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
UBL4B	164153	broad.mit.edu	37	1	110655410	110655410	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:110655410C>T	ENST00000334179.3	+	1	349	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	85						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCCACCAGCCGCAGACCCAG	0.577000													14	36					0	0	0.479597	0	0
LSG1	55341	broad.mit.edu	37	3	194392825	194392825	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:194392825G>A	ENST00000265245.5	-	1	381	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	23					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTCGGCTCCGCTGAGTCTGA	0.597000													13	24					0	0	0.479597	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329806	88329806	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:88329806C>T	ENST00000325089.6	+	2	2382	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G	SLITRK5_ENST00000400028.3_Silent_p.G480G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	721						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCGGCGGCGGCACGGGCG	0.652000													16	33					0	0	0.539581	0	0
ATP12A	479	broad.mit.edu	37	13	25266965	25266965	+	Silent	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:25266965A>G	ENST00000218548.6	+	10	1659	c.1326A>G	c.(1324-1326)ttA>ttG	p.L442L	ATP12A_ENST00000381946.3_Silent_p.L436L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	436					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGGCCTCCTTATCCAAGATAA	0.483000													57	147					0	0	0.870114	0	0
CASP8	841	broad.mit.edu	37	2	202149659	202149659	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:202149659A>G	ENST00000358485.4	+	8	1296	c.1100A>G	c.(1099-1101)gAc>gGc	p.D367G	CASP8_ENST00000323492.7_Missense_Mutation_p.D293G|CASP8_ENST00000432109.2_Missense_Mutation_p.D308G|CASP8_ENST00000264275.5_Missense_Mutation_p.D325G|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D224G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	308					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGTAACATGGACTGCTTCATC	0.468000										HNSCC(4;0.00038)			62	38					0	0	0.870114	0	0
SLC36A2	153201	broad.mit.edu	37	5	150723750	150723750	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:150723750G>A	ENST00000335244.4	-	2	372	c.243C>T	c.(241-243)aaC>aaT	p.N81N	SLC36A2_ENST00000521967.1_Silent_p.N81N	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	81					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATGCCCGCGTTCTTCACAG	0.547000													5	17					0	0	0.248553	0	0
MAP4	4134	broad.mit.edu	37	3	47912526	47912526	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:47912526G>A	ENST00000426837.2	-	15	6158	c.6071C>T	c.(6070-6072)gCc>gTc	p.A2024V	MAP4_ENST00000360240.6_Missense_Mutation_p.A879V|MAP4_ENST00000383737.4_Missense_Mutation_p.A607V|MAP4_ENST00000441748.2_Missense_Mutation_p.A31V|MAP4_ENST00000395734.3_Missense_Mutation_p.A879V|MAP4_ENST00000420772.2_Missense_Mutation_p.A610V|MAP4_ENST00000264724.11_Missense_Mutation_p.A614V			P27816	MAP4_HUMAN	microtubule-associated protein 4	879					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGCAGCGGGGGCTGTCCCACT	0.587000													18	41					0	0	0.520397	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204248	151204248	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151204248C>G	ENST00000409426.1	+	4	748	c.303C>G	c.(301-303)ttC>ttG	p.F101L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F101L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.F113L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F100L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	113	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCAAGATTTCTACGTGGTTG	0.483000													27	54					0	0	0.693898	0	0
CHM	1121	broad.mit.edu	37	X	85302517	85302517	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:85302517G>A	ENST00000357749.2	-	1	49	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000358786.4_Missense_Mutation_p.S7L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	7					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCAAACTCCGAAGGGAGAGT	0.468000													7	4					0	0	0.278610	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896334	151896334	+	RNA	SNP	G	G	A	rs2515828	by1000genomes	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:151896334G>A	ENST00000361201.4	-	0	396					NR_073432.1													p.P26P(2)		endometrium(2)|kidney(2)|lung(1)	5						GTTCCCTTCCGGGTTGTCTTG	0.527000													4	50					0	0	0.184627	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605930	84605930	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:84605930A>T	ENST00000344803.2	+	4	592	c.545A>T	c.(544-546)gAa>gTa	p.E182V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACCCCTCCAGAAGACCTAATA	0.547000													20	59					0	0	0.592651	0	0
ABCA2	20	broad.mit.edu	37	9	139912245	139912245	+	Silent	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139912245G>C	ENST00000265662.5	-	16	2352	c.2205C>G	c.(2203-2205)ctC>ctG	p.L735L	ABCA2_ENST00000371605.3_Silent_p.L734L|ABCA2_ENST00000341511.6_Silent_p.L735L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	734					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACCTCCTTGAGCCGGTGCT	0.692000													5	15					0	0	0.184627	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6524760	6524760	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:6524760C>G	ENST00000377782.3	-	4	382	c.315G>C	c.(313-315)gaG>gaC	p.E105D	TNFRSF25_ENST00000356876.3_Missense_Mutation_p.E105D|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.E105D|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.E60D	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	105					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAACAGTTCTCCAGCGCCA	0.607000													17	24					0	0	0.520397	0	0
FAM135B	51059	broad.mit.edu	37	8	139268962	139268962	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:139268962A>G	ENST00000395297.1	-	5	508	c.338T>C	c.(337-339)gTg>gCg	p.V113A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	113										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGCAGATCCACCTTGAGTTG	0.438000										HNSCC(54;0.14)			3	25					0	0	0.115264	0	0
OR5T1	390155	broad.mit.edu	37	11	56043262	56043262	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:56043262A>G	ENST00000313033.2	+	1	234	c.148A>G	c.(148-150)Act>Gct	p.T50A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T50P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTATCTATTCACTCTAATAGG	0.338000													19	49					0	0	0.557998	0	0
ANKRD1	27063	broad.mit.edu	37	10	92678707	92678707	+	Missense_Mutation	SNP	G	G	A	rs145387010		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:92678707G>A	ENST00000371697.3	-	4	616	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	123					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTCAGAAACGTAGGCACATC	0.368000													8	35					0	0	0.278610	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181917	81181917	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:81181917G>A	ENST00000394685.3	+	10	1489	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R357H|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R357H			Q8WUJ3	K1199_HUMAN	KIAA1199	357										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATATGCAATCGTCCCATTGAT	0.393000													13	41					0	0	0.435327	0	0
BUB1	699	broad.mit.edu	37	2	111419371	111419371	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:111419371C>T	ENST00000535254.1	-	9	1012	c.945G>A	c.(943-945)ctG>ctA	p.L315L	BUB1_ENST00000302759.6_Silent_p.L335L|BUB1_ENST00000409311.1_Silent_p.L335L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	335					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGCGCTCTCAGTTCCTGCT	0.453000													25	48					0	0	0.639603	0	0
SALL1	6299	broad.mit.edu	37	16	51175913	51175913	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:51175913C>T	ENST00000251020.4	-	2	253	c.220G>A	c.(220-222)Gta>Ata	p.V74I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	74					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTCATTTACGATTAAAACT	0.448000													27	57					0	0	0.667858	0	0
TRIM8	81603	broad.mit.edu	37	10	104416918	104416918	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:104416918C>T	ENST00000302424.6	+	6	1585	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	488						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGCCCTACCCCCGCTCCGGC	0.657000													10	26					0	0	0.335167	0	0
LINC00173	100287569	broad.mit.edu	37	12	116972499	116972499	+	RNA	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:116972499C>T	ENST00000480237.1	+	0	770					NR_027345.1																						GTACAACTGACAGTGCCATCA	0.443000													19	32					0	0	0.575678	0	0
GPBP1	65056	broad.mit.edu	37	5	56546873	56546873	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:56546873G>C	ENST00000424459.3	+	11	2399	c.1125G>C	c.(1123-1125)gaG>gaC	p.E375D	GPBP1_ENST00000514387.2_Missense_Mutation_p.E184D|GPBP1_ENST00000538707.1_Missense_Mutation_p.E362D|GPBP1_ENST00000511209.1_Missense_Mutation_p.E347D|GPBP1_ENST00000506184.2_Missense_Mutation_p.E355D|GPBP1_ENST00000454432.2_Missense_Mutation_p.E375D|GPBP1_ENST00000264779.6_Missense_Mutation_p.E362D	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCCTCAAGAGAATGGCAATG	0.398000													12	38					0	0	0.387290	0	0
FBP1	2203	broad.mit.edu	37	9	97369181	97369181	+	Silent	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:97369181A>G	ENST00000415431.1	-	6	850	c.621T>C	c.(619-621)ggT>ggC	p.G207G	FBP1_ENST00000375326.4_Silent_p.G207G	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	207					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGTAGATTTTACCTTTCTTTT	0.512000													39	45					0	0	0.819951	0	0
GAP43	2596	broad.mit.edu	37	3	115395076	115395076	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:115395076G>C	ENST00000393780.3	+	3	823	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	GAP43_ENST00000305124.6_Missense_Mutation_p.E83Q	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	83					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAAGAAGGGAGAAGGCACCAC	0.562000													10	21					0	0	0.335167	0	0
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251	by1000genomes	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582000													5	50					0	0	0.307466	0	0
KRT78	196374	broad.mit.edu	37	12	53238435	53238435	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:53238435C>G	ENST00000359499.4	-	5	510	c.499G>C	c.(499-501)Gac>Cac	p.D167H	KRT78_ENST00000304620.4_Missense_Mutation_p.D277H			Q8N1N4	K2C78_HUMAN	keratin 78	277	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGCTGAAGTCCAGGTAGCGG	0.627000													23	39					0	0	0.608945	0	0
NAA30	122830	broad.mit.edu	37	14	57857726	57857726	+	Silent	SNP	T	T	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:57857726T>G	ENST00000556492.1	+	2	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	17	Pro-rich.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CACCAGCACCTCCGGCCCCGG	0.721000													4	10					0	0	0.150653	0	0
MAP7	9053	broad.mit.edu	37	6	136687111	136687111	+	Silent	SNP	C	C	T	rs143331676	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:136687111C>T	ENST00000354570.3	-	10	1445	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000432797.2_Silent_p.P199P|MAP7_ENST00000544465.1_Silent_p.P330P|MAP7_ENST00000438100.2_Silent_p.P330P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGAGGATGTCGGTCTGGGTG	0.592000													15	42					0	0	0.520397	0	0
GUCD1	83606	broad.mit.edu	37	22	24943916	24943916	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:24943916C>A	ENST00000435822.1	-	3	578	c.254G>T	c.(253-255)tGt>tTt	p.C85F	GUCD1_ENST00000407471.3_Missense_Mutation_p.C85F|GUCD1_ENST00000447813.2_Missense_Mutation_p.C85F|GUCD1_ENST00000402766.1_Missense_Mutation_p.C85F|GUCD1_ENST00000404664.3_Missense_Mutation_p.C141F|GUCD1_ENST00000490922.1_5'UTR	NM_031444.2	NP_113632.2			guanylyl cyclase domain containing 1																		GGTCTGGGTACAGAAGCGGTG	0.602000													19	35					5.35267e-07	5.65853e-07	0.557998	1	0
KIAA1217	56243	broad.mit.edu	37	10	24834871	24834871	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:24834871C>T	ENST00000376454.3	+	21	5480	c.5450C>T	c.(5449-5451)tCt>tTt	p.S1817F	KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1248F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1138F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1223F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1817	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCTGCCCTCTTCTAGTGGT	0.512000													43	91					0	0	0.840704	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181438	128181438	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:128181438C>T	ENST00000469083.1	-	2	3208	c.651G>A	c.(649-651)tcG>tcA	p.S217S	DNAJB8_ENST00000319153.3_Silent_p.S217S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	217					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCACAGTCACCGACTTGAGCT	0.632000													28	67					0	0	0.750413	0	0
SLIT2	9353	broad.mit.edu	37	4	20258327	20258327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:20258327C>T	ENST00000504154.1	+	2	464	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SLIT2_ENST00000273739.5_Missense_Mutation_p.T71M|SLIT2_ENST00000503823.1_Missense_Mutation_p.T71M|SLIT2_ENST00000503837.1_Missense_Mutation_p.T71M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	71					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.T71M(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACAAGAATTACGAAGACAGAT	0.294000													14	28					0	0	0.500413	0	0
IRF6	3664	broad.mit.edu	37	1	209969813	209969813	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:209969813G>A	ENST00000367021.3	-	4	431	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	87					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTCTTATTGAGAGCACAGCGC	0.527000										HNSCC(57;0.16)			18	35					0	0	0.539581	0	0
PLEC	5339	broad.mit.edu	37	8	144992793	144992793	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:144992793G>A	ENST00000322810.4	-	32	11776	c.11607C>T	c.(11605-11607)ttC>ttT	p.F3869F	PLEC_ENST00000345136.3_Silent_p.F3732F|PLEC_ENST00000398774.2_Silent_p.F3700F|PLEC_ENST00000354958.2_Silent_p.F3710F|PLEC_ENST00000356346.3_Silent_p.F3718F|PLEC_ENST00000436759.2_Silent_p.F3759F|PLEC_ENST00000527096.1_Silent_p.F3755F|PLEC_ENST00000357649.2_Silent_p.F3736F|PLEC_ENST00000354589.3_Silent_p.F3732F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3869	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCCAGCAGGAAGCCTGTGG	0.672000													10	33					0	0	0.387290	0	0
RIMS1	22999	broad.mit.edu	37	6	72889449	72889449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:72889449C>T	ENST00000264839.7	+	5	643	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R215*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R215*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	215					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACTCCAAGAGCGATCGCGGTC	0.587000													12	40					0	0	0.435327	0	0
KIAA0101	9768	broad.mit.edu	37	15	64669065	64669065	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:64669065C>T	ENST00000300035.4	-	3	305	c.167G>A	c.(166-168)cGc>cAc	p.R56H	KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R29H|KIAA0101_ENST00000560234.1_Missense_Mutation_p.A57T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.R56H	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	56						mitochondrion|nucleus		p.R56P(1)		central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGAGTTGGGCGCACGCAAAC	0.393000													13	28					0	0	0.435327	0	0
ATP2B3	492	broad.mit.edu	37	X	152813447	152813447	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:152813447C>T	ENST00000370186.1	+	7	1397	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ATP2B3_ENST00000393842.1_Silent_p.I357I|ATP2B3_ENST00000359149.3_Silent_p.I371I|ATP2B3_ENST00000349466.2_Silent_p.I371I|ATP2B3_ENST00000263519.4_Silent_p.I371I|ATP2B3_ENST00000370181.2_Silent_p.I357I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	371					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGCAGATCGGGAAAGCAG	0.597000													12	22					0	0	0.411799	0	0
ZNF215	7762	broad.mit.edu	37	11	6977464	6977464	+	Missense_Mutation	SNP	G	G	A	rs139686178		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6977464G>A	ENST00000278319.5	+	7	1844	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	ZNF215_ENST00000414517.2_Missense_Mutation_p.R419H|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	419					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTCAACCGACGTACAAACCTT	0.408000													20	30					0	0	0.575678	0	0
IGSF1	3547	broad.mit.edu	37	X	130416550	130416550	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:130416550C>T	ENST00000370904.1	-	13	1997	c.1087G>A	c.(1087-1089)Gat>Aat	p.D363N	IGSF1_ENST00000370910.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D372N|IGSF1_ENST00000361420.3_Missense_Mutation_p.D372N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	372	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGTTGTCATCGATGCTGGTG	0.468000													38	28					0	0	0.804634	0	0
APOB	338	broad.mit.edu	37	2	21233458	21233458	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:21233458G>A	ENST00000233242.1	-	26	6409	c.6282C>T	c.(6280-6282)aaC>aaT	p.N2094N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2094	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTCTGTACGTTTTCCAGTA	0.363000													10	40					0	0	0.335167	0	0
FBXO21	23014	broad.mit.edu	37	12	117595803	117595803	+	Silent	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:117595803C>A	ENST00000427718.2	-	10	1466	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L	FBXO21_ENST00000330622.5_Silent_p.L471L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	471					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGTGCTGCACCAGGTAGCCCA	0.532000													61	166					1.08141e-31	1.19439e-31	0.870114	1	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			10	14					4.68919e-08	4.99281e-08	0.361761	1	0
BCAS1	8537	broad.mit.edu	37	20	52644969	52644969	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr20:52644969C>T	ENST00000395961.3	-	4	851	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	BCAS1_ENST00000371440.3_Missense_Mutation_p.G229S|BCAS1_ENST00000371435.2_Missense_Mutation_p.G229S|BCAS1_ENST00000411563.1_Missense_Mutation_p.G132S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	229						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGATAAGCCAGGAACCTCA	0.532000													52	144					0	0	0.870114	0	0
OR10A2	341276	broad.mit.edu	37	11	6891679	6891679	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6891679C>T	ENST00000307322.4	+	1	756	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCCTCACACCTCCTTGTTGT	0.423000													109	46					0	0	0.870114	0	0
TLN1	7094	broad.mit.edu	37	9	35720835	35720835	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:35720835C>T	ENST00000314888.9	-	11	1533	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	TLN1_ENST00000540444.1_Missense_Mutation_p.G394S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	394	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGATGTAGCCGGCAATGAGC	0.512000													9	95					0	0	0.411799	0	0
SPNS3	201305	broad.mit.edu	37	17	4351571	4351571	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:4351571G>A	ENST00000355530.2	+	6	1023	c.743G>A	c.(742-744)tGt>tAt	p.C248Y	SPNS3_ENST00000333476.2_Missense_Mutation_p.C121Y|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	248					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCAGCTGGTGTGAGGACGTC	0.612000													13	13					0	0	0.479597	0	0
AFAP1	60312	broad.mit.edu	37	4	7795475	7795475	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:7795475G>A	ENST00000420658.1	-	11	1617	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	AFAP1_ENST00000360265.4_Silent_p.L449L|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Silent_p.L449L|AFAP1_ENST00000358461.2_Silent_p.L449L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	449						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCATAGTGCAGAGCCTCCGGG	0.498000													23	74					0	0	0.624587	0	0
TRERF1	55809	broad.mit.edu	37	6	42224469	42224469	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:42224469C>T	ENST00000541110.1	-	12	3205	c.2637G>A	c.(2635-2637)gtG>gtA	p.V879V	TRERF1_ENST00000372917.4_Silent_p.V776V|TRERF1_ENST00000354325.2_Silent_p.V776V|TRERF1_ENST00000340840.2_Silent_p.V776V|TRERF1_ENST00000372922.4_Silent_p.V859V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	859	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTACCATCACATCACCTT	0.403000													14	37					0	0	0.479597	0	0
ADCY2	108	broad.mit.edu	37	5	7773108	7773108	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:7773108G>C	ENST00000338316.4	+	18	2367	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.E580Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	760					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTAAACTATGAGCTGAAGAT	0.502000													30	75					0	0	0.760397	0	0
CCDC180	100499483	broad.mit.edu	37	9	100071844	100071844	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:100071844G>A	ENST00000375202.2	+	17	1702	c.350G>A	c.(349-351)aGc>aAc	p.S117N	CCDC180_ENST00000395220.1_Missense_Mutation_p.S256N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.S117N|CCDC180_ENST00000411667.2_Missense_Mutation_p.S117N|CCDC180_ENST00000357054.1_Missense_Mutation_p.S256N					coiled-coil domain containing 180																		TGGATGCACAGCCTCCCCAAC	0.547000													13	38					0	0	0.457914	0	0
UBXN2A	165324	broad.mit.edu	37	2	24222567	24222567	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:24222567G>A	ENST00000309033.4	+	7	854	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E204K|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E151K	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	204	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AGACTTCATTGAAAAATACCA	0.363000													19	36					0	0	0.575678	0	0
OR6A2	8590	broad.mit.edu	37	11	6816910	6816910	+	Silent	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6816910C>G	ENST00000332601.3	-	1	218	c.30G>C	c.(28-30)gtG>gtC	p.V10V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAACTCACTCACTCTCCCAC	0.512000													13	41					0	0	0.457914	0	0
SHH	6469	broad.mit.edu	37	7	155599120	155599120	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:155599120G>A	ENST00000297261.2	-	2	582	c.432C>T	c.(430-432)cgC>cgT	p.R144R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	144			R -> P (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCACTGCGCGGCCCTCGT	0.642000													13	18					0	0	0.411799	0	0
IFT140	9742	broad.mit.edu	37	16	1657244	1657244	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1657244C>A	ENST00000426508.2	-	3	387	c.24G>T	c.(22-24)caG>caT	p.Q8H	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	8										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTTCTATCTGGTGGTCAT	0.488000													19	72					1.15919e-05	1.20817e-05	0.575678	1	0
PCDH7	5099	broad.mit.edu	37	4	30726069	30726069	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:30726069C>T	ENST00000361762.2	+	1	4033	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P1009S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1009					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAGCTTCATCCCCAGTCACC	0.507000													13	29					0	0	0.435327	0	0
ABCC8	6833	broad.mit.edu	37	11	17428294	17428294	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:17428294C>T	ENST00000302539.4	-	26	3332	c.3207G>A	c.(3205-3207)acG>acA	p.T1069T	ABCC8_ENST00000389817.3_Silent_p.T1068T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1068	ABC transmembrane type-1 2.			VL -> AV (in Ref. 1; AAB02278/AAB02417/ AAB02418).	carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGCAGAGCACCGTGAACACCA	0.602000													28	18					0	0	0.717897	0	0
BEND3	57673	broad.mit.edu	37	6	107390676	107390676	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:107390676G>A	ENST00000429433.2	-	5	2368	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	BEND3_ENST00000369042.1_Silent_p.F573F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	573	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCGCGAGGCGAAGTTGCCGA	0.637000													27	40					0	0	0.740014	0	0
CDH11	1009	broad.mit.edu	37	16	65006889	65006889	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:65006889C>T	ENST00000394156.3	-	9	1761	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CDH11_ENST00000268603.4_Silent_p.E436E|CDH11_ENST00000566827.1_Silent_p.E310E			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	436	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAAAACCATCCTCTGGATTAA	0.413000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	44					0	0	0.361761	0	0
SPHK2	56848	broad.mit.edu	37	19	49132292	49132292	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49132292G>A	ENST00000443164.1	+	5	2118	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	SPHK2_ENST00000599029.1_Silent_p.P373P|SPHK2_ENST00000245222.4_Silent_p.P409P|SPHK2_ENST00000599748.1_Silent_p.P373P|SPHK2_ENST00000340932.3_Silent_p.P371P|SPHK2_ENST00000600537.1_Silent_p.P350P|SPHK2_ENST00000598088.1_Silent_p.P409P			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	409					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		Acccagccccgcccatggccc	0.682000													8	22					0	0	0.278610	0	0
TULP2	7288	broad.mit.edu	37	19	49399725	49399725	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49399725C>T	ENST00000221399.3	-	4	317	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	58					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGACAAGAGCGCCAAAGCCA	0.637000													17	29					0	0	0.500413	0	0
TNKS	8658	broad.mit.edu	37	8	9564372	9564372	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:9564372G>A	ENST00000310430.6	+	8	1347	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	TNKS_ENST00000520408.1_Missense_Mutation_p.E441K|TNKS_ENST00000518281.1_Missense_Mutation_p.E204K|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	441					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCCACTGCACGAGGCTGCTTC	0.438000													20	66					0	0	0.608945	0	0
ZNF319	57567	broad.mit.edu	37	16	58031659	58031659	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:58031659C>T	ENST00000299237.2	-	2	1133	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TCCGCTGCCTCAGCTGGCTTG	0.622000													46	88					0	0	0.870114	0	0
ZNF532	55205	broad.mit.edu	37	18	56620896	56620896	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr18:56620896G>A	ENST00000336078.4	+	8	3791	c.3015G>A	c.(3013-3015)aaG>aaA	p.K1005K	ZNF532_ENST00000589288.1_Silent_p.K1005K|ZNF532_ENST00000591230.1_Silent_p.K1005K|ZNF532_ENST00000591808.1_Silent_p.K1005K|ZNF532_ENST00000591083.1_Silent_p.K1005K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATTGGAAAAGAAATCTCCAT	0.428000													24	49					0	0	0.624587	0	0
RBX1	9978	broad.mit.edu	37	22	41360103	41360103	+	Silent	SNP	C	C	T	rs142549819		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:41360103C>T	ENST00000216225.8	+	3	250	c.210C>T	c.(208-210)gtC>gtT	p.V70V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	70					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						AGTGTACTGTCGCATGGGGAG	0.468000													11	27					0	0	0.387290	0	0
CPSF2	53981	broad.mit.edu	37	14	92628079	92628079	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:92628079C>T	ENST00000298875.4	+	16	2625	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	780					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AACAATATGCCATTGTATAAA	0.338000													4	18					0	0	0.150653	0	0
MGEA5	10724	broad.mit.edu	37	10	103569963	103569963	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:103569963G>A	ENST00000361464.3	-	4	853	c.458C>T	c.(457-459)aCa>aTa	p.T153I	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.T153I|MGEA5_ENST00000439817.1_Missense_Mutation_p.T153I|MGEA5_ENST00000370094.3_Missense_Mutation_p.T153I	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	153					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACGTTTCAATGTGGATACTTC	0.373000													5	63					0	0	0.217242	0	0
XIRP2	129446	broad.mit.edu	37	2	168103818	168103818	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:168103818C>A	ENST00000409195.1	+	9	6005	c.5916C>A	c.(5914-5916)aaC>aaA	p.N1972K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1972K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1750K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1797					actin cytoskeleton organization	cell junction	actin binding	p.N1972K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGAGGAACAAAAATAGTC	0.458000													13	23					9.05144e-12	9.8501e-12	0.435327	1	0
DMRTC2	63946	broad.mit.edu	37	19	42351824	42351824	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:42351824C>T	ENST00000269945.3	+	3	296	c.245C>T	c.(244-246)gCt>gTt	p.A82V	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A82V	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	82					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGGGTCATGGCTGCCCAGGTG	0.592000													5	4					0	0	0.184627	0	0
ITIH5	80760	broad.mit.edu	37	10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587000													3	29					0	0	0.115264	0	0
HMCN1	83872	broad.mit.edu	37	1	185815164	185815164	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:185815164G>T	ENST00000271588.4	+	2	504	c.275G>T	c.(274-276)gGc>gTc	p.G92V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G92V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	92	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGAAATTGGCCCAGTGACA	0.368000													7	35					1.12685e-05	1.18279e-05	0.307466	1	0
CTNNA1	1495	broad.mit.edu	37	5	138260216	138260216	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:138260216G>C	ENST00000302763.7	+	12	1654	c.1564G>C	c.(1564-1566)Gat>Cat	p.D522H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.D522H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D419H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D152H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	522					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATTTTGGAAGATGTGAACAA	0.473000													5	17					0	0	0.217242	0	0
FAM149A	25854	broad.mit.edu	37	4	187086549	187086549	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:187086549C>A	ENST00000356371.5	+	11	1968	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	FAM149A_ENST00000514153.1_Missense_Mutation_p.S365R|FAM149A_ENST00000389354.5_Missense_Mutation_p.S365R|FAM149A_ENST00000502970.1_Missense_Mutation_p.S365R|FAM149A_ENST00000227065.4_Missense_Mutation_p.S365R|FAM149A_ENST00000503432.1_Missense_Mutation_p.S365R			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	656										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGTCACGGAGCAGGTTCCCCC	0.542000													10	33					6.40141e-05	6.62524e-05	0.387290	1	0
LEPR	3953	broad.mit.edu	37	1	66070790	66070790	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:66070790G>C	ENST00000349533.6	+	11	1658	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	LEPR_ENST00000371059.3_Missense_Mutation_p.Q491H|LEPR_ENST00000344610.8_Missense_Mutation_p.Q491H|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.Q491H|LEPR_ENST00000371060.3_Missense_Mutation_p.Q491H	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	491					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTATTTGCAGAGTGATGGTT	0.368000													25	61					0	0	0.681144	0	0
ZBTB43	23099	broad.mit.edu	37	9	129596134	129596134	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:129596134C>T	ENST00000373464.4	+	3	1610	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ZBTB43_ENST00000449886.1_Missense_Mutation_p.S449F|ZBTB43_ENST00000373457.1_Missense_Mutation_p.S449F	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CATGTGACTTCTTGTACTAAG	0.443000													37	127					0	0	0.834066	0	0
MIR509-2	100126301	broad.mit.edu	37	X	146340318	146340318	+	RNA	SNP	T	T	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:146340318T>A	ENST00000390724.1	-	0	50					NR_030586.1																						CCAATCATTTTTAATTATACA	0.453000													21	38					0	0	0.840704	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757863	106757863	+	RNA	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:106757863G>A	ENST00000390611.2	-	0	167																											TAGCATTGCTGAGTGAGAACC	0.557000													16	29					0	0	0.500413	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575163	47575163	+	Missense_Mutation	SNP	G	G	T	rs149041592		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:47575163G>T	ENST00000253048.5	-	13	2055	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	673	Pro-rich.						nucleic acid binding|zinc ion binding	p.P673L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGGCCGTAGGGCATCATTGG	0.607000													6	16					0.00116845	0.00117639	0.217242	1	0
PC	5091	broad.mit.edu	37	11	66618354	66618354	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:66618354A>G	ENST00000393960.1	-	18	2545	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P	PC_ENST00000393958.2_Missense_Mutation_p.L755P|PC_ENST00000393955.2_Missense_Mutation_p.L755P	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	755	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGAGCTGACCAGCATGGTGCA	0.662000													7	13					0	0	0.278610	0	0
DHX57	90957	broad.mit.edu	37	2	39065051	39065051	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:39065051C>T	ENST00000295373.6	-	13	2590	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	822							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTCAAAATCCATGATGGAC	0.358000													20	34					0	0	0.575678	0	0
NOS3	4846	broad.mit.edu	37	7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:150695737G>A	ENST00000297494.3	+	7	1142	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q|NOS3_ENST00000484524.1_Missense_Mutation_p.R262Q	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	262	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTCTGTGCGGGGGGACCCA	0.652000													3	8					0	0	0.115264	0	0
GPT2	84706	broad.mit.edu	37	16	46934667	46934667	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:46934667G>T	ENST00000440783.2	+	4	772	c.107G>T	c.(106-108)cGg>cTg	p.R36L	GPT2_ENST00000340124.4_Missense_Mutation_p.R136L	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	136					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAACGTGCCCGGCGGATCCTG	0.617000													11	25					2.80697e-09	3.01038e-09	0.387290	1	0
TTC21A	199223	broad.mit.edu	37	3	39178436	39178436	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:39178436C>T	ENST00000301819.6	+	24	3343	c.3166C>T	c.(3166-3168)Cgc>Tgc	p.R1056C	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1055C|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1007C	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1055							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAAGGCACGCAAGGACAG	0.547000													10	58					0	0	0.361761	0	0
CELF3	11189	broad.mit.edu	37	1	151688428	151688428	+	Silent	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151688428C>G	ENST00000290583.4	-	1	862	c.69G>C	c.(67-69)ctG>ctC	p.L23L	AL589765.1_ENST00000442233.2_Intron|RIIAD1_ENST00000326413.3_Intron|CELF3_ENST00000290585.4_Silent_p.L23L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	23	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGATGGGCTTCAGGTCCTTCT	0.597000													4	28					0	0	0.150653	0	0
BAI2	576	broad.mit.edu	37	1	32207757	32207757	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:32207757C>T	ENST00000373658.3	-	8	1655	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	BAI2_ENST00000398547.1_Silent_p.G371G|BAI2_ENST00000257070.4_Silent_p.G438G|BAI2_ENST00000398556.3_Silent_p.G386G|BAI2_ENST00000440175.2_Silent_p.G80G|BAI2_ENST00000398538.1_Silent_p.G426G|BAI2_ENST00000527361.1_Silent_p.G438G|BAI2_ENST00000373655.2_Silent_p.G438G|BAI2_ENST00000398542.1_Silent_p.G371G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	438	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGTTGGGTCCCATTGGCAC	0.662000													18	30					0	0	0.539581	0	0
OR1D2	4991	broad.mit.edu	37	17	2995717	2995717	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:2995717T>C	ENST00000331459.1	-	1	573	c.574A>G	c.(574-576)Att>Gtt	p.I192V		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	192					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TTAATCTGAATGTTGGAACAT	0.448000													14	39					0	0	0.457914	0	0
CADM3	57863	broad.mit.edu	37	1	159162470	159162470	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:159162470C>G	ENST00000368125.4	+	3	489	c.332C>G	c.(331-333)tCa>tGa	p.S111*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.S145*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	111	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TACACCTGCTCAATCTTCACT	0.537000													26	45					0	0	0.667858	0	0
ZNF382	84911	broad.mit.edu	37	19	37118156	37118156	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:37118156C>T	ENST00000435416.1	+	3	2849	c.1354C>T	c.(1354-1356)Ctc>Ttc	p.L452F	ZNF382_ENST00000292928.2_Missense_Mutation_p.L453F|ZNF382_ENST00000423582.1_Missense_Mutation_p.L404F|ZNF382_ENST00000439428.1_Missense_Mutation_p.L452F			Q96SR6	ZN382_HUMAN	zinc finger protein 382	453	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCCTCACTCTCCACCAGAG	0.453000													9	35					0	0	0.335167	0	0
TRIM27	5987	broad.mit.edu	37	6	28871933	28871933	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:28871933G>A	ENST00000377199.3	-	8	1812	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	486	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATGATCAGAGGAGCTGCACTT	0.522000			T	RET	papillary thyroid								22	69					0	0	0.608945	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934865	113934865	+	Silent	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:113934865G>T	ENST00000335953.4	+	2	1223	c.843G>T	c.(841-843)ggG>ggT	p.G281G	ZBTB16_ENST00000392996.2_Silent_p.G281G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	281					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGGGCCTGGGACCCCGACTC	0.647000													7	21					0.000274275	0.00027995	0.307466	1	0
TLL1	7092	broad.mit.edu	37	4	166929097	166929097	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:166929097C>G	ENST00000061240.2	+	7	1461	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	TLL1_ENST00000513213.1_Missense_Mutation_p.Q272E|TLL1_ENST00000507499.1_Missense_Mutation_p.Q272E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	272	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTTCTTAGGTCAAGAGTACAA	0.408000													17	39					0	0	0.539581	0	0
ILVBL	10994	broad.mit.edu	37	19	15230101	15230101	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:15230101C>G	ENST00000263383.3	-	9	1066	c.927G>C	c.(925-927)gaG>gaC	p.E309D	ILVBL_ENST00000534378.1_Missense_Mutation_p.E202D|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	309						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCAAGGTCTCCACGGCAG	0.672000													10	36					0	0	0.387290	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141370156	141370156	+	Silent	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:141370156C>G	ENST00000389328.4	-	9	1796	c.1782G>C	c.(1780-1782)tcG>tcC	p.S594S	TRAPPC9_ENST00000438773.2_Silent_p.S496S|TRAPPC9_ENST00000389327.3_Silent_p.S487S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	496					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACCCTGATCCGACAAGAAGT	0.498000													18	64					0	0	0.557998	0	0
DPYS	1807	broad.mit.edu	37	8	105393527	105393527	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:105393527G>C	ENST00000351513.2	-	9	1591	c.1459C>G	c.(1459-1461)Cct>Gct	p.P487A	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	487					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGCTCCACAGGGGTAGGTGTG	0.473000													13	53					0	0	0.500413	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825613	52825613	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:52825613G>C	ENST00000375511.3	-	2	886	c.134C>G	c.(133-135)aCa>aGa	p.T45R		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	45										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ATATTCTGATGTTTTCATCTT	0.393000													3	47					0	0	0.150653	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580934	99580934	+	RNA	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:99580934G>A	ENST00000425474.1	+	0	255					NR_036679.1																						AGGAGTAGAGGACTGGGAGAA	0.532000													7	16					0	0	0.248553	0	0
MRPL55	128308	broad.mit.edu	37	1	228295553	228295553	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:228295553G>A	ENST00000366731.5	-	5	945	c.152C>T	c.(151-153)aCc>aTc	p.T51I	MRPL55_ENST00000411464.2_Missense_Mutation_p.T15I|MRPL55_ENST00000366739.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366732.1_Missense_Mutation_p.T12I|MRPL55_ENST00000430433.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366741.1_Missense_Mutation_p.T15I|MRPL55_ENST00000295008.4_Missense_Mutation_p.T15I|MRPL55_ENST00000391867.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366736.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366742.1_Missense_Mutation_p.T15I|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366746.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366744.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366733.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366747.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366740.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366738.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366735.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366734.1_Missense_Mutation_p.T15I|MRPL55_ENST00000336300.5_Missense_Mutation_p.T15I|MRPL55_ENST00000336520.3_Missense_Mutation_p.T15I|MRPL55_ENST00000348259.5_Missense_Mutation_p.T15I			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	15					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GGCCTTCACGGTGCTCTGCCT	0.617000													9	26					0	0	0.307466	0	0
HECTD4	283450	broad.mit.edu	37	12	112602002	112602002	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:112602002G>A	ENST00000550722.1	-	73	12569	c.12174C>T	c.(12172-12174)agC>agT	p.S4058S	HECTD4_ENST00000430131.2_Silent_p.S3782S|HECTD4_ENST00000377560.5_Silent_p.S4032S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTTGTTGGGGCTGTCAGGGC	0.652000													16	33					0	0	0.500413	0	0
GCNT2	2651	broad.mit.edu	37	6	10556695	10556695	+	Silent	SNP	C	C	G	rs56147536		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:10556695C>G	ENST00000316170.3	+	1	456	c.39C>G	c.(37-39)gtC>gtG	p.V13V	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	14						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TAATTTCTGTCTCTAGTGTAA	0.393000													17	48					0	0	0.500413	0	0
EXT1	2131	broad.mit.edu	37	8	119123160	119123160	+	Silent	SNP	A	A	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:119123160A>T	ENST00000378204.2	-	1	932	c.126T>A	c.(124-126)ggT>ggA	p.G42G		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	42					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCATTCCTACCGCTGTGTT	0.562000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				7	30					0	0	0.248553	0	0
CGNL1	84952	broad.mit.edu	37	15	57731561	57731561	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:57731561C>T	ENST00000281282.5	+	2	1442	c.1364C>T	c.(1363-1365)tCa>tTa	p.S455L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	455	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CACGGGGCTTCATGTGCCCAC	0.622000													13	23					0	0	0.411799	0	0
OR2T33	391195	broad.mit.edu	37	1	248436971	248436971	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:248436971C>A	ENST00000318021.2	-	1	167	c.146G>T	c.(145-147)tGg>tTg	p.W49L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCGGTGGTCCCAGTGAATCAG	0.522000													18	49					1.30998e-17	1.43613e-17	0.812448	1	0
SNHG14	104472715	broad.mit.edu	37	15	25230200	25230200	+	RNA	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:25230200C>T	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TATTTTTTTACGTATTTTTAC	0.378000													13	20					0	0	0.411799	0	0
RGL4	266747	broad.mit.edu	37	22	24035110	24035110	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:24035110G>A	ENST00000290691.5	+	3	1798	c.628G>A	c.(628-630)Gag>Aag	p.E210K	GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E74K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	210	Pro-rich.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCAACCCAGTGAGGAGCTGCC	0.622000													8	31					0	0	0.278610	0	0
MUC2	4583	broad.mit.edu	37	11	1093601	1093601	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:1093601G>A	ENST00000441003.2	+	30	5447	c.5420G>A	c.(5419-5421)gGc>gAc	p.G1807D	MUC2_ENST00000359061.5_Missense_Mutation_p.1763_1763insD|MUC2_ENST00000333592.6_Missense_Mutation_p.G95D|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1803						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCCACCGGCACACAGACC	0.607000													3	23					0	0	0.115264	0	0
ESPNL	339768	broad.mit.edu	37	2	239040266	239040266	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:239040266C>G	ENST00000343063.3	+	9	3174	c.2911C>G	c.(2911-2913)Cgc>Ggc	p.R971G	ESPNL_ENST00000409506.1_Missense_Mutation_p.R603G|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.R927G	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	971										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGGGTCCCGCTCCCAGCA	0.652000													19	10					0	0	0.575678	0	0
MTUS2	23281	broad.mit.edu	37	13	29855999	29855999	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:29855999G>A	ENST00000431530.3	+	4	2891	c.2833G>A	c.(2833-2835)Gct>Act	p.A945T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	935	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCACACCCGCTGGTAAGAC	0.542000													16	43					0	0	0.539581	0	0
GYPA	2993	broad.mit.edu	37	4	145035857	145035857	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:145035857C>T	ENST00000360771.4	-	6	536	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	GYPA_ENST00000535709.1_Missense_Mutation_p.E115K|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	141					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTTTCTATTTCAACAGAACTT	0.353000													11	26					0	0	0.387290	0	0
PMPCA	23203	broad.mit.edu	37	9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139311437G>A	ENST00000371717.3	+	7	677	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562000													7	32					0	0	0.278610	0	0
ARID5B	84159	broad.mit.edu	37	10	63759861	63759861	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:63759861G>A	ENST00000279873.7	+	4	924	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	172					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGAGGACGAGGAAGAAACGAA	0.473000													8	22					0	0	0.278610	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453669	84453669	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:84453669C>T	ENST00000377084.2	-	1	2859	c.1974G>A	c.(1972-1974)gcG>gcA	p.A658A		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	658						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAATCTCGGACGCGGAGGAGT	0.552000													9	20					0	0	0.335167	0	0
BAIAP2	10458	broad.mit.edu	37	17	79073793	79073793	+	Silent	SNP	C	C	T	rs146015006	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:79073793C>T	ENST00000321300.6	+	7	648	c.555C>T	c.(553-555)acC>acT	p.T185T	BAIAP2_ENST00000575712.1_Silent_p.T185T|BAIAP2_ENST00000416299.2_Silent_p.T48T|BAIAP2_ENST00000392411.3_Silent_p.T107T|BAIAP2_ENST00000321280.7_Silent_p.T185T|BAIAP2_ENST00000575245.1_Silent_p.T218T|BAIAP2_ENST00000428708.2_Silent_p.T185T|BAIAP2_ENST00000435091.3_Silent_p.T185T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	185	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTACAAGACCGCACTGACAG	0.617000													3	39					0	0	0.115264	0	0
FAM47C	442444	broad.mit.edu	37	X	37026576	37026576	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:37026576G>A	ENST00000358047.3	+	1	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										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						AGTACTTCGCGAAGCGCAAGC	0.642000													12	10					0	0	0.411799	0	0
OR51I1	390063	broad.mit.edu	37	11	5462199	5462199	+	Silent	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:5462199G>C	ENST00000380211.1	-	1	545	c.546C>G	c.(544-546)ctC>ctG	p.L182L	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCTGGATGGAGACAGTAGG	0.433000													14	22					0	0	0.520397	0	0
CHST1	8534	broad.mit.edu	37	11	45671567	45671567	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:45671567C>T	ENST00000308064.2	-	4	1577	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	303					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCAGGTCCTCGTAGCGCACC	0.627000													35	23					0	0	0.769981	0	0
TTN	7273	broad.mit.edu	37	2	179529198	179529198	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179529198A>G	ENST00000589042.1	-	168	36493	c.36269T>C	c.(36268-36270)gTa>gCa	p.V12090A	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10239	Ig-like 80.						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)			TTTGACAGGTACAACTTCAGC	0.403000													33	72					0	0	0.840704	0	0
IWS1	55677	broad.mit.edu	37	2	128262665	128262665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:128262665G>A	ENST00000295321.4	-	3	1073	c.814C>T	c.(814-816)Cga>Tga	p.R272*	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.R279*	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	272	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTGATTCGGGGTTTGGGA	0.522000													75	153					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179482531	179482531	+	Silent	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179482531G>T	ENST00000589042.1	-	253	47771	c.47547C>A	c.(47545-47547)ccC>ccA	p.P15849P	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.P6909P|TTN_ENST00000342175.6_Silent_p.P6976P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P14208P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P13281P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P6784P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14208	Fibronectin type-III 15.						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)			CTTTGACGAAGGGTGTGGCTG	0.408000													4	58					0.000602214	0.000610464	0.184627	1	0
TMEM132C	92293	broad.mit.edu	37	12	128899814	128899814	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:128899814C>T	ENST00000435159.2	+	2	623	c.623C>T	c.(622-624)cCg>cTg	p.P208L		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	208						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTCAGTGCCCCGACGGTGGGT	0.657000													6	7					0	0	0.217242	0	0
ODF3L2	284451	broad.mit.edu	37	19	463990	463990	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:463990C>T	ENST00000315489.4	-	4	959	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A206T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	242	Pro-rich.									large_intestine(1)|lung(2)	3						GGGCAGTGGGCGCCAGGGCCG	0.711000													4	13					0	0	0.150653	0	0
HUWE1	10075	broad.mit.edu	37	X	53563194	53563194	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:53563194C>T	ENST00000342160.3	-	79	12902	c.12445G>A	c.(12445-12447)Gaa>Aaa	p.E4149K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4149K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4149	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTAATCTTCACTCTCCATA	0.448000													11	22					0	0	0.361761	0	0
LYST	1130	broad.mit.edu	37	1	235973499	235973499	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:235973499G>A	ENST00000389794.3	-	5	793	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	LYST_ENST00000536965.1_Missense_Mutation_p.R207C|LYST_ENST00000389793.2_Missense_Mutation_p.R207C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	207					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTTGCTAAGCGGTCAAGTTTA	0.413000													5	135					0	0	0.248553	0	0
OR6K2	81448	broad.mit.edu	37	1	158669812	158669812	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:158669812C>T	ENST00000359610.2	-	1	674	c.631G>A	c.(631-633)Gct>Act	p.A211T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGCATCACAGCTGTAATAATC	0.502000													19	42					0	0	0.539581	0	0
KRT14	3861	broad.mit.edu	37	17	39739633	39739633	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:39739633C>T	ENST00000167586.6	-	6	1214	c.1128G>A	c.(1126-1128)atG>atA	p.M376I		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	376	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCTGCCAATCATCTCCTGGA	0.597000													12	27					0	0	0.435327	0	0
OR1M1	125963	broad.mit.edu	37	19	9204511	9204511	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:9204511C>T	ENST00000429566.3	+	1	657	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGAATAGGATCTTCATCCTCA	0.567000													19	57					0	0	0.557998	0	0
TTN	7273	broad.mit.edu	37	2	179549471	179549471	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179549471C>T	ENST00000589042.1	-	131	32784	c.32560G>A	c.(32560-32562)Gaa>Aaa	p.E10854K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10537K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9610K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10537	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGCTCTTCTGGCACTTAA	0.388000													12	26					0	0	0.411799	0	0
HBP1	26959	broad.mit.edu	37	7	106826299	106826299	+	Missense_Mutation	SNP	G	G	A	rs151293151	by1000genomes	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:106826299G>A	ENST00000222574.4	+	4	638	c.452G>A	c.(451-453)cGc>cAc	p.R151H	HBP1_ENST00000485846.1_Missense_Mutation_p.R151H|HBP1_ENST00000468410.1_Missense_Mutation_p.R151H	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	151					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TCCTATGCACGCCCTCCACCA	0.423000													39	61					0	0	0.834066	0	0
EPHA3	2042	broad.mit.edu	37	3	89498433	89498433	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:89498433C>G	ENST00000336596.2	+	14	2630	c.2405C>G	c.(2404-2406)aCg>aGg	p.T802R	EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	802	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCAAGTTCACGTCAGCCAGC	0.438000										TSP Lung(6;0.00050)			25	71					0	0	0.681144	0	0
INHA	3623	broad.mit.edu	37	2	220439822	220439822	+	Silent	SNP	T	T	C	rs139608664	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:220439822T>C	ENST00000243786.2	+	2	855	c.675T>C	c.(673-675)agT>agC	p.S225S		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	225					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GACCACCCAGTGGAGGGGAGA	0.692000													26	13					0	0	0.693898	0	0
AXL	558	broad.mit.edu	37	19	41726662	41726662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:41726662G>A	ENST00000301178.4	+	2	397	c.207G>A	c.(205-207)tgG>tgA	p.W69*	AXL_ENST00000359092.3_Nonsense_Mutation_p.W69*|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	69	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGGTACATTGGCTTCGGGATG	0.627000													12	28					0	0	0.387290	0	0
NUBP2	10101	broad.mit.edu	37	16	1836869	1836869	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1836869C>T	ENST00000262302.9	+	3	367	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	NUBP2_ENST00000565134.1_Missense_Mutation_p.R83W|NUBP2_ENST00000543305.1_Intron|NUBP2_ENST00000568706.1_Intron|NUBP2_ENST00000565987.1_Missense_Mutation_p.R23W	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	83						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCCTGGACCGGGAGCAGAG	0.677000													8	29					0	0	0.307466	0	0
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	5	---	---	---	---					
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685632	72685633	+	RNA	INS	-	-	TAC			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:72685632_72685633insTAC	ENST00000425256.1	-	0	25_26					NR_002164.1																						CAGGGAGGTTTCACCTCACACA	0.490													16	36	---	---	---	---					
GTF2IRD2	84163	broad.mit.edu	37	7	74239555	74239556	+	In_Frame_Ins	INS	-	-	TAC			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:74239555_74239556insTAC	ENST00000405086.2	-	4	453_454	c.264_265insGTA	c.(262-267)gtaacc>gtGTAaacc	p.88_89VT>V*T	GTF2IRD2_ENST00000453619.2_In_Frame_Ins_p.88_89VT>V*T|GTF2IRD2_ENST00000361071.5_In_Frame_Ins_p.88_89VT>V*T	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						CAGGGAGGTTTCACCTCACACA	0.485													7	33	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92350418	92350418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:92350418delA	ENST00000276609.3	+	7	1075	c.836delA	c.(835-837)gafs	p.E279fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.E279fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.E279fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	279						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACCAATATGGAAAACACATAT	0.303													17	56	---	---	---	---					
SNHG1	23642	broad.mit.edu	37	11	62622801	62622804	+	RNA	DEL	AGAA	AGAA	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:62622801_62622804delAGAA	ENST00000384147.1	-	0	34_37					NR_002564.1																						CTAATCCATCAGAAAGAGAGAGTT	0.426													19	41	---	---	---	---					
ATP8B4	79895	broad.mit.edu	37	15	50190329	50190329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:50190329delC	ENST00000284509.6	-	22	2550	c.2409delG	c.(2407-2409)aafs	p.K804fs	ATP8B4_ENST00000559829.1_Frame_Shift_Del_p.K804fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	804					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K803K(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGTACTTCTTCACCAGCT	0.433													31	50	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													4	2	---	---	---	---					
C17orf104	284071	broad.mit.edu	37	17	42746783	42746783	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:42746783delA	ENST00000409122.2	+	6	2497	c.2355delA	c.(2353-2355)ggfs	p.G785fs	C17orf104_ENST00000409464.1_Frame_Shift_Del_p.G619fs|C17orf104_ENST00000359945.3_Frame_Shift_Del_p.G785fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	785										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATTATCCTGGAAAAAAAGTAT	0.353													2	4	---	---	---	---					
ZNF43	7594	broad.mit.edu	37	19	21992490	21992491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:21992490_21992491insT	ENST00000594012.1	-	7	844_845	c.330_331insA	c.(328-333)aaaccafs	p.P111fs	ZNF43_ENST00000598381.1_Frame_Shift_Ins_p.P111fs|ZNF43_ENST00000595461.1_Frame_Shift_Ins_p.P111fs|ZNF43_ENST00000354959.4_Frame_Shift_Ins_p.P117fs	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTTATGGTCTTTTTTTAAAT	0.351													18	55	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50113399	50113399	+	RNA	DEL	C	C	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:50113399delC	ENST00000376025.2	-	0	3795							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCTTCATGACCCCTCTGCCT	0.517													2	4	---	---	---	---					
ZXDA	7789	broad.mit.edu	37	X	57935195	57935196	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:57935195_57935196delAG	ENST00000358697.4	-	1	1871_1872	c.1659_1660delCT	c.(1657-1662)cttcfs	p.LF553fs		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	553	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTGGATGTGAAGAGTTTATTAC	0.485													10	24	---	---	---	---					
