCTCCTGCTCCTGTAGGC	0.597000													8	65					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269178	34269178	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:34269178C>A	ENST00000346562.2	+	11	1643	c.1569C>A	c.(1567-1569)atC>atA	p.I523I	NPAS3_ENST00000356141.4_Silent_p.I555I|NPAS3_ENST00000548645.1_Silent_p.I525I|NPAS3_ENST00000357798.5_Silent_p.I542I|NPAS3_ENST00000551492.1_Silent_p.I560I	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGATGCAGATCAAGGTGGAGC	0.662000													4	35					0.00024832	0.000296266	1	1	0
OR13D1	286365	broad.mit.edu	37	9	107457248	107457248	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:107457248C>G	ENST00000318763.5	+	1	589	c.546C>G	c.(544-546)atC>atG	p.I182M		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GGTCCTGGATCATAGGCTGTC	0.463000													8	141					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3565567	3565567	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:3565567G>T	ENST00000571025.1	+	6	605	c.555G>T	c.(553-555)atG>atT	p.M185I	CLUAP1_ENST00000576634.1_Missense_Mutation_p.M185I|CLUAP1_ENST00000341633.5_Missense_Mutation_p.M185I|CLUAP1_ENST00000572600.1_Missense_Mutation_p.M19I|CLUAP1_ENST00000417763.2_Missense_Mutation_p.M19I			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	185						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AAAAAGTGATGAGAATTGCAA	0.328000													7	61					8.12818e-05	9.91291e-05	1	1	0
YIPF1	54432	broad.mit.edu	37	1	54332053	54332053	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:54332053T>A	ENST00000072644.1	-	9	987	c.651A>T	c.(649-651)atA>atT	p.I217I	YIPF1_ENST00000539954.1_Silent_p.I242I|YIPF1_ENST00000371399.1_Silent_p.I34I|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	217						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TAATCCACAGTATCTGAAAGA	0.488000													6	49					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685890	248685890	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248685890A>G	ENST00000343414.4	+	1	975	c.943A>G	c.(943-945)Aag>Gag	p.K315E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAAAGCCACAAGGACTAGGA	0.488000													10	53					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777655	152777655	+	Silent	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152777655C>G	ENST00000368768.1	-	2	350	c.300G>C	c.(298-300)tcG>tcC	p.S100S	LCE1C_ENST00000607093.1_Silent_p.S100S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	100	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGAGCCCCCCGAGGGCTGGC	0.672000													10	76					0	0	1	0	0
NPIPB7	440350	broad.mit.edu	37	16	28468325	28468325	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:28468325T>C	ENST00000452313.1	-	7	773	c.665A>G	c.(664-666)cAt>cGt	p.H222R																								AGAATGACAATGCTCCGCTGC	0.483000													16	87					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28476541	28476541	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:28476541G>A	ENST00000373857.3	-	2	1626	c.992C>T	c.(991-993)cCa>cTa	p.P331L	PTAFR_ENST00000305392.3_Missense_Mutation_p.P331L|PTAFR_ENST00000539896.1_Missense_Mutation_p.P331L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	331					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTTGAATGGCACAACCAC	0.527000													21	84					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665761	20665761	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:20665761G>T	ENST00000357366.3	+	1	267	c.267G>T	c.(265-267)tgG>tgT	p.W89C		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTGCACTGGGATCAGAGAC	0.547000													14	106					2.62699e-14	4.99464e-14	1	1	0
SSTR2	6752	broad.mit.edu	37	17	71166526	71166526	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:71166526C>A	ENST00000357585.2	+	2	1437	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Intron	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	356					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CCACGGAGACCCAGAGGACCC	0.562000													8	69					2.17888e-05	2.77601e-05	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143028323	143028323	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:143028323A>T	ENST00000343257.2	+	9	1066		c.e9-1			NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCCATCCTACAGTCACCATCA	0.483000													16	94					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440079	124440079	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:124440079G>T	ENST00000284287.3	+	1	187	c.115G>T	c.(115-117)Gac>Tac	p.D39Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAAGAGAGCAGACCTCCAGCT	0.527000													16	84					2.23348e-06	3.04435e-06	1	1	0
IL16	3603	broad.mit.edu	37	15	81592487	81592487	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:81592487G>T	ENST00000394660.2	+	14	3180	c.2820G>T	c.(2818-2820)ccG>ccT	p.P940P	IL16_ENST00000394652.2_Silent_p.P239P|IL16_ENST00000302987.4_Silent_p.P940P	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	940					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCCGGACCCGCTCCTAAGGC	0.652000													9	49					7.48243e-07	1.05882e-06	1	1	0
RNF10	9921	broad.mit.edu	37	12	121000748	121000748	+	Splice_Site	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:121000748A>G	ENST00000325954.4	+	8	1590	c.1128_splice	c.e8-1	p.T377_splice	RNF10_ENST00000413266.2_Splice_Site_p.T377_splice	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	377					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCACGTTAGACTCGGGAAGA	0.542000													10	63					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113442939	113442939	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:113442939G>A	ENST00000392583.2	+	7	1587	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.K460K	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	460	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAAGTGGAAGGCTCCCAGGG	0.512000													10	55					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120308	64120308	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:64120308G>T	ENST00000356786.5	+	20	3493	c.3449G>T	c.(3448-3450)cGg>cTg	p.R1150L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R302L|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1150					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GATGGGCATCGGCAGCGGGGC	0.687000													4	19					0.150653	0.154188	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129290685	129290685	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:129290685C>A	ENST00000393239.1	-	16	3258	c.3080G>T	c.(3079-3081)cGc>cTc	p.R1027L	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1027L			Q9Y4D7	PLXD1_HUMAN	plexin D1	1027	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTATCTGTGCGCCTGGGGGG	0.677000													3	14					0.115264	0.119286	1	1	0
FTSJ3	117246	broad.mit.edu	37	17	61904229	61904229	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:61904229G>T	ENST00000427159.2	-	2	679	c.34C>A	c.(34-36)Cga>Aga	p.R12R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	12					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AACTTGTCTCGTCGGCTCTTG	0.567000													21	63					5.35356e-11	9.28576e-11	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158549267	158549267	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158549267G>T	ENST00000368150.1	-	1	422	c.423C>A	c.(421-423)gcC>gcA	p.A141A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGTTACAGATGGCCAGGAAGC	0.453000													6	81					3.59834e-05	4.51849e-05	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194081387	194081387	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:194081387G>T	ENST00000347624.3	-	2	471	c.386C>A	c.(385-387)tCt>tAt	p.S129Y	LRRC15_ENST00000439944.2_Missense_Mutation_p.S135Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.S135Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	129						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGAAGGAGAGACTCGAGGCT	0.607000													7	78					0.0293803	0.0309453	1	1	0
CRIP3	401262	broad.mit.edu	37	6	43273595	43273595	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:43273595A>G	ENST00000372569.3	-	8	576	c.572T>C	c.(571-573)gTg>gCg	p.V191A	CRIP3_ENST00000274990.4_3'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	72						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTAGCAGCCCACATCGCCAAT	0.542000													9	54					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100585731	100585731	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:100585731G>T	ENST00000471714.1	-	10	1110	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P334H|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P334H			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	334						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCTGTTGTGGGTCGTGCTGA	0.363000													7	43					0.27861	0.281457	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862647	5862647	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:5862647G>T	ENST00000329322.5	-	1	480	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L165M	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAACACCAGTGGAATGACC	0.498000													23	122					1.87028e-06	2.58252e-06	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720216	140720216	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140720216C>A	ENST00000394576.2	+	1	1678	c.1678C>A	c.(1678-1680)Ccc>Acc	p.P560T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAACGCGCCCGAGATCCT	0.622000													26	181					4.59853e-10	7.67975e-10	1	1	0
TDGF1P3	6998	broad.mit.edu	37	X	109764342	109764342	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:109764342C>A	ENST00000602699.1	+	0	803					NR_002718.2																						TCTTTTCCCCCTAATTGTTAA	0.408000													17	91					2.35005e-26	4.82037e-26	1	1	0
CYLC2	1539	broad.mit.edu	37	9	105766997	105766997	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:105766997A>T	ENST00000374798.3	+	4	271	c.201A>T	c.(199-201)ttA>ttT	p.L67F	CYLC2_ENST00000487798.1_Missense_Mutation_p.L67F	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	67	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAACAATTAAGAGGAGATC	0.338000													9	39					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147246	77147246	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:77147246C>A	ENST00000461745.1	+	2	1043	c.143C>A	c.(142-144)aCg>aAg	p.T48K	ROBO2_ENST00000332191.8_Missense_Mutation_p.T48K|ROBO2_ENST00000487694.3_Missense_Mutation_p.T64K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	48	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T48K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCGAGCCCACGACTCTGAAC	0.592000													5	27					0.0215528	0.0228632	1	1	0
SLC23A2	9962	broad.mit.edu	37	20	4855259	4855259	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:4855259C>G	ENST00000379333.1	-	10	1300	c.908G>C	c.(907-909)tGg>tCg	p.W303S	SLC23A2_ENST00000338244.1_Missense_Mutation_p.W303S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.W189S|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	303					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTACGCAGTCCATCCTTTCTT	0.378000													19	172					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201520	71201520	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:71201520C>T	ENST00000273936.4	+	1	823	c.764C>T	c.(763-765)gCt>gTt	p.A255V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	255						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGTGCTGTGGCTACATTAACT	0.388000													7	109					0	0	1	0	0
ICOS	29851	broad.mit.edu	37	2	204820589	204820589	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:204820589T>C	ENST00000316386.6	+	2	356	c.289T>C	c.(289-291)Tac>Cac	p.Y97H	ICOS_ENST00000435193.1_Missense_Mutation_p.Y97H	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	97	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TTTTTTTCTATACAACTTGGA	0.368000													21	74					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76198730	76198730	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:76198730G>T	ENST00000298832.9	+	13	1297	c.1092G>T	c.(1090-1092)ttG>ttT	p.L364F	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.L364F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	364	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGCCATGGTTGTTGGAAGTGA	0.363000													15	67					2.48551e-13	4.61327e-13	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34049273	34049273	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:34049273C>A	ENST00000373381.4	-	47	7385	c.7209G>T	c.(7207-7209)gaG>gaT	p.E2403D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2405	CUB 14.					integral to membrane|plasma membrane	protein binding	p.E2405E(1)		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)				CATATTGCTTCTCGCTGAGGA	0.502000													31	137					1.80694e-10	3.06953e-10	1	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1706025	1706025	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:1706025A>G	ENST00000397412.3	+	10	1366	c.1267A>G	c.(1267-1269)Aca>Gca	p.T423A	LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.T420A|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.T423A|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	423						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGCCTTCTGCACAGTGCACTG	0.657000													7	24					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103932	184103932	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:184103932G>T	ENST00000204604.1	+	15	2163	c.1917G>T	c.(1915-1917)ggG>ggT	p.G639G	CHRD_ENST00000545352.1_Silent_p.G269G|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.G639G|CHRD_ENST00000348986.3_Silent_p.G599G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	639	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCCAGAGGGGAGCTCCGAG	0.642000													8	52					5.18039e-06	6.86552e-06	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42530251	42530251	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:42530251G>T	ENST00000282030.5	+	4	1242	c.946G>T	c.(946-948)Gat>Tat	p.D316Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	316						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCCCTTGGTGGATCAAGATGG	0.547000									Schinzel-Giedion syndrome				9	92					1.08611e-07	1.63191e-07	1	1	0
REXO2	25996	broad.mit.edu	37	11	114316770	114316770	+	Missense_Mutation	SNP	A	A	G	rs144984096		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:114316770A>G	ENST00000265881.5	+	5	634	c.491A>G	c.(490-492)tAt>tGt	p.Y164C	REXO2_ENST00000539275.1_Intron|REXO2_ENST00000538791.1_Missense_Mutation_p.Y74C|REXO2_ENST00000539754.1_Missense_Mutation_p.Y149C	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	164	Exonuclease.				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CATCTTCATTATAGAATAATT	0.333000													32	168					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175052939	175052939	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:175052939G>T	ENST00000239462.4	+	5	1215	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	368	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAACTCCCTTGACGTGGAGTG	0.567000													10	59					3.07112e-06	4.13291e-06	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76255427	76255427	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:76255427A>G	ENST00000529032.1	+	18	2834	c.2834A>G	c.(2833-2835)cAg>cGg	p.Q945R	C11orf30_ENST00000524490.1_Missense_Mutation_p.Q847R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q945R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q945R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q946R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q854R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q960R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q946R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	945	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCCCTGACTCAGTCACAGTCA	0.512000													9	92					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40036947	40036947	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:40036947G>T	ENST00000336649.4	+	8	816	c.816G>T	c.(814-816)tcG>tcT	p.S272S	CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S|CACNA1I_ENST00000402142.3_Silent_p.S272S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	272					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTCCCTGTCGGGCGACAATG	0.612000													5	23					1.23904e-05	1.602e-05	1	1	0
VAT1L	57687	broad.mit.edu	37	16	77918547	77918547	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:77918547G>A	ENST00000302536.2	+	7	1078	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	309							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCTGTATGAGGAGAACAAAGT	0.502000													7	29					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850212	38850212	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:38850212G>A	ENST00000409235.3	+	14	1714	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	CATSPERG_ENST00000410018.1_Silent_p.E493E|CATSPERG_ENST00000215069.4_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	533					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTGTCACAGAGACGGAGGAGG	0.592000													4	23					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196254836	196254836	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:196254836G>A	ENST00000367433.5	-	22	2677	c.2576C>T	c.(2575-2577)gCt>gTt	p.A859V	KCNT2_ENST00000294725.8_Missense_Mutation_p.A883V|KCNT2_ENST00000367431.4_Missense_Mutation_p.A809V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	883						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCTCCCAGCAGCAAAAGGCAG	0.368000													10	46					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029452	68029452	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:68029452C>A	ENST00000304271.6	-	4	1413	c.1011G>T	c.(1009-1011)ggG>ggT	p.G337G	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	337						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						ATGTGCCTGGCCCAGCGGCCC	0.627000													10	41					4.68919e-08	7.19883e-08	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140401611	140401611	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:140401611C>G	ENST00000286349.3	+	2	840	c.649C>G	c.(649-651)Cgc>Ggc	p.R217G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	217						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTCACCAAGCGCTACATGCA	0.617000													18	82					0	0	1	0	0
INSM2	84684	broad.mit.edu	37	14	36004579	36004579	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:36004579G>A	ENST00000307169.3	+	1	1332	c.1121G>A	c.(1120-1122)gGg>gAg	p.G374E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GACAGCTCCGGGGCGGATCAG	0.682000													9	74					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730107	140730107	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140730107G>A	ENST00000523390.1	+	1	280	c.280G>A	c.(280-282)Gga>Aga	p.G94R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATTTGCGGAAGGAAACT	0.423000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	54					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74765851	74765851	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:74765851G>T	ENST00000588460.1	+	10	2814	c.772G>T	c.(772-774)Ggt>Tgt	p.G258C	MFSD11_ENST00000593181.1_Missense_Mutation_p.G206C|MFSD11_ENST00000355954.3_Missense_Mutation_p.G206C|MFSD11_ENST00000336509.4_Missense_Mutation_p.G258C|MFSD11_ENST00000586622.1_Missense_Mutation_p.G258C|MFSD11_ENST00000590514.1_Missense_Mutation_p.G258C	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	258						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTCTTCTCTGGTGTATATGG	0.328000													32	112					1.80694e-10	3.06953e-10	1	1	0
LATS2	26524	broad.mit.edu	37	13	21565414	21565414	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:21565414G>A	ENST00000382592.4	-	3	877	c.472C>T	c.(472-474)Cca>Tca	p.P158S	LATS2_ENST00000542899.1_Missense_Mutation_p.P158S|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	158					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGCTCACCTGGGGAGGTCTGC	0.592000													10	75					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116443771	116443771	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:116443771C>A	ENST00000281928.3	-	13	2578	c.2372G>T	c.(2371-2373)aGa>aTa	p.R791I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	791					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAGCCAGCTCTGCCAGCAGC	0.493000													17	74					1.99824e-07	2.95452e-07	1	1	0
POTEC	388468	broad.mit.edu	37	18	14542946	14542946	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:14542946T>A	ENST00000358970.5	-	1	199	c.200A>T	c.(199-201)cAc>cTc	p.H67L	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	67										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGGGAAGCAGTGGTGGCAACA	0.572000													33	392					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114113009	114113009	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:114113009G>C	ENST00000335953.4	+	5	1954	c.1574G>C	c.(1573-1575)cGc>cCc	p.R525P	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R525P|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	525					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAGTGCAACCGCACCTTCCCC	0.632000													4	32					0	0	1	0	0
ANXA2R	389289	broad.mit.edu	37	5	43039635	43039635	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:43039635C>A	ENST00000314890.3	-	2	1933	c.514G>T	c.(514-516)Gtt>Ttt	p.V172F		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	172							receptor activity										GCAAAACCAACGCGAAGAATC	0.587000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	77					1.12685e-05	1.46718e-05	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25458603	25458603	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:25458603T>A	ENST00000264709.3	-	22	2907	c.2570A>T	c.(2569-2571)gAc>gTc	p.D857V	DNMT3A_ENST00000321117.5_Missense_Mutation_p.D857V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.D668V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D634V|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	857					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATAAGATGTCCTCTTTCTC	0.498000			"""Mis, F, N, S"""		AML								18	67					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226175989	226175989	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:226175989C>A	ENST00000272091.7	-	6	760	c.742G>T	c.(742-744)Gct>Tct	p.A248S	SDE2_ENST00000366817.1_Missense_Mutation_p.A153S	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		ATTTTTGGAGCATGGAAACCC	0.493000													18	238					8.00594e-06	1.05442e-05	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125671702	125671702	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:125671702G>T	ENST00000431078.1	+	24	4122	c.3758G>T	c.(3757-3759)tGt>tTt	p.C1253F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1253					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATCATCTTCTGTATCATCGGC	0.473000													24	157					3.08376e-08	4.7787e-08	1	1	0
PSCA	8000	broad.mit.edu	37	8	143763462	143763462	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:143763462G>T	ENST00000301258.4	+	3	340	c.257G>T	c.(256-258)aGc>aTc	p.S86I		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	86										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCAACGCCAGCGGGGCCCAT	0.637000													6	20					2.0095e-06	2.75169e-06	1	1	0
PRTG	283659	broad.mit.edu	37	15	56032796	56032796	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:56032796G>T	ENST00000389286.4	-	2	228	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	PRTG_ENST00000561292.1_Missense_Mutation_p.Q61K	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	61	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CCGTGAGCCTGGCAATCTAAA	0.398000													24	180					3.5997e-14	6.80045e-14	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33495266	33495266	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:33495266C>G	ENST00000268876.5	+	10	1435	c.1338C>G	c.(1336-1338)atC>atG	p.I446M	UNC45B_ENST00000394570.2_Missense_Mutation_p.I446M|UNC45B_ENST00000378449.1_Missense_Mutation_p.I446M|UNC45B_ENST00000433649.1_Missense_Mutation_p.I446M|UNC45B_ENST00000591048.1_Missense_Mutation_p.I446M	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	446					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGCCCTCATCCATGCCTCCA	0.552000													14	53					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865906	139865906	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:139865906G>A	ENST00000370532.2	-	1	817	c.626C>T	c.(625-627)tCc>tTc	p.S209F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	209										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACATCTTCCGGAAAAAATCCA	0.443000													38	193					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113771153	113771153	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr13:113771153G>A	ENST00000375581.3	+	7	680	c.645G>A	c.(643-645)ggG>ggA	p.G215G	F7_ENST00000346342.3_Silent_p.G193G|F7_ENST00000541084.1_Silent_p.G146G	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	215	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GAATTGTGGGGGGCAAGGTGT	0.473000													13	68					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835790	12835790	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:12835790G>T	ENST00000357726.4	+	2	419	c.392G>T	c.(391-393)cGa>cTa	p.R131L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	131										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAAGAGACGAACAGCAGGG	0.542000													26	133					2.41591e-17	4.73289e-17	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168104966	168104966	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:168104966C>G	ENST00000409195.1	+	9	7153	c.7064C>G	c.(7063-7065)tCt>tGt	p.S2355C	XIRP2_ENST00000409273.1_Missense_Mutation_p.S2133C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2355C|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2180					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						GATGAGAAATCTGAAAGAGAA	0.478000													24	156					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701632	16701632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:16701632C>A	ENST00000513610.1	-	25	3326	c.2872G>T	c.(2872-2874)Gag>Tag	p.E958*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.E297*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.E315*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.E297*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.E315*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	958					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGACCGCTCGATATTCCGG	0.612000													6	39					8.12818e-05	9.91291e-05	1	1	0
ASTN1	460	broad.mit.edu	37	1	177001594	177001594	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:177001594G>T	ENST00000367654.2	-	3	876	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.P288Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.P288Q|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.P288Q			O14525	ASTN1_HUMAN	astrotactin 1	288					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCCCCACCTGGTGTGAGGTC	0.592000													16	108					0.00074312	0.000858292	1	1	0
NCR1	9437	broad.mit.edu	37	19	55420614	55420614	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:55420614C>A	ENST00000594765.1	+	4	391	c.366C>A	c.(364-366)gaC>gaA	p.D122E	NCR1_ENST00000338835.5_Missense_Mutation_p.D122E|NCR1_ENST00000357397.5_Missense_Mutation_p.D15E|NCR1_ENST00000598576.1_Missense_Mutation_p.D110E|NCR1_ENST00000291890.4_Missense_Mutation_p.D122E|NCR1_ENST00000447255.1_Missense_Mutation_p.D122E|NCR1_ENST00000350790.5_Missense_Mutation_p.D27E			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	122					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AAATGTATGACACACCCACCC	0.483000													6	41					0.0215528	0.0228632	1	1	0
TG	7038	broad.mit.edu	37	8	133913597	133913597	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:133913597G>T	ENST00000220616.4	+	16	3473		c.e16-1		TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCTGTGTCAGGCCCAAGCCT	0.627000													16	75					2.32078e-09	3.76969e-09	1	1	0
SELP	6403	broad.mit.edu	37	1	169572428	169572428	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:169572428A>C	ENST00000263686.6	-	10	1578	c.1541T>G	c.(1540-1542)cTa>cGa	p.L514R	SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.L452R|SELP_ENST00000367794.2_Missense_Mutation_p.L452R|SELP_ENST00000367791.2_Missense_Mutation_p.L390R|SELP_ENST00000367786.2_Missense_Mutation_p.L452R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.L452R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	514	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTGAGGGCTTAGCAAAGGTGT	0.423000													10	144					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42177128	42177128	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:42177128G>C	ENST00000520810.1	+	15	1728	c.1542G>C	c.(1540-1542)tgG>tgC	p.W514C	IKBKB_ENST00000379708.3_Missense_Mutation_p.W291C|IKBKB_ENST00000522785.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.W512C|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.W455C	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	514					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGCTGGCCTGGAGGGAAATGG	0.428000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	36					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27459864	27459864	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:27459864G>T	ENST00000337929.3	+	9	1350	c.877G>T	c.(877-879)Ggt>Tgt	p.G293C	IL21R_ENST00000564089.1_Missense_Mutation_p.G293C|IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.G293C|IL21R_ENST00000395755.1_Missense_Mutation_p.G293C	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	293					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAAATGGGTGGGTGCACCCTT	0.542000			T	BCL6	NHL								4	27					0.000602214	0.000697722	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813842	106813842	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:106813842C>T	ENST00000407775.2	+	8	1782	c.1532C>T	c.(1531-1533)cCt>cTt	p.P511L	ZFPM2_ENST00000520492.1_Missense_Mutation_p.P379L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P242L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P379L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	511					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCATGGTCCCTCAAGCTTCA	0.498000													31	166					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100626	8100626	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:8100626C>G	ENST00000379328.3	+	3	1168	c.600C>G	c.(598-600)caC>caG	p.H200Q	GATA3_ENST00000346208.3_Missense_Mutation_p.H200Q|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	200					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGTCGTCCCACTCCCGTGGCA	0.677000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						12	90					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76886496	76886496	+	Nonsense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:76886496A>T	ENST00000409709.3	+	18	2445	c.2173A>T	c.(2173-2175)Aag>Tag	p.K725*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.K725*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.K725*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.K714*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	725	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGCAAAACCAAGATCTTTCT	0.622000													14	125					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847781	95847781	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:95847781G>T	ENST00000398107.2	+	4	1604	c.1082G>T	c.(1081-1083)tGt>tTt	p.C361F	ZNF2_ENST00000425369.1_Missense_Mutation_p.C323F|ZNF2_ENST00000295210.6_Missense_Mutation_p.C365F|ZNF2_ENST00000453539.2_Missense_Mutation_p.C416F|ZNF2_ENST00000340539.5_Missense_Mutation_p.C403F	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGCACTGTGTGTGGGAAAGTT	0.507000													13	103					0.00010058	0.000121664	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885054	88885054	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:88885054G>T	ENST00000319675.3	-	1	1242	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	382										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGACAGCCATGAGCAGCCCTG	0.552000													5	63					0.184627	0.187793	1	1	0
DSEL	92126	broad.mit.edu	37	18	65180485	65180485	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:65180485T>C	ENST00000310045.7	-	2	2864	c.1391A>G	c.(1390-1392)tAt>tGt	p.Y464C	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	454						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AATCCAGGAATATGGCTGAAA	0.453000													15	95					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286189	152286189	+	Silent	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152286189T>C	ENST00000368799.1	-	3	1208	c.1173A>G	c.(1171-1173)tcA>tcG	p.S391S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	391	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCTGCTGACTGCTGGT	0.587000									Ichthyosis				89	582					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003539	228003539	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:228003539A>C	ENST00000366757.3	+	1	146	c.122A>C	c.(121-123)cAg>cCg	p.Q41P		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	41					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGAGAACCAGGGAATCTCC	0.692000													4	18					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231578	141231578	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:141231578C>A	ENST00000389328.4	-	17	2844	c.2830G>T	c.(2830-2832)Ggc>Tgc	p.G944C	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G837C|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.G846C	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	846					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTGTAGTCGCCTGCTTTGTTG	0.582000													7	86					0.00198382	0.00224067	1	1	0
AQP10	89872	broad.mit.edu	37	1	154295748	154295748	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:154295748G>T	ENST00000484864.1	+	4	438	c.402G>T	c.(400-402)ctG>ctT	p.L134L	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Silent_p.L134L			Q96PS8	AQP10_HUMAN	aquaporin 10	134					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGGGAACCTGACAGTGACTG	0.532000													12	139					0.00136819	0.0015572	1	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389500	1389500	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:1389500C>T	ENST00000324803.4	+	1	4161	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	401	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACACAAAGCCCTGGCATGGTG	0.562000													29	163					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48339506	48339506	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:48339506C>A	ENST00000221996.7	+	3	313	c.107C>A	c.(106-108)cCc>cAc	p.P36H	CRX_ENST00000539067.1_Missense_Mutation_p.P36H|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	36					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCAGGCGCCCCCAGGAAGCAG	0.637000													14	53					7.07596e-05	8.73743e-05	1	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443730	5443730	+	Missense_Mutation	SNP	T	T	G	rs79683057	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:5443730T>G	ENST00000300778.4	+	1	390	c.300T>G	c.(298-300)ttT>ttG	p.F100L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCTGTTTTGCTCAGTTTT	0.527000													15	94					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086549	92086549	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:92086549C>A	ENST00000298047.6	+	1	1288	c.1271C>A	c.(1270-1272)cCt>cAt	p.P424H	FAT3_ENST00000541502.1_Missense_Mutation_p.P424H|FAT3_ENST00000525166.1_Missense_Mutation_p.P274H|FAT3_ENST00000409404.2_Missense_Mutation_p.P424H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	424	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAATTAATCCTCGGTCGGGT	0.413000										TCGA Ovarian(4;0.039)			7	30					0.00198382	0.00224067	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113103956	113103956	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:113103956G>T	ENST00000316851.7	+	12	1580	c.1580G>T	c.(1579-1581)gGg>gTg	p.G527V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G536V|NCAM1_ENST00000533760.1_Missense_Mutation_p.G409V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	537	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCACAGGTGGGGTGCCCATC	0.547000													3	20					0.150653	0.154188	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433282	73433282	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:73433282G>T	ENST00000263666.4	-	10	2549	c.2435C>A	c.(2434-2436)aCg>aAg	p.T812K	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T469K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T529K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T534K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T469K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	812							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGATCTTCCGTGATGGAGAG	0.647000													9	71					1.08611e-07	1.63191e-07	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107423779	107423779	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:107423779C>A	ENST00000334504.7	-	25	2330	c.2097G>T	c.(2095-2097)ggG>ggT	p.G699G	COL4A6_ENST00000394872.2_Silent_p.G700G|COL4A6_ENST00000545689.1_Silent_p.G699G|COL4A6_ENST00000538570.1_Silent_p.G699G|COL4A6_ENST00000372216.4_Silent_p.G700G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	700	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCCTGGACTCCCTGGCTCTC	0.517000									Alport syndrome with Diffuse Leiomyomatosis				6	32					0.00198382	0.00224067	1	1	0
MICAL1	64780	broad.mit.edu	37	6	109767562	109767562	+	Silent	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:109767562T>A	ENST00000368952.4	-	19	2705	c.2415A>T	c.(2413-2415)acA>acT	p.T805T	MICAL1_ENST00000358807.3_Silent_p.T786T|MICAL1_ENST00000358577.3_Silent_p.T700T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	786					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCTGCGAGGCTGTGGGAGTTG	0.662000													13	66					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115529575	115529575	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:115529575C>A	ENST00000361048.1	+	7	795	c.468C>A	c.(466-468)ctC>ctA	p.L156L	PLEKHS1_ENST00000369310.3_Silent_p.L150L|PLEKHS1_ENST00000369312.4_Silent_p.L68L	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		AAAGAACCCTCTTCTACTCCA	0.502000													32	117					3.80469e-20	7.61452e-20	1	1	0
PAK3	5063	broad.mit.edu	37	X	110463671	110463671	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:110463671G>T	ENST00000519681.1	+	19	2136	c.1694G>T	c.(1693-1695)cGc>cTc	p.R565L	PAK3_ENST00000360648.4_Missense_Mutation_p.R580L|PAK3_ENST00000372007.4_Missense_Mutation_p.R544L|PAK3_ENST00000425146.1_Missense_Mutation_p.R544L|PAK3_ENST00000262836.4_Missense_Mutation_p.R559L|PAK3_ENST00000417227.1_Missense_Mutation_p.R565L|PAK3_ENST00000518291.1_Missense_Mutation_p.R580L|PAK3_ENST00000446737.1_Missense_Mutation_p.R544L|PAK3_ENST00000372010.1_Missense_Mutation_p.R559L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	559					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACAGCAGCCGCTAAGACTGC	0.448000										TSP Lung(19;0.15)			7	18					0.00198382	0.00224067	1	1	0
TTN	7273	broad.mit.edu	37	2	179553837	179553837	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:179553837G>T	ENST00000589042.1	-	125	32262	c.32038C>A	c.(32038-32040)Cca>Aca	p.P10680T	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10363T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9436T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10363	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCCTCTGGGACGGGTTTC	0.418000													8	59					3.86212e-05	4.82521e-05	1	1	0
MARK3	4140	broad.mit.edu	37	14	103934452	103934452	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:103934452G>A	ENST00000429436.2	+	12	1703	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D	MARK3_ENST00000303622.9_Missense_Mutation_p.G398D|MARK3_ENST00000335102.5_Missense_Mutation_p.G421D|MARK3_ENST00000216288.7_Missense_Mutation_p.G382D|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.G319D|MARK3_ENST00000416682.2_Missense_Mutation_p.G421D|MARK3_ENST00000553942.1_Missense_Mutation_p.G398D	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	398							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AACAGTACTGGCCAGTCTCCT	0.448000													17	81					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	111067334	111067334	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:111067334T>C	ENST00000368911.3	-	2	378	c.199A>G	c.(199-201)Att>Gtt	p.I67V	CDK19_ENST00000323817.3_Missense_Mutation_p.I7V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	67	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTACTGCAATCTCTCTACAA	0.269000													23	83					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124268284	124268284	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:124268284A>T	ENST00000368984.3	+	6	1246	c.1118A>T	c.(1117-1119)aAa>aTa	p.K373I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	373	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CGACAGGCCAAAGGTAGGCAA	0.537000													13	58					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884219	39884219	+	Missense_Mutation	SNP	C	C	A	rs144639692	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:39884219C>A	ENST00000341184.6	+	2	1082	c.867C>A	c.(865-867)gaC>gaA	p.D289E		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	289					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGATCGCCGACGACTACCTGC	0.652000													23	89					3.5997e-14	6.80045e-14	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680332	18680332	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:18680332G>T	ENST00000380548.4	+	11	1498	c.1159G>T	c.(1159-1161)Gcg>Tcg	p.A387S	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A387S|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A387S|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A370S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	387	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCATGGACCGCGTGCTCCTC	0.602000													6	28					3.59834e-05	4.51849e-05	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158627452	158627452	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158627452C>A	ENST00000368148.3	-	19	2800	c.2620G>T	c.(2620-2622)Gtc>Ttc	p.V874F	SPTA1_ENST00000368147.3_Missense_Mutation_p.V874F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	874					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAACTCTTGACCCTAGAGGCC	0.453000													49	124					5.73435e-26	1.17459e-25	1	1	0
NID1	4811	broad.mit.edu	37	1	236211988	236211988	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:236211988A>T	ENST00000264187.6	-	2	608		c.e2+1		NID1_ENST00000366595.3_Splice_Site	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1						cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGGGGAGCTTACCTTGCCTTT	0.542000													4	40					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639908	44639908	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:44639908C>A	ENST00000372330.3	+	5	795	c.776C>A	c.(775-777)aCg>aAg	p.T259K		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	259	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCAGTACCACGGCCAACTAC	0.682000													10	114					5.16669e-11	8.97213e-11	1	1	0
ACIN1	22985	broad.mit.edu	37	14	23549553	23549553	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:23549553G>A	ENST00000262710.1	-	6	1492	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	ACIN1_ENST00000457657.1_Missense_Mutation_p.P349S|ACIN1_ENST00000605057.1_Missense_Mutation_p.P331S|ACIN1_ENST00000555053.1_Missense_Mutation_p.P389S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	389	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGTCGAGGAGGGGAAGGAGAC	0.473000													12	56					0	0	1	0	0
WIPI2	26100	broad.mit.edu	37	7	5270471	5270471	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:5270471A>G	ENST00000288828.4	+	13	1490	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	WIPI2_ENST00000404704.3_Missense_Mutation_p.T409A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T350A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T391A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T402A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	420					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGCAGCCTACACAGACGACCT	0.607000													5	34					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104869746	104869746	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:104869746C>A	ENST00000393141.2	-	7	1032	c.1001G>T	c.(1000-1002)gGg>gTg	p.G334V	CASP5_ENST00000444749.2_Missense_Mutation_p.G263V|CASP5_ENST00000531367.1_Missense_Mutation_p.G179V|CASP5_ENST00000418434.1_Missense_Mutation_p.G179V|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Missense_Mutation_p.G334V|CASP5_ENST00000260315.3_Missense_Mutation_p.G321V	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	321			L -> V (in dbSNP:rs523104).		apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCAGAGTTCCCCATGTTTTTC	0.418000													13	72					0.00010058	0.000121664	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719419	140719419	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140719419T>A	ENST00000394576.2	+	1	881	c.881T>A	c.(880-882)cTt>cAt	p.L294H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATTTGAGCTTAAGTCAACA	0.438000													25	243					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605358	90605358	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:90605358G>T	ENST00000369352.1	+	1	1171	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	391					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.D391N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAGTCCCAGGACCCAGAACC	0.522000													18	74					1.02788e-11	1.8147e-11	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325521	31325521	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:31325521G>T	ENST00000269197.5	+	12	5709	c.5709G>T	c.(5707-5709)tcG>tcT	p.S1903S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCTCCCCTCGTGTAGCTTCC	0.498000													20	143					2.4624e-09	3.98661e-09	1	1	0
KLK11	11012	broad.mit.edu	37	19	51527302	51527302	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:51527302C>A	ENST00000594768.1	-	4	743	c.559_splice	c.e4+1	p.Q186_splice	KLK11_ENST00000319720.7_Splice_Site_p.Q154_splice|KLK11_ENST00000453757.3_Splice_Site_p.Q154_splice|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Splice_Site_p.Q179_splice	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	186	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGCTCCTACACTGGGGGCTGG	0.637000													4	5					0.00909568	0.00987474	1	1	0
OR5M3	219482	broad.mit.edu	37	11	56237872	56237872	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56237872G>T	ENST00000312240.2	-	1	142	c.102C>A	c.(100-102)atC>atA	p.I34I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATGGTGATGATGTAGACCA	0.443000													17	124					6.94344e-10	1.15309e-09	1	1	0
FLG	2312	broad.mit.edu	37	1	152278935	152278935	+	Silent	SNP	A	A	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:152278935A>G	ENST00000368799.1	-	3	8462	c.8427T>C	c.(8425-8427)tcT>tcC	p.S2809S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2809	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGTCCAGAGCTATCTA	0.582000									Ichthyosis				49	430					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579690	140579690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140579690C>T	ENST00000354757.3	+	1	343	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		115	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACCCCACGCAGTTTTTACA	0.463000													28	201					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54974275	54974275	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:54974275T>G	ENST00000217109.4	+	5	1250	c.898T>G	c.(898-900)Ttt>Gtt	p.F300V	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	300					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			CATCACAACTTTTGAGAAAGC	0.378000													28	133					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128470785	128470785	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:128470785G>T	ENST00000325888.8	+	1	355	c.94G>T	c.(94-96)Gcg>Tcg	p.A32S	FLNC_ENST00000346177.6_Missense_Mutation_p.A32S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	32	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCGGAGGACGCGCCGTGGAA	0.637000													7	37					8.12818e-05	9.91291e-05	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140732048	140732048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140732048G>T	ENST00000523390.1	+	1	2221	c.2221G>T	c.(2221-2223)Gag>Tag	p.E741*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCACAGCGAGGGGACTTT	0.562000													21	111					7.45023e-12	1.3232e-11	1	1	0
MDM1	56890	broad.mit.edu	37	12	68708775	68708775	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:68708775C>G	ENST00000303145.7	-	9	1538	c.1452G>C	c.(1450-1452)gaG>gaC	p.E484D	MDM1_ENST00000540418.1_Missense_Mutation_p.E204D|MDM1_ENST00000411698.2_Missense_Mutation_p.E449D	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	484						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CATCCAACTTCTCTTGCTCTC	0.438000													30	463					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776555	13776555	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:13776555T>G	ENST00000265104.4	-	55	9470	c.9366A>C	c.(9364-9366)ttA>ttC	p.L3122F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3122	AAA 4 (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)					AACCAGCAACTAAAGCATCTT	0.468000									Kartagener syndrome				19	165					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58512726	58512726	+	RNA	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:58512726G>T	ENST00000588627.1	-	0	631																											CAACCTCGCGGATCTTTTCTG	0.522000													8	21					1.06961e-07	1.61367e-07	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946336	16946336	+	RNA	SNP	G	G	A	rs11586784	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183																											CAGGGCTCACGAACCTGCTGC	0.662000													3	9					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808683	24808683	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:24808683C>A	ENST00000216274.5	-	2	359	c.141G>T	c.(139-141)gtG>gtT	p.V47V	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	47	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TCTTGACCGCCACATCGTAGC	0.602000													15	147					4.7546e-09	7.61455e-09	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147108782	147108782	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:147108782C>A	ENST00000383075.3	-	4	1452	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	ZIC4_ENST00000425731.3_Missense_Mutation_p.G352C|ZIC4_ENST00000525172.2_Missense_Mutation_p.G364C|ZIC4_ENST00000473123.1_Missense_Mutation_p.G314C|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.G314C|ZIC4_ENST00000491672.1_Missense_Mutation_p.G108C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	314						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GACTTGTGGCCGCAGTCCGAC	0.692000													7	34					0.00307968	0.00344432	1	1	0
KANSL1L	151050	broad.mit.edu	37	2	211018645	211018645	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:211018645T>C	ENST00000281772.9	-	2	925	c.662A>G	c.(661-663)cAt>cGt	p.H221R	KANSL1L_ENST00000452086.1_Missense_Mutation_p.H221R|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H221R|KANSL1L_ENST00000457374.1_Missense_Mutation_p.H221R	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	221																	TAAACGAGCATGTACTTCCTC	0.388000													44	101					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55981172	55981172	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:55981172C>A	ENST00000263923.4	-	5	822	c.527G>T	c.(526-528)aGa>aTa	p.R176I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	176	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGAAATTCTGTTACCATC	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			3	35					1	1	1	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3140367	3140367	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:3140367G>T	ENST00000252463.2	-	5	990	c.903C>A	c.(901-903)ttC>ttA	p.F301L	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.F219L|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	301					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ACAGCTGCGGGAAGCTCACCC	0.642000													10	89					1.58986e-06	2.19736e-06	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129498910	129498910	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:129498910T>A	ENST00000421865.2	+	10	1415	c.1366T>A	c.(1366-1368)Tgt>Agt	p.C456S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	456	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGTGATCGGTGTGCCAGGGG	0.483000													7	54					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75490924	75490924	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:75490924G>T	ENST00000502798.2	+	3	1203	c.761_splice	c.e3+1	p.G254_splice	SV2C_ENST00000322285.7_Splice_Site_p.G254_splice	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	254					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCTGGATTCGGGTAAGGTTTT	0.378000													27	196					1.1804e-14	2.24715e-14	1	1	0
SLC22A2	6582	broad.mit.edu	37	6	160679600	160679600	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr6:160679600C>A	ENST00000366952.1	-	3	1608	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.G64C			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	64					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGACTCCAGCCGCAGCGCAGA	0.667000													13	64					1.61879e-10	2.76256e-10	1	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157899	26157899	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:26157899G>C	ENST00000325250.1	+	2	984	c.797G>C	c.(796-798)cGc>cCc	p.R266P		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	266	MAGE.						protein binding	p.R266P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GATCCTCCACGCTATGAATTC	0.498000													14	47					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685604	248685604	+	Silent	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248685604C>T	ENST00000343414.4	+	1	689	c.657C>T	c.(655-657)ggC>ggT	p.G219G		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCTATGGCTTTATCACTC	0.473000													35	107					0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38977301	38977301	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:38977301C>A	ENST00000313117.6	-	2	301	c.64G>T	c.(64-66)Gct>Tct	p.A22S	SRSF7_ENST00000446327.2_Missense_Mutation_p.A22S|SRSF7_ENST00000409276.1_Missense_Mutation_p.A22S	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	22	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTTGCCAGCGCCAGTTCCC	0.413000													24	140					4.26978e-12	7.61067e-12	1	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17365095	17365095	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:17365095C>A	ENST00000377602.4	-	7	771	c.697G>T	c.(697-699)Gtg>Ttg	p.V233L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	233					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTTATAGTCACAAGATTTGTT	0.338000													10	120					2.27111e-07	3.32483e-07	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122632184	122632184	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:122632184C>A	ENST00000195173.4	-	17	2668	c.2365G>T	c.(2365-2367)Ggc>Tgc	p.G789C	SEMA5B_ENST00000451055.2_Missense_Mutation_p.G844C|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G790C			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	790					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGTGCCCCGCCCTGCGTCACG	0.716000													3	9					0.004672	0.00515519	1	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157349	26157349	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:26157349G>A	ENST00000325250.1	+	2	434	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	83							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGTTCAAATGAAGGTGCCAG	0.502000													9	37					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626873	122626873	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:122626873C>A	ENST00000303924.4	-	4	1672	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	379						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATAATCGCTTCGTAGGTCATC	0.443000													26	164					1.17739e-12	2.15565e-12	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232577089	232577089	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:232577089C>T	ENST00000366630.1	-	13	3948	c.3590G>A	c.(3589-3591)aGa>aAa	p.R1197K	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R271K|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1197K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1197					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGCAGAGCTCTTTCTTTATA	0.438000													59	518					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7034488	7034488	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:7034488C>A	ENST00000389658.3	-	14	2134	c.2041G>T	c.(2041-2043)Gct>Tct	p.A681S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	681	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTAAAGAGCCATTTTTGCA	0.358000													7	37					2.0095e-06	2.75169e-06	1	1	0
SLC3A1	6519	broad.mit.edu	37	2	44508563	44508563	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:44508563G>T	ENST00000260649.6	+	3	724	c.648G>T	c.(646-648)acG>acT	p.T216T	SLC3A1_ENST00000409229.3_Silent_p.T216T|SLC3A1_ENST00000410056.3_Silent_p.T216T|SLC3A1_ENST00000409387.1_Silent_p.T216T|SLC3A1_ENST00000409741.1_Silent_p.T216T	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	216			T -> M (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAAACCACACGAGTGATAAAC	0.338000													6	62					0.00116845	0.00133498	1	1	0
BTBD1	53339	broad.mit.edu	37	15	83735784	83735784	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:83735784C>A	ENST00000261721.4	-	1	322	c.120G>T	c.(118-120)ctG>ctT	p.L40L	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Silent_p.L40L|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	40						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTTCCCGCTGCAGGGGGAGCA	0.726000													6	18					8.12818e-05	9.91291e-05	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101551147	101551147	+	Silent	SNP	T	T	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:101551147T>G	ENST00000536262.2	-	15	2301	c.1743A>C	c.(1741-1743)ccA>ccC	p.P581P		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	581					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATCTTCCACTGGATGTGATT	0.388000													9	22					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967632	41967632	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:41967632G>T	ENST00000298919.7	+	10	2659	c.2271G>T	c.(2269-2271)ggG>ggT	p.G757G	PDZRN4_ENST00000539469.2_Silent_p.G759G|PDZRN4_ENST00000402685.2_Silent_p.G1017G			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	1017							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGACCCATGGGGCCAAGTCTC	0.423000													6	57					2.0095e-06	2.75169e-06	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061366	117061366	+	Splice_Site	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:117061366T>A	ENST00000355044.3	+	17	2757	c.2629_splice	c.e17-1	p.V877_splice	ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	877						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTATTCCAGTTAGTCCAAATC	0.378000													9	32					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084444	248084444	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248084444T>A	ENST00000319968.4	+	1	125	c.125T>A	c.(124-126)cTc>cAc	p.L42H		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCAATTCCCTCATGATTCTC	0.502000													9	75					0	0	1	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231995	142231995	+	RNA	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:142231995C>A	ENST00000390364.3	-	0	95																											AGACAAAGGGCCACATAGAAG	0.582000													9	64					1.12685e-05	1.46718e-05	1	1	0
OR14C36	127066	broad.mit.edu	37	1	248512413	248512413	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248512413C>A	ENST00000317861.1	+	1	337	c.337C>A	c.(337-339)Ctc>Atc	p.L113I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCTTCTGTTTCTCACCATTAT	0.493000													15	69					1.49906e-05	1.92643e-05	1	1	0
KIF5C	3800	broad.mit.edu	37	2	149837907	149837907	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:149837907G>C	ENST00000435030.1	+	14	1769	c.1401G>C	c.(1399-1401)caG>caC	p.Q467H	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.Q372H|KIF5C_ENST00000397413.1_Missense_Mutation_p.Q235H			O60282	KIF5C_HUMAN	kinesin family member 5C	467					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAAGATACAGGAGGAGCTGA	0.448000													4	15					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41536235	41536235	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr22:41536235G>A	ENST00000263253.7	+	9	3071	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	618	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTTGAAGGGGACATGTATGA	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				24	127					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85411584	85411584	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:85411584C>T	ENST00000258888.5	+	14	5788	c.5621C>T	c.(5620-5622)cCa>cTa	p.P1874L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1874					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAGAGTGCTCCAAGTTCCAAG	0.627000													8	46					0	0	1	0	0
DACT3	147906	broad.mit.edu	37	19	47151760	47151760	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:47151760G>A	ENST00000391916.2	-	4	1942	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	DACT3_ENST00000300875.4_Silent_p.L398L	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	623										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		TCATGACCTTGAGAGAACCCG	0.562000													62	277					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950260	118950260	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:118950260G>T	ENST00000328252.3	+	2	1612	c.1243G>T	c.(1243-1245)Gac>Tac	p.D415Y		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	415	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCCAACTGTGACATCAGCAA	0.627000													5	53					0.014758	0.0158251	1	1	0
WDR16	146845	broad.mit.edu	37	17	9532018	9532018	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:9532018C>A	ENST00000352665.5	+	9	1124	c.1055C>A	c.(1054-1056)gCc>gAc	p.A352D	WDR16_ENST00000396219.3_Missense_Mutation_p.A284D|WDR16_ENST00000299764.5_Missense_Mutation_p.A362D	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	352						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCAACCTGTGCCAAGAAGGAT	0.507000													7	37					5.18039e-06	6.86552e-06	1	1	0
RP1	6101	broad.mit.edu	37	8	55541396	55541396	+	Missense_Mutation	SNP	C	C	A	rs151328121	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:55541396C>A	ENST00000220676.1	+	4	5102	c.4954C>A	c.(4954-4956)Cgc>Agc	p.R1652S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1652			R -> L (in RP1; uncertain pathogenicity).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGGTCTACCCGCAAATCTCA	0.373000													27	168					2.79863e-10	4.7217e-10	1	1	0
PEG3	5178	broad.mit.edu	37	19	57325727	57325727	+	Missense_Mutation	SNP	A	A	T	rs145005818	byFrequency	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:57325727A>T	ENST00000326441.9	-	10	4446	c.4083T>A	c.(4081-4083)gaT>gaA	p.D1361E	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1361E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1235E|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1237E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1361	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ctgctgctTCATCTTCTTCTT	0.453000													12	67					0	0	1	0	0
TOMM20	9804	broad.mit.edu	37	1	235277177	235277177	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:235277177C>A	ENST00000366607.4	-	4	519	c.299G>T	c.(298-300)tGt>tTt	p.C100F	TOMM20_ENST00000467767.1_5'UTR	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	100					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TGGCTGTCCACACACAGCAAT	0.443000													25	107					7.07758e-08	1.07873e-07	1	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51958789	51958789	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:51958789G>T	ENST00000321424.3	-	4	1000	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L203M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L219M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	312	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGCTCCAGCAGCCCAGGGTTT	0.642000													5	37					0.0293803	0.0309453	1	1	0
NPR2	4882	broad.mit.edu	37	9	35792898	35792898	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:35792898C>T	ENST00000342694.2	+	1	748	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	165					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTGGACTGCCCGTGCTGCCTT	0.572000													22	85					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143713799	143713799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:143713799C>T	ENST00000264170.4	+	6	721	c.463C>T	c.(463-465)Cga>Tga	p.R155*	KYNU_ENST00000409512.1_Nonsense_Mutation_p.R155*|KYNU_ENST00000375773.2_Nonsense_Mutation_p.R155*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	155					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TACGCCAAAACGATATAAAAT	0.308000													4	45					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860930	21860930	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:21860930C>A	ENST00000399982.2	-	33	6571	c.6507G>T	c.(6505-6507)caG>caT	p.Q2169H	CHD8_ENST00000557364.1_Missense_Mutation_p.Q2169H|CHD8_ENST00000430710.3_Missense_Mutation_p.Q1890H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2169					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGAGTACAGCCTGGCAGACGA	0.493000													11	129					9.05144e-12	1.60374e-11	1	1	0
MC3R	4159	broad.mit.edu	37	20	54824139	54824139	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:54824139G>A	ENST00000243911.2	+	1	352	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	117					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCAGCCTGGCGGTGGCCG	0.567000													4	63					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144114	11144114	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:11144114G>T	ENST00000358026.2	+	26	3979	c.3695G>T	c.(3694-3696)gGc>gTc	p.G1232V	SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1232V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1232V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1232V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1232V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1232V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1232	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.G1232D(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCCAGGCCGGCATGTTCGAC	0.637000			"""F, N, Mis"""		NSCLC								16	91					6.94344e-10	1.15309e-09	1	1	0
ATF7IP	55729	broad.mit.edu	37	12	14599921	14599921	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:14599921G>T	ENST00000544627.1	+	6	2273		c.e6-1		ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000541654.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTTTTTTTCAGGCCAAGATAG	0.264000													5	51					8.12818e-05	9.91291e-05	1	1	0
MOGAT1	116255	broad.mit.edu	37	2	223559247	223559247	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:223559247G>T	ENST00000446656.3	+	4	645	c.645G>T	c.(643-645)ttG>ttT	p.L215F		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	215					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AAATTGCTTTGACCCATGGGT	0.413000													4	26					0.014758	0.0158251	1	1	0
ITIH1	3697	broad.mit.edu	37	3	52821100	52821100	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:52821100G>A	ENST00000273283.2	+	14	1897	c.1873G>A	c.(1873-1875)Gac>Aac	p.D625N	ITIH1_ENST00000540715.1_Missense_Mutation_p.D483N|ITIH1_ENST00000537050.1_Missense_Mutation_p.D337N|ITIH1_ENST00000542827.1_Missense_Mutation_p.D625N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	625	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCCACCATCGACAAGCCCTC	0.577000													5	85					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31160810	31160810	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:31160810G>T	ENST00000268281.4	-	3	141	c.83C>A	c.(82-84)cCt>cAt	p.P28H	PRSS36_ENST00000418068.2_Missense_Mutation_p.P28H|PRSS36_ENST00000569305.1_Missense_Mutation_p.P28H	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	28					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TTCCTGGGTAGGACTGAGAGC	0.592000													8	54					0.00448238	0.00498677	1	1	0
PALD1	27143	broad.mit.edu	37	10	72307173	72307173	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:72307173C>A	ENST00000263563.6	+	18	2501	c.2233C>A	c.(2233-2235)Cgg>Agg	p.R745R		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.R745W(1)									CTACCACCTGCGGGAGATCAT	0.662000													15	51					0.0285812	0.0302541	1	1	0
HTRA1	5654	broad.mit.edu	37	10	124268283	124268283	+	Nonsense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:124268283A>T	ENST00000368984.3	+	6	1245	c.1117A>T	c.(1117-1119)Aaa>Taa	p.K373*		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	373	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCGACAGGCCAAAGGTAGGCA	0.537000													11	58					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84601001	84601001	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:84601001G>T	ENST00000262753.4	-	6	733	c.588C>A	c.(586-588)ccC>ccA	p.P196P	POF1B_ENST00000373145.3_Silent_p.P196P	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	196							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGATGACCTGGGGCTGTTGGA	0.438000													13	55					0.0167234	0.0179067	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157517179	157517179	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:157517179G>A	ENST00000356953.4	-	2	65	c.38C>T	c.(37-39)tCc>tTc	p.S13F	FCRL5_ENST00000368189.3_Intron|FCRL5_ENST00000368188.2_Intron|FCRL5_ENST00000368190.3_Intron|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000361835.3_Intron			Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	13						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTGCCCAGGGGATGGCAATGA	0.522000													3	14					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179674444	179674444	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:179674444G>A	ENST00000452135.2	-	7	981	c.683C>T	c.(682-684)aCt>aTt	p.T228I	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.T228I|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.T228I|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000343111.6_Intron			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	228	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATACGGTCAGTGCCTTGGAA	0.483000													7	41					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100961620	100961620	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:100961620C>A	ENST00000193391.7	-	14	3121	c.2934G>T	c.(2932-2934)gcG>gcT	p.A978A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	978	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCATGTACACCGCATTGTTGA	0.413000													25	137					4.47668e-21	9.00803e-21	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634049	70634049	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr14:70634049C>A	ENST00000381269.2	-	2	1844	c.1091G>T	c.(1090-1092)gGt>gTt	p.G364V	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G364V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G364V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G364V|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G364V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	364					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)		ATTGCCTGCACCAGTCATCAT	0.507000													14	78					1.5842e-08	2.49402e-08	1	1	0
USP29	57663	broad.mit.edu	37	19	57642596	57642596	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:57642596G>T	ENST00000254181.4	+	4	3007	c.2553G>T	c.(2551-2553)caG>caT	p.Q851H	USP29_ENST00000598197.1_Missense_Mutation_p.Q851H	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	851					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCAGAAGCAGGCCTGGTTCA	0.468000													11	50					0.00010058	0.000121664	1	1	0
FAM53C	51307	broad.mit.edu	37	5	137680774	137680774	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:137680774G>T	ENST00000239906.5	+	4	825	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.V133L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	133										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGCAGCCGGTGTGGCGGCC	0.692000													13	90					4.36969e-10	7.30581e-10	1	1	0
GP5	2814	broad.mit.edu	37	3	194118786	194118786	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:194118786G>T	ENST00000401815.1	-	1	297	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	GP5_ENST00000323007.3_Missense_Mutation_p.L76M			P40197	GPV_HUMAN	glycoprotein V (platelet)	76					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGGCGCTGCAGGACGGTCATG	0.617000													6	78					0.0215528	0.0228632	1	1	0
NEB	4703	broad.mit.edu	37	2	152404840	152404840	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:152404840G>T	ENST00000397345.3	-	131	20341	c.20139C>A	c.(20137-20139)gtC>gtA	p.V6713V	NEB_ENST00000603639.1_Silent_p.V6713V|NEB_ENST00000604864.1_Silent_p.V6713V|NEB_ENST00000172853.10_Silent_p.V5012V|NEB_ENST00000427231.2_Silent_p.V6713V|NEB_ENST00000409198.1_Silent_p.V5012V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5012					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		TAACATTGTTGACTCTCCGGA	0.413000													10	87					2.17888e-05	2.77601e-05	1	1	0
OMD	4958	broad.mit.edu	37	9	95179521	95179521	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:95179521G>A	ENST00000375550.4	-	2	595	c.320C>T	c.(319-321)aCt>aTt	p.T107I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	107					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGAATTTGCAGTCACAGCCTC	0.353000			T	USP6	aneurysmal bone cysts								27	194					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547731	19547731	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:19547731G>T	ENST00000396212.2	+	5	1176	c.740G>T	c.(739-741)aGt>aTt	p.S247I	CCP110_ENST00000396208.2_Missense_Mutation_p.S247I|CCP110_ENST00000381396.5_Missense_Mutation_p.S247I	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	247					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TCTAGACGCAGTCTGAGAGGT	0.388000													18	86					9.16793e-09	1.45257e-08	1	1	0
R3HDM1	23518	broad.mit.edu	37	2	136396678	136396678	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:136396678G>T	ENST00000264160.4	+	14	1575	c.1205G>T	c.(1204-1206)aGg>aTg	p.R402M	R3HDM1_ENST00000409478.1_Missense_Mutation_p.R358M|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R358M|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R402M|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R346M	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	402							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCATAGGCAGGCTTTCAAAA	0.413000													18	93					8.28177e-16	1.5992e-15	1	1	0
ACACA	31	broad.mit.edu	37	17	35487103	35487103	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:35487103C>A	ENST00000353139.5	-	46	6202	c.5721G>T	c.(5719-5721)ggG>ggT	p.G1907G	ACACA_ENST00000335166.5_Silent_p.G1792G|ACACA_ENST00000394406.2_Silent_p.G1870G|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Silent_p.G1812G	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1870	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTGGATGCCCCCCAGCTGGT	0.488000													10	149					0.411799	0.414594	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158549021	158549021	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:158549021C>A	ENST00000368150.1	-	1	668	c.669G>T	c.(667-669)ttG>ttT	p.L223F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGGTACCCAGCAAACCAGACA	0.453000													16	117					4.7546e-09	7.61455e-09	1	1	0
BPIFB1	92747	broad.mit.edu	37	20	31873890	31873890	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:31873890C>G	ENST00000253354.1	+	2	172	c.11C>G	c.(10-12)cCg>cGg	p.P4R		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	4						extracellular space	lipid binding										ATGGCCGGCCCGTGGACCTTC	0.617000													7	79					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499186	62499186	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:62499186T>A	ENST00000225792.5	-	8	1242	c.841A>T	c.(841-843)Act>Tct	p.T281S	DDX5_ENST00000450599.2_Missense_Mutation_p.T202S|DDX5_ENST00000578804.1_Missense_Mutation_p.T281S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	281	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTTGGCCAAGTCGCACTCCAC	0.383000			T	ETV4	prostate								35	228					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774264	140774264	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:140774264G>T	ENST00000398604.2	+	1	1884	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.687000													13	71					2.61681e-11	4.57095e-11	1	1	0
USP46	64854	broad.mit.edu	37	4	53492221	53492221	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:53492221C>A	ENST00000441222.2	-	4	709	c.525G>T	c.(523-525)acG>acT	p.T175T	USP46_ENST00000451218.2_Silent_p.T148T|USP46_ENST00000508499.1_Silent_p.T168T	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	175					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CATTGGTAAGCGTTCCCTGAA	0.388000													6	40					0.000274275	0.00032488	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147113896	147113896	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:147113896C>A	ENST00000383075.3	-	3	943	c.431G>T	c.(430-432)tGc>tTc	p.C144F	ZIC4_ENST00000425731.3_Missense_Mutation_p.C182F|ZIC4_ENST00000525172.2_Missense_Mutation_p.C194F|ZIC4_ENST00000473123.1_Missense_Mutation_p.C144F|ZIC4_ENST00000484399.1_Missense_Mutation_p.C144F|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	144						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGTTTTGGAGCAGAGGCTCGG	0.637000													19	104					5.03518e-11	8.76429e-11	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6107499	6107499	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:6107499C>G	ENST00000409021.3	-	3	774	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E109Q|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E109Q|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	109	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCTGCAGCTCGCCCTCCTTG	0.716000													3	14					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43903143	43903143	+	Missense_Mutation	SNP	C	C	G	rs147470294		TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:43903143C>G	ENST00000450892.2	-	14	3423	c.3346G>C	c.(3346-3348)Ggt>Cgt	p.G1116R	STRC_ENST00000541030.1_Intron	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1116					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACAGCTGGACCAGCACCTGTT	0.493000													8	78					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55223833	55223833	+	Silent	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:55223833C>A	ENST00000371279.3	-	2	1084	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	334					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CCATTTCAGCCAGGGTTGGTT	0.517000													8	94					0.00307968	0.00344432	1	1	0
VCAN	1462	broad.mit.edu	37	5	82817222	82817222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:82817222G>T	ENST00000265077.3	+	7	3662	c.3097G>T	c.(3097-3099)Gaa>Taa	p.E1033*	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.E985*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.E1033*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1033	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACAACTCAGGAAGAATTCCC	0.453000													10	45					1.58986e-06	2.19736e-06	1	1	0
FYB	2533	broad.mit.edu	37	5	39202745	39202745	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:39202745T>A	ENST00000351578.6	-	2	508	c.318A>T	c.(316-318)aaA>aaT	p.K106N	FYB_ENST00000540520.1_Missense_Mutation_p.K116N|FYB_ENST00000505428.1_Missense_Mutation_p.K106N|FYB_ENST00000515010.1_Missense_Mutation_p.K106N|FYB_ENST00000512982.1_Missense_Mutation_p.K106N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	106					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GAAATCCCACTTTCGCCTCGG	0.542000													11	43					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451271	105451271	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:105451271G>A	ENST00000337685.2	+	5	2631	c.1846G>A	c.(1846-1848)Gtc>Atc	p.V616I	MUM1L1_ENST00000372552.1_Missense_Mutation_p.V616I|MUM1L1_ENST00000357175.2_Missense_Mutation_p.V616I	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	616										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTACAAGAAGTCTGCAATCA	0.313000													7	29					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342388	36342388	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:36342388C>A	ENST00000378910.5	-	2	244	c.245G>T	c.(244-246)aGg>aTg	p.R82M	NPHS1_ENST00000353632.6_Missense_Mutation_p.R82M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	82	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGCGGTACCTCGGGAAGCC	0.672000													6	24					5.18039e-06	6.86552e-06	1	1	0
RIT2	6014	broad.mit.edu	37	18	40695437	40695437	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr18:40695437G>T	ENST00000589109.1	-	1	219	c.48C>A	c.(46-48)ggC>ggA	p.G16G	RIT2_ENST00000590910.1_Silent_p.G16G|RIT2_ENST00000282028.4_Silent_p.G16G|RIT2_ENST00000326695.5_Silent_p.G16G	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	16					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGGACCCGCCTGATGCGC	0.542000													13	119					2.68362e-12	4.85342e-12	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23803944	23803944	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:23803944C>T	ENST00000264867.2	-	11	2163	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	682	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTGATTTTACCGACATAAATC	0.517000													15	89					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39105132	39105132	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:39105132G>T	ENST00000261425.3	+	8	1677		c.e8+1		KLHL5_ENST00000504108.1_Splice_Site|KLHL5_ENST00000508137.2_Splice_Site|KLHL5_ENST00000261426.5_Splice_Site|KLHL5_ENST00000359687.2_Splice_Site|KLHL5_ENST00000381930.3_Splice_Site	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5							cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CATGGCCTTGGTAAGTACAAC	0.463000													11	81					3.03607e-14	5.75767e-14	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143710	56143710	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:56143710G>T	ENST00000302270.1	+	1	611	c.611G>T	c.(610-612)gGt>gTt	p.G204V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCCTGTGCTGGTATCATGTTC	0.458000													25	147					9.57634e-11	1.64753e-10	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039155	11039155	+	RNA	SNP	T	T	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:11039155T>A	ENST00000470054.1	-	0	1048									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCCTCATGTGGGGACACTA	0.398000													12	331					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487137	248487137	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:248487137A>T	ENST00000317965.2	-	1	762	c.734T>A	c.(733-735)cTc>cAc	p.L245H		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACCACCATGAGGTGAGAGGA	0.463000													47	296					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55331015	55331015	+	Silent	SNP	G	G	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:55331015G>A	ENST00000371269.3	-	6	1079	c.981C>T	c.(979-981)taC>taT	p.Y327Y	DHCR24_ENST00000537443.1_Intron|DHCR24_ENST00000535035.1_Silent_p.Y286Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	327					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGCGGTGGTAGTAGTGTCTCA	0.552000													5	46					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866270	166866270	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:166866270G>C	ENST00000423058.2	-	20	3978	c.3961C>G	c.(3961-3963)Ctg>Gtg	p.L1321V	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1321V|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1310V|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1293V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1321						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAGGTCTCAGAGCTCTTAGT	0.368000													8	68					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127872103	127872103	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:127872103C>A	ENST00000508053.1	-	8	1303	c.329G>T	c.(328-330)tGc>tTc	p.C110F	FBN2_ENST00000508989.1_Missense_Mutation_p.C110F|FBN2_ENST00000262464.4_Missense_Mutation_p.C110F			P35556	FBN2_HUMAN	fibrillin 2	110					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGGACAATGCACTGGTTTCC	0.607000													4	28					0.014758	0.0158251	1	1	0
PDZD9	255762	broad.mit.edu	37	16	21995933	21995933	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:21995933A>C	ENST00000286143.6	-	5	585	c.264T>G	c.(262-264)agT>agG	p.S88R	PDZD9_ENST00000424898.2_Missense_Mutation_p.S150R|PDZD9_ENST00000537222.2_Missense_Mutation_p.S90R			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	150	PDZ.									breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CATTATCATCACTGCTTGTGA	0.333000													8	54					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179882	166179882	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:166179882C>T	ENST00000357398.3	+	12	2178	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R630C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R630C|SCN2A_ENST00000375437.2_Missense_Mutation_p.R630C			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	630					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCAGGCCAGCCGTGCCTCCAG	0.602000													6	48					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8870254	8870254	+	Silent	SNP	G	G	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:8870254G>T	ENST00000396600.2	+	14	2114	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L	ABAT_ENST00000567812.1_Silent_p.L407L|ABAT_ENST00000425191.2_Silent_p.L392L|ABAT_ENST00000268251.8_Silent_p.L392L|ABAT_ENST00000569156.1_Silent_p.L392L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	392					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACCTGTTGCTGGCTGAGGTCA	0.577000													11	75					0.000978159	0.00112538	1	1	0
WDR3	10885	broad.mit.edu	37	1	118495239	118495239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:118495239delG	ENST00000349139.4	+	19	2152	c.2105delG	c.(2104-2106)tgfs	p.W702fs		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	702						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTGAGACTTTGGGAGAGAACA	0.458													26	147	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	15	---	---	---	---					
KCNH1	3756	broad.mit.edu	37	1	211093240	211093240	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr1:211093240delC	ENST00000367007.4	-	7	1292	c.1123delG	c.(1123-1125)acfs	p.D375fs	KCNH1_ENST00000271751.4_Frame_Shift_Del_p.D402fs	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	402					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATCTCATAGTCCCCAATGCTG	0.527													33	138	---	---	---	---					
MYO7B	4648	broad.mit.edu	37	2	128351195	128351195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:128351195delG	ENST00000389524.4	+	18	2273	c.2220delG	c.(2218-2220)gcfs	p.A740fs	MYO7B_ENST00000428314.1_Frame_Shift_Del_p.A740fs|MYO7B_ENST00000409816.2_Frame_Shift_Del_p.A740fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	740						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTGGAAAGCGGGGAAGACAA	0.607													20	88	---	---	---	---					
FSIP2	401024	broad.mit.edu	37	2	186673508	186673508	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:186673508delC	ENST00000343098.5	+	17	19742	c.19742delC	c.(19741-19743)gcfs	p.A6581fs	FSIP2_ENST00000424728.1_Frame_Shift_Del_p.A6492fs	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTTCAAAAGGCCCAAGAACAT	0.323													9	105	---	---	---	---					
COL6A3	1293	broad.mit.edu	37	2	238280505	238280505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr2:238280505delG	ENST00000295550.4	-	9	4607	c.4155delC	c.(4153-4155)ccfs	p.P1385fs	COL6A3_ENST00000472056.1_Frame_Shift_Del_p.P778fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.P1179fs|COL6A3_ENST00000353578.4_Frame_Shift_Del_p.P1179fs|COL6A3_ENST00000392004.3_Frame_Shift_Del_p.P1179fs|COL6A3_ENST00000392003.2_Frame_Shift_Del_p.P978fs|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.P1184fs|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.P1185fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1385	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACACATATTCGGGGCTCAGCG	0.617													12	74	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122865078	122865080	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:122865078_122865080delAAG	ENST00000316218.7	+	13	1209_1211	c.1114_1116delAAG	c.(1114-1116)del	p.K374del	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	374	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GCTCAGGACAAAGAAGAAGTTTC	0.478													12	159	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													3	3	---	---	---	---					
MMRN1	22915	broad.mit.edu	37	4	90816308	90816308	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr4:90816308delG	ENST00000394980.1	+	2	505	c.186delG	c.(184-186)tcfs	p.S62fs	MMRN1_ENST00000394981.1_Frame_Shift_Del_p.S62fs|MMRN1_ENST00000264790.2_Frame_Shift_Del_p.S62fs			Q13201	MMRN1_HUMAN	multimerin 1	62					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGGTCATGTCGGCGGAGATAG	0.468													17	73	---	---	---	---					
SPINK5	11005	broad.mit.edu	37	5	147493975	147493976	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:147493975_147493976delCA	ENST00000359874.3	+	21	2011_2012	c.1938_1939delCA	c.(1936-1941)tgcafs	p.CT646fs	SPINK5_ENST00000398454.1_Frame_Shift_Del_p.CT646fs|SPINK5_ENST00000256084.7_Frame_Shift_Del_p.CT646fs	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	646	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.C646*(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTTTTCTGCACAAGAGAAAA	0.426													8	73	---	---	---	---					
OR2V1	26693	broad.mit.edu	37	5	180552202	180552202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr5:180552202delC	ENST00000329365.2	-	1	102	c.103delG	c.(103-105)tcfs	p.V35fs		NM_001258283.1	NP_001245212.1			olfactory receptor, family 2, subfamily V, member 1											lung(4)	4						ACTGTGAAGACCACCATAACT	0.537													13	90	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759312	6759312	+	RNA	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:6759312delC	ENST00000486256.1	+	0	346					NR_002217.1																						TTGTCCCAGGCCAGGAATCTT	0.532													31	222	---	---	---	---					
CCDC129	223075	broad.mit.edu	37	7	31682724	31682725	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:31682724_31682725delTG	ENST00000319386.3	+	11	2289_2290	c.1296_1297delTG	c.(1294-1299)tttgfs	p.FV432fs	CCDC129_ENST00000407970.3_Frame_Shift_Del_p.FV580fs|CCDC129_ENST00000451887.2_Frame_Shift_Del_p.FV606fs|CCDC129_ENST00000409210.1_Frame_Shift_Del_p.FV488fs			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	580										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGACAGTTTTGTGAGGCCTGA	0.485													35	216	---	---	---	---					
HECW1	23072	broad.mit.edu	37	7	43351506	43351507	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:43351506_43351507insT	ENST00000395891.1	+	4	777_778	c.172_173insT	c.(172-174)cgafs	p.R58fs	HECW1_ENST00000453890.1_Frame_Shift_Ins_p.R58fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGCGGCCCCCACGATGGCGTC	0.629													11	72	---	---	---	---					
TFPI2	7980	broad.mit.edu	37	7	93518518	93518518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:93518518delG	ENST00000222543.5	-	3	601	c.289delC	c.(289-291)ggfs	p.R97fs	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	97	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ACTTGCAGCCGGCAAACTTTG	0.403													32	91	---	---	---	---					
SND1	27044	broad.mit.edu	37	7	127729633	127729633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:127729633delC	ENST00000354725.3	+	22	2705	c.2511delC	c.(2509-2511)tgfs	p.C837fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	837					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GTGCCGGCTGCCCCCATGTCA	0.602													12	52	---	---	---	---					
CNTNAP2	26047	broad.mit.edu	37	7	146997236	146997237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr7:146997236_146997237insT	ENST00000361727.3	+	9	1868_1869	c.1352_1353insT	c.(1351-1353)tggfs	p.W451fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	451	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACCAGGTTCTGGGTTGAATG	0.371										HNSCC(39;0.1)			15	133	---	---	---	---					
PIWIL2	55124	broad.mit.edu	37	8	22212876	22212877	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:22212876_22212877delTG	ENST00000356766.6	+	23	2928_2929	c.2780_2781delTG	c.(2779-2781)cfs	p.L927fs	PIWIL2_ENST00000454009.2_Frame_Shift_Del_p.L927fs|PIWIL2_ENST00000521356.1_Frame_Shift_Del_p.L891fs	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	927	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ACTTTCAAACTGTGCCACATGT	0.455													10	71	---	---	---	---					
NRG1	3084	broad.mit.edu	37	8	32621339	32621339	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:32621339delC	ENST00000338921.4	+	13	1883	c.1366delC	c.(1366-1368)ccfs	p.P457fs	NRG1_ENST00000287840.5_Frame_Shift_Del_p.P449fs|NRG1_ENST00000287842.3_Frame_Shift_Del_p.P446fs|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287845.5_Frame_Shift_Del_p.P420fs|NRG1_ENST00000519301.1_Frame_Shift_Del_p.P399fs|NRG1_ENST00000356819.4_Frame_Shift_Del_p.P454fs|NRG1_ENST00000405005.2_Frame_Shift_Del_p.P449fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Frame_Shift_Del_p.P292fs			Q02297	NRG1_HUMAN	neuregulin 1	449					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCCCAAATCGCCCCCTTCGGA	0.557													16	98	---	---	---	---					
STMN2	11075	broad.mit.edu	37	8	80553740	80553740	+	Frame_Shift_Del	DEL	G	G	-	rs73256023	by1000genomes	TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:80553740delG	ENST00000220876.7	+	3	625	c.243delG	c.(241-243)ctfs	p.L81fs	STMN2_ENST00000518491.1_Frame_Shift_Del_p.L70fs|STMN2_ENST00000518111.1_Frame_Shift_Del_p.L81fs	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	81	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACCTGTCCCTGGAGGAGATCC	0.507													10	66	---	---	---	---					
RIMS2	9699	broad.mit.edu	37	8	104831779	104831779	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:104831779delC	ENST00000507740.1	+	1	280	c.44delC	c.(43-45)ttfs	p.S15fs	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Frame_Shift_Del_p.S15fs	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1007					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGTTTTATCTCATTTTCAT	0.358										HNSCC(12;0.0054)			12	80	---	---	---	---					
DCSTAMP	81501	broad.mit.edu	37	8	105361774	105361774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:105361774delC	ENST00000297581.2	+	2	1043	c.994delC	c.(994-996)cafs	p.P332fs	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	332					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCAAAGCTTGCCAGGGTTTGA	0.483													27	213	---	---	---	---					
OC90	729330	broad.mit.edu	37	8	133041324	133041324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:133041324delG	ENST00000262283.5	-	17	1869	c.1770delC	c.(1768-1770)ccfs	p.P590fs	OC90_ENST00000603859.1_Frame_Shift_Del_p.P378fs|OC90_ENST00000254627.3_Frame_Shift_Del_p.P378fs|OC90_ENST00000443356.2_Frame_Shift_Del_p.P394fs			Q02509	OC90_HUMAN	otoconin 90	394					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTTACACTTGGGCGTATGAT	0.507													17	103	---	---	---	---					
GSDMD	79792	broad.mit.edu	37	8	144643223	144643223	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr8:144643223delG	ENST00000526406.1	+	8	1514	c.631delG	c.(631-633)gcfs	p.G211fs	GSDMD_ENST00000262580.4_Frame_Shift_Del_p.G211fs|GSDMD_ENST00000533063.1_Frame_Shift_Del_p.G259fs	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	211										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CATCCCCTCAGGCAGCACCCT	0.662													7	46	---	---	---	---					
FRMPD1	22844	broad.mit.edu	37	9	37732318	37732318	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:37732318delC	ENST00000539465.1	+	10	1469	c.876delC	c.(874-876)ctfs	p.L292fs	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Frame_Shift_Del_p.L114fs|FRMPD1_ENST00000377765.3_Frame_Shift_Del_p.L292fs|FRMPD1_ENST00000541302.1_Frame_Shift_Del_p.L161fs			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	292	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCGATGTGCTCCAGGAGCGCT	0.527													15	55	---	---	---	---					
FAM102A	399665	broad.mit.edu	37	9	130716108	130716108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr9:130716108delA	ENST00000373095.1	-	2	618	c.243delT	c.(241-243)tgfs	p.C81fs		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	81										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CACGGAAGACACAGGGGTCCA	0.632													7	124	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52575856	52575856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:52575856delG	ENST00000395489.2	-	11	1426	c.1030delC	c.(1030-1032)agfs	p.Q344fs	A1CF_ENST00000282641.2_Frame_Shift_Del_p.Q351fs|A1CF_ENST00000374001.1_Frame_Shift_Del_p.Q351fs|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373995.3_Frame_Shift_Del_p.Q359fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.Q296fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.Q351fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.Q351fs|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	351					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCATAGGTCTGGGGGGCATAG	0.517													13	61	---	---	---	---					
CTBP2	1488	broad.mit.edu	37	10	126714996	126714996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr10:126714996delA	ENST00000309035.6	-	1	1463	c.1333delT	c.(1333-1335)gcfs	p.C445fs	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTCAGGGCGCAAGGGGTGGGA	0.677													7	32	---	---	---	---					
RTN4RL2	349667	broad.mit.edu	37	11	57243949	57243949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:57243949delC	ENST00000335099.3	+	3	1145	c.828delC	c.(826-828)ttfs	p.F276fs		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	276	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGGCCTGGTTCCAGCGCGCGC	0.766													2	4	---	---	---	---					
MS4A1	931	broad.mit.edu	37	11	60233596	60233596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:60233596delC	ENST00000534668.1	+	5	828	c.539delC	c.(538-540)acfs	p.T180fs	MS4A1_ENST00000389939.2_Frame_Shift_Del_p.T180fs|MS4A1_ENST00000345732.4_Frame_Shift_Del_p.T180fs|MS4A1_ENST00000532073.1_Frame_Shift_Del_p.T180fs|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	180					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCCATCTACCCAATACTGT	0.373													19	129	---	---	---	---					
GUCY1A2	2977	broad.mit.edu	37	11	106680934	106680934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:106680934delG	ENST00000526355.1	-	5	1945	c.1477delC	c.(1477-1479)ttfs	p.L494fs	GUCY1A2_ENST00000347596.2_Frame_Shift_Del_p.L515fs|GUCY1A2_ENST00000282249.2_Frame_Shift_Del_p.L494fs	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	494					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GAATATAGAAGATCCACTGTC	0.423													10	83	---	---	---	---					
CEP164	22897	broad.mit.edu	37	11	117232681	117232681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:117232681delC	ENST00000278935.3	+	6	671	c.524delC	c.(523-525)ttfs	p.S175fs		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	175	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCAGTGGAGTCTGGACGTCAG	0.562													14	135	---	---	---	---					
PKNOX2	63876	broad.mit.edu	37	11	125255455	125255455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr11:125255455delT	ENST00000298282.9	+	6	507	c.236delT	c.(235-237)ctfs	p.L79fs	PKNOX2_ENST00000542175.1_Frame_Shift_Del_p.L15fs|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	79						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AGGCACCCTCTTTTCCCGCTC	0.577													17	118	---	---	---	---					
MARS	4141	broad.mit.edu	37	12	57883715	57883716	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr12:57883715_57883716insC	ENST00000262027.5	+	5	585_586	c.451_452insC	c.(451-453)cctfs	p.P151fs	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	151	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TTTGTGGGGAGCCCTATACCCA	0.475													23	188	---	---	---	---					
CYFIP1	23191	broad.mit.edu	37	15	22925788	22925788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:22925788delG	ENST00000313077.7	+	2	131	c.6delG	c.(4-6)gcfs	p.A3fs	CYFIP1_ENST00000560848.1_Frame_Shift_Del_p.A3fs	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	3					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCAGGATGGCGGCCCAGGTGA	0.647													9	35	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73615880	73615881	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr15:73615880_73615881delGT	ENST00000261917.3	-	8	3546_3547	c.2553_2554delAC	c.(2551-2556)accgfs	p.TP851fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	851					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GATGAAGACGGTGTGTCCACCT	0.678													16	56	---	---	---	---					
CDH8	1006	broad.mit.edu	37	16	61935146	61935147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr16:61935146_61935147insA	ENST00000577390.1	-	3	1437_1438	c.483_484insT	c.(481-486)aaacaafs	p.KQ161fs	CDH8_ENST00000577730.1_Frame_Shift_Ins_p.KQ161fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.KQ161fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.KQ161fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	161	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGTGCATTGTCATTGATGTCTT	0.401													7	111	---	---	---	---					
ZNF287	57336	broad.mit.edu	37	17	16455578	16455578	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:16455578delC	ENST00000395824.1	-	6	2495	c.1878delG	c.(1876-1878)ggfs	p.G626fs	ZNF287_ENST00000395825.3_Frame_Shift_Del_p.G626fs			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	619					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGAATGCTTTCCCACACACAC	0.388													11	46	---	---	---	---					
SOCS7	30837	broad.mit.edu	37	17	36508663	36508665	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:36508663_36508665delAGC	ENST00000577233.1	+	1	536_538	c.536_538delAGC	c.(535-540)gag>g	p.EQ179del	SOCS7_ENST00000331159.5_In_Frame_Del_p.EQ179del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	179	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	p.Q187delQ(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AGTAGAGGGGagcagcagcagca	0.709													2	4	---	---	---	---					
TUBG1	7283	broad.mit.edu	37	17	40765028	40765028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:40765028delG	ENST00000251413.3	+	6	605	c.543delG	c.(541-543)gtfs	p.V183fs		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	183					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGAGCGATGTGGTGGTCCAGC	0.532													15	133	---	---	---	---					
ANKRD40	91369	broad.mit.edu	37	17	48777210	48777210	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:48777210delG	ENST00000285243.6	-	3	597	c.328delC	c.(328-330)agfs	p.Q110fs		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	110										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TTCTTCAGCTGGGGGAGGTTG	0.418													23	48	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71410815	71410815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr17:71410815delG	ENST00000392650.3	-	18	2452	c.2452delC	c.(2452-2454)agfs	p.Q818fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.Q818fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	818	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTGATGAACTGGGGGCTGGGG	0.602													17	58	---	---	---	---					
CD320	51293	broad.mit.edu	37	19	8367478	8367478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr19:8367478delC	ENST00000301458.5	-	5	782	c.718delG	c.(718-720)cafs	p.A240fs	CD320_ENST00000537716.2_Frame_Shift_Del_p.A198fs	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	240					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACCAGGCTTGCACTGAGCACC	0.627													11	56	---	---	---	---					
TMC2	117532	broad.mit.edu	37	20	2582872	2582872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr20:2582872delC	ENST00000358864.1	+	11	1353	c.1338delC	c.(1336-1338)tafs	p.Y446fs	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	446						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAAGTGGGTACCTCATTTACT	0.398													12	84	---	---	---	---					
RIPPLY3	53820	broad.mit.edu	37	21	38390322	38390322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chr21:38390322delC	ENST00000329553.2	+	4	598	c.388delC	c.(388-390)ccfs	p.P132fs	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		AGAGGAAGGACCCCCACCCCT	0.592													7	29	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140995492	140995492	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:140995492delG	ENST00000285879.4	+	4	2588	c.2302delG	c.(2302-2304)agfs	p.E768fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	768							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCCTGAGGGGCCTGC	0.537										HNSCC(15;0.026)			46	275	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	148068908	148068908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YQ-01A-11D-A25L-08	TCGA-NJ-A4YQ-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030AEFDC-9EE8-4740-85ED-8C380265437A	986B23FA-8DDD-45DA-A28B-97C5EA6F69CD	g.chrX:148068908delC	ENST00000370460.2	+	20	4114	c.3635delC	c.(3634-3636)tcfs	p.S1212fs	AFF2_ENST00000370457.5_Frame_Shift_Del_p.S1177fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.S1179fs|AFF2_ENST00000286437.5_Frame_Shift_Del_p.S853fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1212					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.S1212F(2)|p.S853F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACACTCCATCCCCAGTGTCT	0.547													26	112	---	---	---	---					
