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
MED16	10025	broad.mit.edu	37	19	879947	879947	+	Missense_Mutation	SNP	C	C	T	rs139117438	by1000genomes	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:879947C>T	uc002lqd.1	-	7	1494	c.1343G>A	c.(1342-1344)aGc>aAc	p.S448N	MED16_uc010drw.2_Missense_Mutation_p.S273N|MED16_uc002lqe.3_Missense_Mutation_p.S437N|MED16_uc002lqf.3_Missense_Mutation_p.S437N|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S437N|MED16_uc010xfx.1_Missense_Mutation_p.S293N|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	448					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.S448N(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCCCGTGGCTGTCAATCCC	0.667000													3	26					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60698058	60698058	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:60698058C>T	uc001nqi.3	+	4	1136	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	TMEM132A_uc001nqj.3_Missense_Mutation_p.R315C|TMEM132A_uc001nqk.3_Missense_Mutation_p.R328C|TMEM132A_uc001nql.1_Missense_Mutation_p.R328C	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	315						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAAGCTGGACCGCTTCAAGGG	0.637000													78	93					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406264	91406264	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:91406264C>T	uc001dnw.3	-	2	930	c.647G>A	c.(646-648)gGc>gAc	p.G216D	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.G216D	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TATTAAAGTGCCATCTGACTT	0.388000													4	140					0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27674019	27674019	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:27674019A>T	uc001bnw.2	+	2	496	c.299A>T	c.(298-300)gAc>gTc	p.D100V	SYTL1_uc001bnv.2_Missense_Mutation_p.D100V|SYTL1_uc001bnx.2_Missense_Mutation_p.D100V|SYTL1_uc009vsv.2_Missense_Mutation_p.D100V	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	100					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCGGCTCTGACCTTGTCCGA	0.642000													5	70					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20846359	20846359	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:20846359C>T	uc003ndd.2	+	8	859	c.692C>T	c.(691-693)gCc>gTc	p.A231V	CDKAL1_uc003nde.2_Missense_Mutation_p.A161V|CDKAL1_uc021ymk.1_Missense_Mutation_p.A231V	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	231					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGAAATTTGGCCAGTTATCCA	0.318000													3	39					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978112	45978112	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:45978112G>A	uc002zfj.1	-	0	532	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	163	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACACGGGGCGGCAGAGGAGG	0.697000													22	193					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616334	248616334	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:248616334T>C	uc001iek.1	+	0	236	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	79					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)			TGTATCACTGTCCCCAAGATG	0.522000													8	187					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107261	14107261	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:14107261C>G	uc001avi.3	+	7	3827	c.2971C>G	c.(2971-2973)Cct>Gct	p.P991A	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P991A|PRDM2_uc021ogk.1_Missense_Mutation_p.P754A|PRDM2_uc001avk.3_Missense_Mutation_p.P790A|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	991	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCCCTCCTTCCTACCGTACC	0.602000													8	114					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745858	19745858	+	Silent	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:19745858T>G	uc002nnd.3	-	15	1842	c.1725A>C	c.(1723-1725)atA>atC	p.I575I	GMIP_uc010xrb.2_Silent_p.I549I|GMIP_uc010xrc.2_Silent_p.I546I	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	575	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACGGTGTTCTATCTCAGCCG	0.582000													58	76					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35811941	35811941	+	Silent	SNP	C	C	T	rs143122195		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:35811941C>T	uc003anu.4	+	9	1417	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	MCM5_uc003anv.4_Silent_p.V398V|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Silent_p.V225V	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	441	MCM.				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|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTGGGGTCGTCTGTATTG	0.587000													7	349					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27372137	27372137	+	Splice_Site	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:27372137G>A	uc002don.3	+	10	1141	c.899_splice	c.e10+1	p.P300_splice	IL4R_uc002dop.4_Splice_Site_p.P285_splice|IL4R_uc010bxy.3_Splice_Site_p.P300_splice|IL4R_uc002doo.3_Splice_Site_p.P140_splice	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	300					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCAAGTGCCCGTATGTATCTG	0.547000													5	148					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109197	106109197	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:106109197A>G	uc004emo.3	+	15	2761	c.2596A>G	c.(2596-2598)Aca>Gca	p.T866A	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	866	EF-hand.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTTTATGGACATTCAGATT	0.368000													4	87					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206245	121206245	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:121206245G>A	uc003eee.4	-	15	5662	c.5533C>T	c.(5533-5535)Cgg>Tgg	p.R1845W	POLQ_uc003eed.3_Missense_Mutation_p.R1017W	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1845					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTTGCACCGCCACTCCTTA	0.383000								DNA polymerases (catalytic subunits)					4	47					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46124545	46124545	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:46124545C>T	uc010xxm.2	-	13	1718	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	EML2_uc002pcn.3_Missense_Mutation_p.G348R|EML2_uc002pcp.3_Missense_Mutation_p.G232R|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.G495R|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.G348R|EML2_uc010ekj.3_Silent_p.T314T	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	348					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGTGTGTCTCCGTGGCCCTCT	0.627000													35	63					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769304	88769304	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:88769304G>A	uc001kee.2	+	11	2499	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	432	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CGGTGGATCCGTTCCAAATAT	0.582000													8	162					0	0	1	0	0
SEPT11	55752	broad.mit.edu	37	4	77941664	77941664	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:77941664A>G	uc011cca.2	+	8	1176	c.824A>G	c.(823-825)gAa>gGa	p.E275G	SEPT11_uc010ijh.1_Missense_Mutation_p.E257G|SEPT11_uc003hkj.3_Missense_Mutation_p.E265G|SEPT11_uc003hkk.1_Missense_Mutation_p.E65G			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	265					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.R274*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GTTGAGAATGAAAATCATTGC	0.453000													8	75					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222801580	222801580	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:222801580A>G	uc001hnl.3	+	3	1027	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	MIA3_uc009xea.1_Missense_Mutation_p.K176E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	340					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAAGATATGAAAACTCCAGC	0.413000													33	41					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27190616	27190616	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:27190616G>A	uc011lno.2	+	8	1730	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	TEK_uc003zqi.4_Missense_Mutation_p.D473N|TEK_uc011lnp.2_Missense_Mutation_p.D326N|TEK_uc003zqj.1_Missense_Mutation_p.D407N	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	473	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTTTGGGGATGGACCAAT	0.433000													5	119					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117245848	117245848	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:117245848T>C	uc003pxm.3	+	14	1635	c.1572T>C	c.(1570-1572)atT>atC	p.I524I		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	524					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCATTTGATTCGAATGCTTC	0.388000													5	70					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62800561	62800561	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:62800561A>G	uc010ihh.3	+	10	2085	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	LPHN3_uc003hcq.4_Missense_Mutation_p.M638V|LPHN3_uc003hct.3_Missense_Mutation_p.M31V|LPHN3_uc003hcs.1_Missense_Mutation_p.M454V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	625					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTGTAGGCAATGGTCGAGAC	0.493000													3	24					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930540	68930540	+	Missense_Mutation	SNP	T	T	C	rs145412545		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:68930540T>C	uc003hdt.1	-	7	927	c.878A>G	c.(877-879)gAc>gGc	p.D293G	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron|SYT14L_uc010ihn.3_5'Flank|SYT14L_uc021xou.1_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	293	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAAAGCAATGTCATTTTCATT	0.378000													5	28					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982600	7982600	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:7982600C>T	uc010sgh.2	-	3	410	c.389G>A	c.(388-390)cGc>cAc	p.R130H	SLC2A14_uc001qtk.3_Missense_Mutation_p.R115H|SLC2A14_uc001qtl.3_Missense_Mutation_p.R92H|SLC2A14_uc001qtm.3_Missense_Mutation_p.R92H|SLC2A14_uc010sgg.2_Missense_Mutation_p.R6H|SLC2A14_uc001qtn.3_Missense_Mutation_p.R115H|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	115					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R115H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATTGAATTGCGCCTGTAAGG	0.458000													11	38					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32088575	32088575	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32088575G>A	uc003nzn.3	-	7	838	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.3_Silent_p.L266L|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Silent_p.L203L|ATF6B_uc011dph.2_Silent_p.L269L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	269					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGGACTGCAGAAGGACTGTG	0.627000													6	215					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:11485796T>C	uc021zzo.1	-	12	3208	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	THSD7A_uc021zzn.1_Missense_Mutation_p.K986E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	986	TSP type-1 10.					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)		CCTTGTACTTTCATTCCCAGC	0.433000										HNSCC(18;0.044)			19	121					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22913059G>A	uc001bfx.1	+	3	1035	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_uc001bfw.3_Missense_Mutation_p.A304T	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	304	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A304T(3)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657000													9	66					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988388	21988388	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:21988388C>T	uc002zve.3	+	2	243	c.150C>T	c.(148-150)tcC>tcT	p.S50S	CCDC116_uc011aih.1_Silent_p.S50S	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	50										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					ACCCACCATCCACATGTGGCA	0.607000													11	150					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812349	73812349	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:73812349G>A	uc004ebu.3	-	4	1091	c.801C>T	c.(799-801)caC>caT	p.H267H	RLIM_uc004ebw.3_Silent_p.H267H	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	267					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTCACATGGTGCCGGGTTC	0.438000													7	106					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42915623	42915623	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:42915623C>T	uc001chj.3	-	1	488	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	ZMYND12_uc010ojt.2_Silent_p.T20T	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	73						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCATGCTGCCGTTCTTCCTC	0.547000													4	61					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:195515435C>T	uc021xjp.1	-	1	3172	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1008	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582000													3	7					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694848	30694848	+	Silent	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:30694848T>G	uc003xil.3	-	2	7803	c.7803A>C	c.(7801-7803)atA>atC	p.I2601I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2601										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTAAGGGTTATATGCCCAG	0.383000													25	37					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995539	63995539	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:63995539G>T	uc003peh.3	-	2	317	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	LGSN_uc003pei.3_Missense_Mutation_p.L95I|LGSN_uc003pej.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	95					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACGCCGTGGAGGTCTGTTGCT	0.418000													15	24					9.16793e-09	9.46607e-09	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								13	19					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21306934	21306934	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:21306934T>C	uc001bec.3	-	4	474	c.218A>G	c.(217-219)cAt>cGt	p.H73R	EIF4G3_uc010odj.2_Missense_Mutation_p.H73R|EIF4G3_uc009vpz.3_Missense_Mutation_p.H73R|EIF4G3_uc001bef.3_Missense_Mutation_p.H73R|EIF4G3_uc001bee.3_Missense_Mutation_p.H80R|EIF4G3_uc001beg.3_Missense_Mutation_p.H73R|EIF4G3_uc010odk.2_Missense_Mutation_p.H73R|EIF4G3_uc001beh.3_Missense_Mutation_p.H84R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	73					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGGCCACTATGACGGTACTA	0.423000													4	14					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56348103	56348103	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:56348103T>C	uc001sir.3	-	10	2544	c.1881A>G	c.(1879-1881)gtA>gtG	p.V627V	PMEL_uc001siq.3_Silent_p.V634V|PMEL_uc010spx.2_Silent_p.V541V|PMEL_uc001sip.3_Silent_p.V627V	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	627					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAACTGGGGTACGGAGAAGT	0.532000													27	57					0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52877766	52877766	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52877766C>T	uc003dgc.4	-	5	720	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	TMEM110-MUSTN1_uc003dgb.4_5'Flank|TMEM110-MUSTN1_uc003dgd.3_Missense_Mutation_p.V197I	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		ATCAGCATGACGATGGCCAGC	0.517000													9	114					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22159014	22159014	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22159014G>A	uc009vqd.3	-	80	11224	c.11184C>T	c.(11182-11184)ggC>ggT	p.G3728G	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.G3727G	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3727	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCCCACGAGGCCGAAGGAGA	0.662000													46	33					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768649	31768649	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:31768649G>A	uc002yoa.3	+	0	258	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	82	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTACCGTCCCAGAACC	0.607000													13	114					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382767	80382767	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:80382767G>A	uc003kha.2	+	8	1435	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.R290H	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	462					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R462C(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACGTTCATCCGCCAAGGTAAG	0.547000													34	51					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72967828	72967828	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:72967828G>A	uc003xza.3	-	11	1547	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	458						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)	GTATTGATACGCCCATAACTT	0.413000													20	24					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90833188	90833188	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90833188A>G	uc003hst.3	+	2	908	c.837A>G	c.(835-837)aaA>aaG	p.K279K	MMRN1_uc010iku.3_Silent_p.K245K|MMRN1_uc011cds.2_Silent_p.K21K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	279	EMI.				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)		GTGGGCCGAAATGTCAACTAA	0.368000													13	10					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670829	3670829	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr20:3670829G>A	uc002wja.3	-	17	4674	c.4674C>T	c.(4672-4674)agC>agT	p.S1558S	SIGLEC1_uc002wiz.4_Silent_p.S1558S|SIGLEC1_uc002wjb.1_Silent_p.S197S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1558	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCGGCTCGCTGTCCACTC	0.652000													4	6					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395863	179395863	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:179395863A>G	uc021vsy.1	-	306	98000	c.97775T>C	c.(97774-97776)gTg>gCg	p.V32592A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V26287A|TTN_uc021vta.1_Missense_Mutation_p.V26220A|TTN_uc021vtb.1_Missense_Mutation_p.V26095A|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33519							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)			CAGCCAGGTCACAGTTGGTAC	0.512000													89	132					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645432	45645432	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45645432T>G	uc001wwd.4	+	13	3574	c.3475T>G	c.(3475-3477)Tta>Gta	p.L1159V	FANCM_uc010anf.3_Missense_Mutation_p.L1133V|FANCM_uc001wwe.4_Missense_Mutation_p.L695V|FANCM_uc010ang.3_Missense_Mutation_p.L373V	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1159					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGCGAATCTTTACCTGTGTC	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	106					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954585	38954585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:38954585G>A	uc002hvh.1	-	2	658	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	198	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.R198Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCCAGGACTCGCCGTAATCCG	0.498000													9	70					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013576	95013576	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:95013576C>T	uc002btj.3	+	19	2440	c.2375C>T	c.(2374-2376)aCg>aTg	p.T792M	MCTP2_uc010boj.3_Missense_Mutation_p.T521M|MCTP2_uc010bok.3_Missense_Mutation_p.T737M|MCTP2_uc002btl.3_Missense_Mutation_p.T380M	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	792					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.T792S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTAACTGGACGGTCCCCTTC	0.403000													41	45					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110804777	110804777	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr13:110804777G>A	uc001vqw.4	-	50	4954	c.4832C>T	c.(4831-4833)gCg>gTg	p.A1611V		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1611	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GATGAATGGCGCACTTCTAAA	0.582000													8	19					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792136	79792136	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:79792136A>G	uc003hlk.3	+	10	1597	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Silent_p.Q477Q|BMP2K_uc003hll.3_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	477	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		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						agcaacagcaacagcagcagc	0.507000													5	62					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238805	57238805	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:57238805G>A	uc002elb.3	+	1	513	c.235G>A	c.(235-237)Gac>Aac	p.D79N	RSPRY1_uc002elc.3_Missense_Mutation_p.D79N|RSPRY1_uc002eld.3_Missense_Mutation_p.D79N|RSPRY1_uc002ele.1_Missense_Mutation_p.D79N	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	79						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCAACCACGGGACCCTGTTCG	0.552000													5	99					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32362767	32362767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32362767G>A	uc003obg.1	-	5	1114	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	BTNL2_uc010jty.1_Nonsense_Mutation_p.Q95*|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Nonsense_Mutation_p.Q162*	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	372						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCATCTTCTTGCCCCTCCACA	0.547000													23	151					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656971	49656971	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:49656971G>A	uc002pmv.3	-	0	1711	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	508					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552000													12	36					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383207	39383207	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:39383207T>G	uc003jlx.3	-	9	1385	c.854A>C	c.(853-855)aAc>aCc	p.N285T	DAB2_uc003jlw.3_Missense_Mutation_p.N264T	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	285					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGAAAGAAGTTGAGATTGGC	0.468000													6	110					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33626884	33626884	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:33626884C>T	uc021ywr.1	+	5	839	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	205	MIR 2.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCGACAACGCCGGCTGCAAGG	0.632000													55	63					0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110551714	110551714	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:110551714G>A	uc001dyx.3	+	1	467	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	AHCYL1_uc010ovw.2_Missense_Mutation_p.R13Q|AHCYL1_uc021ork.1_Missense_Mutation_p.R13Q|AHCYL1_uc010ovx.2_Missense_Mutation_p.R13Q|AHCYL1_uc001dyy.3_Missense_Mutation_p.R13Q	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	60					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAAACTGGCCGAAGATCTTTG	0.433000													24	57					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117612	46117612	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:46117612T>C	uc002zfw.1	+	0	526	c.496T>C	c.(496-498)Tgc>Cgc	p.C166R	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	166	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TGTGCCTGTCTGCTCTGGGGC	0.637000													156	220					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553720	39553720	+	Silent	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:39553720G>C	uc002hwn.3	-	0	125	c.72C>G	c.(70-72)ccC>ccG	p.P24P	KRT31_uc010cxn.3_Silent_p.P24P	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	24	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)				TGTGGCAGCTGGGGGGCACGC	0.662000													32	47					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:29910693A>G	uc003nol.3	+	1	317	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.Q78R(4)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	58					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156916463	156916463	+	Silent	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:156916463G>C	uc001fqo.3	-	26	3605	c.2565C>G	c.(2563-2565)ctC>ctG	p.L855L	ARHGEF11_uc010phu.2_Silent_p.L271L|ARHGEF11_uc001fqn.3_Silent_p.L895L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	855	DH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCATGAAGAGCTGGAATC	0.522000													4	210					0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65429217	65429217	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:65429217T>C	uc010ron.2	-	3	449	c.309A>G	c.(307-309)ggA>ggG	p.G103G	RELA_uc001off.3_Silent_p.G92G|RELA_uc001ofh.3_Silent_p.G92G|RELA_uc001ofg.3_Silent_p.G92G|RELA_uc021qlq.1_Silent_p.G92G|RELA_uc009yqr.3_Silent_p.G39G|RELA_uc001ofe.2_Silent_p.G92G|RELA_uc009yqs.1_5'Flank	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	92	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|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|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCAGTCCTTTCCTACAAGCT	0.617000													14	78					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	557018	557018	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:557018C>T	uc001lpx.3	-	7	856	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	265										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCACTCCACGGTCTTGTGA	0.672000													9	4					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13764768	13764768	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:13764768G>A	uc001rbt.2	-	7	1850	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	557					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCCATACGTCAGCGCTGA	0.448000													4	128					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45403686	45403686	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45403686T>C	uc001wvq.3	-	2	1221	c.975A>G	c.(973-975)ggA>ggG	p.G325G	KLHL28_uc001wvr.3_Silent_p.G325G	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	325										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAACGCATATTCCAAATTCAT	0.373000													4	50					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10123119	10123119	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:10123119G>A	uc003buw.3	+	31	3273	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L	FANCD2_uc003bux.1_Silent_p.L1065L|FANCD2_uc003buy.1_Silent_p.L1065L|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_3'UTR	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1065					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATCAGAGGCTGCTGCAGATTT	0.418000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	153					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578191	7578191	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7578191A>G	uc002gim.2	-	5	852	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	TP53_uc002gig.1_Missense_Mutation_p.Y220H|TP53_uc002gih.3_Missense_Mutation_p.Y220H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88H|TP53_uc010cnf.1_Missense_Mutation_p.Y88H|TP53_uc002gii.1_Missense_Mutation_p.Y88H|TP53_uc010cni.1_Missense_Mutation_p.Y220H|TP53_uc010cnh.1_Missense_Mutation_p.Y220H|TP53_uc002gij.2_Missense_Mutation_p.Y220H|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127H|TP53_uc002gio.2_Missense_Mutation_p.Y88H|TP53_uc010vug.2_Missense_Mutation_p.Y181H|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(238)|p.Y220N(24)|p.Y220H(19)|p.?(11)|p.Y220S(10)|p.0?(8)|p.Y220D(5)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.S215fs*27(1)|p.Y220fs*1(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCGGCTCATAGGGCACCACC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	27					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22142614	22142614	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:22142614T>C	uc002zvn.3	-	5	1028	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	MAPK1_uc002zvo.3_Missense_Mutation_p.Y263C|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	263	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding	p.N262T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AGAAAGCAAATAGTTCCTAGC	0.338000													30	37					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101971660	101971660	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:101971660G>A	uc002bxa.2	-	4	833	c.519C>T	c.(517-519)ggC>ggT	p.G173G	PCSK6_uc010bpd.3_Silent_p.G44G|PCSK6_uc002bwy.3_Silent_p.G173G|PCSK6_uc010bpe.3_Silent_p.G170G|PCSK6_uc002bxb.2_Silent_p.G173G|PCSK6_uc002bxc.1_Silent_p.G173G|PCSK6_uc002bxd.1_Silent_p.G173G|PCSK6_uc002bxe.3_Silent_p.G173G|PCSK6_uc002bxg.1_Silent_p.G173G	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	174	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTCTTGTCGCCACAATGCT	0.552000													6	27					0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13988120	13988120	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:13988120C>G	uc002mxj.4	+	0	58	c.58C>G	c.(58-60)Ctg>Gtg	p.L20V		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	20					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTTAGGGCTCTGAGTGGGAA	0.617000													4	267					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56330861	56330861	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:56330861A>G	uc001sij.3	+	2	389	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	DGKA_uc009zoc.1_Missense_Mutation_p.Y42C|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Intron|DGKA_uc009zoe.1_Missense_Mutation_p.Y42C|DGKA_uc001sik.3_Missense_Mutation_p.Y42C|DGKA_uc001sil.3_Missense_Mutation_p.Y42C|DGKA_uc001sim.3_Missense_Mutation_p.Y42C|DGKA_uc001sin.3_Missense_Mutation_p.Y42C|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_5'UTR	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	42					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATGGCTAAATATGTCCAAGGA	0.448000													5	82					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045580	6045580	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:6045580T>G	uc003spl.3	-	1	193	c.106A>C	c.(106-108)Agc>Cgc	p.S36R	PMS2_uc003spj.3_5'Flank|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_Intron|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.S36R|PMS2_uc010ktf.2_Missense_Mutation_p.S36R	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	36					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACCGCAGTGCTTAGACTCAGT	0.433000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				63	210					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554824	52554824	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52554824G>T	uc003dej.3	+	54	5785	c.5711G>T	c.(5710-5712)aGc>aTc	p.S1904I	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1904					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAGGGCAGCCCTGAGGCC	0.652000													19	353					2.4624e-09	2.56331e-09	1	1	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	C	G	rs148702086	by1000genomes	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000													4	36					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607808	47607808	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:47607808G>C	uc001cqv.1	+	3	462	c.411G>C	c.(409-411)caG>caC	p.Q137H	CYP4A22_uc009vyo.3_Missense_Mutation_p.Q137H|CYP4A22_uc009vyp.3_Missense_Mutation_p.Q137H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	137						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAATGGGCAGACATGGTTCC	0.532000													33	49					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38184352	38184352	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:38184352C>T	uc009vvi.3	-	15	2979	c.2893G>A	c.(2893-2895)Gtg>Atg	p.V965M	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	965	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCGGCCACGGCCTCCAGG	0.667000													5	48					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857471	101857471	+	Silent	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:101857471T>A	uc022cbb.1	+	0	402	c.402T>A	c.(400-402)atT>atA	p.I134I	ARMCX5_uc004ejg.3_Silent_p.I134I|ARMCX5_uc022caw.1_Silent_p.I134I|ARMCX5_uc022cax.1_Silent_p.I134I|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Silent_p.I134I|ARMCX5_uc022cba.1_Silent_p.I134I|ARMCX5_uc004ejh.3_Silent_p.I134I	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	134							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCAAATATTAGGTCCTATG	0.463000													19	236					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144171327	144171327	+	Silent	SNP	A	A	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:144171327A>C	uc003qjs.3	+	3	476	c.369A>C	c.(367-369)ggA>ggC	p.G123G		NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	Homo sapiens LTV1 homolog (S. cerevisiae) (LTV1), mRNA.	123										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AAGATGTTGGATTGTTAAATA	0.313000													4	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:9089904G>A	uc002mkp.3	-	0	2115	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAATCTGCGGATGTCTCAG	0.582000													5	120					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	18					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113395856	113395856	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:113395856C>A	uc003ynu.3	-	36	6130	c.5971G>T	c.(5971-5973)Gat>Tat	p.D1991Y	CSMD3_uc003yns.3_Missense_Mutation_p.D1193Y|CSMD3_uc003ynt.3_Missense_Mutation_p.D1951Y|CSMD3_uc011lhx.2_Missense_Mutation_p.D1887Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1991	CUB 11.					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						TCCAGAGAATCCCAATTATGT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	48					0.0167234	0.0168561	1	1	0
CDH6	1004	broad.mit.edu	37	5	31297444	31297444	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:31297444A>T	uc003jhe.2	+	3	932	c.572A>T	c.(571-573)tAt>tTt	p.Y191F	CDH6_uc003jhd.2_Missense_Mutation_p.Y191F	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	191	Cadherin 2.				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						GATCCAACATATGGGAACAGT	0.363000													8	66					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077534	119077534	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:119077534C>A	uc004esh.3	-	0	202	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	12	Ser-rich.				Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CGAGGCCTCCCTATCCGGGCT	0.706000													3	45					0.115264	0.115264	1	1	0
CXCL5	6374	broad.mit.edu	37	4	74863731	74863731	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:74863731G>A	uc003hhk.3	-	2	442	c.324C>T	c.(322-324)gaC>gaT	p.D108D		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	108					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.D108D(2)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACAAGTACCCGTCCAAAATTT	0.388000													35	45					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609806	142609806	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:142609806G>A	uc003wby.1	-	12	1894	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	544					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)					TAGTTGGCAGGTGCATCAATA	0.493000													54	55					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816198	90816198	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90816198T>C	uc003hst.3	+	0	147	c.76T>C	c.(76-78)Tct>Cct	p.S26P	MMRN1_uc010iku.3_Missense_Mutation_p.S26P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	26					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)		CAGTAAGCATTCTTGGACTAT	0.428000													25	93					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130307	153130307	+	Silent	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:153130307G>T	uc004fjb.3	-	21	3123	c.3015C>A	c.(3013-3015)atC>atA	p.I1005I	L1CAM_uc004fjc.3_Silent_p.I1005I|L1CAM_uc010nuo.3_Silent_p.I1000I	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1005	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					CTTCCCGTACGATGGCTTCAC	0.632000													59	165					1.45723e-30	1.54223e-30	1	1	0
MED26	9441	broad.mit.edu	37	19	16689204	16689204	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:16689204G>A	uc002nen.1	-	1	350	c.89C>T	c.(88-90)gCg>gTg	p.A30V	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	30	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTCCAGCACCGCCACCATGTT	0.557000													30	42					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065196	189065196	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:189065196G>A	uc003izm.1	+	4	880	c.765G>A	c.(763-765)gaG>gaA	p.E255E	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	255					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAGGAGCGAGCCACTCTTGC	0.567000													5	28					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100910839	100910839	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:100910839T>A	uc010nnt.2	-	4	2545	c.1736A>T	c.(1735-1737)gAc>gTc	p.D579V	ARMCX2_uc004eid.2_Missense_Mutation_p.D579V|ARMCX2_uc004eie.3_Missense_Mutation_p.D579V|ARMCX2_uc004eif.3_Missense_Mutation_p.D579V|ARMCX2_uc004eig.3_Missense_Mutation_p.D579V|ARMCX2_uc022caq.1_Missense_Mutation_p.D579V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	579						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTGAGATTGTCATAGATAAT	0.358000													26	44					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956706	143956706	+	Silent	SNP	G	G	A	rs138706121		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:143956706G>A	uc010mey.3	-	8	1364	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	CYP11B1_uc010mex.3_Silent_p.L81L|CYP11B1_uc003yxh.3_Silent_p.L98L|CYP11B1_uc003yxi.3_Silent_p.L382L|CYP11B1_uc003yxj.3_Silent_p.L382L	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	382					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L382L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ACTCGCTCCAGAAACAGACCC	0.607000									Familial Hyperaldosteronism type I				4	25					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33311160	33311160	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:33311160A>G	uc003zsr.3	+	5	1586	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G	NFX1_uc011lnw.2_Missense_Mutation_p.E478G|NFX1_uc003zso.3_Missense_Mutation_p.E478G|NFX1_uc003zsp.2_Missense_Mutation_p.E478G|NFX1_uc010mjr.2_Missense_Mutation_p.E478G|NFX1_uc003zsq.3_Missense_Mutation_p.E478G	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	478					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAACATGTGAATGTGGACGA	0.413000													31	83					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	10					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430801	67430801	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:67430801A>G	uc001omr.3	-	9	1482	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	ALDH3B2_uc001oms.3_Missense_Mutation_p.L348P	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	348					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGGGCGAGCAGGCAGGTGCG	0.617000													26	34					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105098346	105098346	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:105098346T>A	uc010lji.3	-	15	1903	c.1895A>T	c.(1894-1896)gAt>gTt	p.D632V	PUS7_uc003vcx.3_Missense_Mutation_p.D626V|PUS7_uc003vcy.3_Missense_Mutation_p.D626V|PUS7_uc003vcz.1_Missense_Mutation_p.D626V	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	626					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TAGAGAAAAATCCATTTTCAG	0.458000													43	53					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027824	37027824	+	Silent	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:37027824G>T	uc004ddl.2	+	0	1393	c.1341G>T	c.(1339-1341)gtG>gtT	p.V447V		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	447										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTGGAGTGTCCCATCTCC	0.632000													55	74					5.57489e-27	5.85133e-27	1	1	0
SLC22A12	116085	broad.mit.edu	37	11	64360337	64360337	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:64360337C>T	uc001oam.1	+	1	1236	c.489C>T	c.(487-489)tgC>tgT	p.C163C	SLC22A12_uc009ypr.1_Silent_p.C163C|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.C163C|SLC22A12_uc001oan.1_Silent_p.C163C|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	163					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.A162T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGCTGCGTGCGGCCCTGCCT	0.627000													5	100					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15554174	15554174	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:15554174T>C	uc002yjm.3	-	3	621	c.611A>G	c.(610-612)gAc>gGc	p.D204G	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.D183G|LIPI_uc021whh.1_Missense_Mutation_p.D183G|LIPI_uc021whi.1_Missense_Mutation_p.D18G|LIPI_uc021whj.1_Missense_Mutation_p.D183G|LIPI_uc021whe.1_Missense_Mutation_p.D183G|LIPI_uc021whf.1_Missense_Mutation_p.D183G	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	183					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCCAGCAGGGTCAAGACCTGG	0.403000													3	20					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510353	71510353	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:71510353C>T	uc011caw.1	+	8	3491	c.3210C>T	c.(3208-3210)acC>acT	p.T1070T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1070					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTCCACCACCGGAACTCCAT	0.448000													5	83					0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1268267	1268267	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:1268267C>G	uc002fsj.3	-	1	302	c.150G>C	c.(148-150)aaG>aaC	p.K50N	YWHAE_uc002fsk.3_Missense_Mutation_p.K28N|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	50					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	p.Y49C(1)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CAATCACATTCTTATATGCAA	0.423000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						4	84					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070184	141070184	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:141070184G>A	uc010ncq.3	+	3	1264	c.424G>A	c.(424-426)Ggg>Agg	p.G142R						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		GGCGAGGACTGGGGTGCGGCT	0.642000													16	61					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72163701	72163701	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:72163701A>G	uc001dfw.3	-	3	885	c.657T>C	c.(655-657)gtT>gtC	p.V219V	NEGR1_uc001dfv.3_Silent_p.V91V|NEGR1_uc010oqs.2_Intron	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	219	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGTTGACAACAACTTTTACTT	0.348000													16	16					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629810	187629810	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:187629810G>A	uc003izf.3	-	1	1360	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	FAT1_uc010iso.1_Missense_Mutation_p.A391V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	391	Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGAATGGCCTTTACCAT	0.388000										HNSCC(5;0.00058)			12	78					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24531941	24531941	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:24531941G>C	uc001wlj.2	+	28	2749	c.2592G>C	c.(2590-2592)agG>agC	p.R864S	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	864										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCAGCTAAGGACGCTGTCAG	0.627000													37	38					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28491947	28491947	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:28491947G>A	uc001zbj.3	-	21	3438	c.3332C>T	c.(3331-3333)gCt>gTt	p.A1111V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1111					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGGTAGAAGCAATGCTGGC	0.507000													35	46					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:220364615C>T	uc010puk.1	-	13	1446	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A428T|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A8T	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	428					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A428T(4)|p.D427N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.468000													9	13					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44132737	44132737	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:44132737T>C	uc001cjx.3	+	7	1056	c.890T>C	c.(889-891)aTt>aCt	p.I297T	KDM4A_uc010oki.2_Missense_Mutation_p.I297T	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	297	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGTCGGTGGATTGAGTACGGC	0.443000													4	79					0	0	1	0	0
RGMB	285704	broad.mit.edu	37	5	98129390	98129390	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:98129390C>G	uc003knc.3	+	4	1772	c.1370C>G	c.(1369-1371)cCc>cGc	p.P457R		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	416					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AATGGGACTCCCCGTGGAGGC	0.502000													13	11					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418191	48418191	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:48418191C>T	uc011mmb.1	+	5	993	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	TBC1D25_uc004dka.1_Missense_Mutation_p.H299Y|TBC1D25_uc011mly.1_Missense_Mutation_p.H241Y|TBC1D25_uc004dkb.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mlz.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mma.1_Missense_Mutation_p.H45Y|TBC1D25_uc004dkc.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mmd.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mmc.1_Missense_Mutation_p.H45Y	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	299	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGACCGGGCCCACCCCTACTA	0.632000													11	47					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133878164	133878164	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:133878164G>A	uc003eqc.1	-	14	1724	c.1626C>T	c.(1624-1626)taC>taT	p.Y542Y	RYK_uc003eqd.1_Silent_p.Y539Y	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	540	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CAATGTCCACGTAGGGAGTCT	0.488000													6	26					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101377773	101377773	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:101377773C>T	uc001dtn.2	+	4	677	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	SLC30A7_uc001dto.2_Missense_Mutation_p.H164Y	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	164	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	p.G163C(1)		endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		ACATGGAGGTCATGGACATTC	0.373000													5	128					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171300885	171300885	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:171300885A>G	uc001gho.3	+	5	808	c.591A>G	c.(589-591)ggA>ggG	p.G197G		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	197					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACACTGGAGGAGACATTGCTG	0.458000													5	136					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271146	1271146	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:1271146G>A	uc001lta.3	+	30	13095	c.13036G>A	c.(13036-13038)Gcc>Acc	p.A4346T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4346	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCGTGGCCACCATGTC	0.627000													22	160					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834572	61834572	+	Missense_Mutation	SNP	C	C	T	rs146929899	byFrequency	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:61834572C>T	uc001jky.3	-	36	6405	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2023					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGAGGCGGCTTTTGCT	0.418000													9	80					0	0	1	0	0
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													2	4	---	---	---	---					
NEUROG1	4762	broad.mit.edu	37	5	134871191	134871191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:134871191delC	uc003lax.3	-	0	449	c.190delG	c.(190-192)gcafs	p.A64fs		NM_006161	NP_006152	Q92886	NGN1_HUMAN	Homo sapiens neurogenin 1 (NEUROG1), mRNA.	64					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTCCTGTGCCCCTGGAACC	0.756													2	4	---	---	---	---					
FOXH1	8928	broad.mit.edu	37	8	145701110	145701110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:145701110delC	uc003zdc.3	-	0	609	c.30delG	c.(28-30)gggfs	p.G10fs		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	10					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|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			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCTGGGGGCCCCAGGCGGG	0.687													2	4	---	---	---	---					
POLR3A	11128	broad.mit.edu	37	10	79785474	79785474	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:79785474delT	uc001jzn.3	-	2	357	c.224delA	c.(223-225)aacfs	p.N75fs		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	75					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.N75Y(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCAGCCAAGTTTTTCCCACA	0.483													25	93	---	---	---	---					
TAOK1	57551	broad.mit.edu	37	17	27778575	27778578	+	Frame_Shift_Del	DEL	AACT	AACT	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:27778575_27778578delAACT	uc002hdz.2	+	1	203_206	c.9_12delAACT	c.(7-12)tcaactfs	p.S3fs	TAOK1_uc010wbe.2_Frame_Shift_Del_p.S3fs	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	3					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATGCCATCAACTAACAGAGCAG	0.446													16	28	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39922291	39922291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:39922291delT	uc004den.4	-	8	4173	c.3881delA	c.(3880-3882)aagfs	p.K1294fs	BCOR_uc004dep.4_Frame_Shift_Del_p.K1260fs|BCOR_uc004deo.4_Frame_Shift_Del_p.K1242fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.K2fs|BCOR_uc004dem.4_Frame_Shift_Del_p.K1260fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1294					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGAAAGACTCTTCATGGGCGG	0.592			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	5	---	---	---	---					
