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
ARID5B	84159	broad.mit.edu	37	10	63851924	63851924	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:63851924C>T	ENST00000279873.7	+	10	3112	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M	ARID5B_ENST00000309334.5_Missense_Mutation_p.T658M	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	901					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)					GAAGCCCCTACGGATGATCAG	0.552000													28	46					0	0	0.030593	0	0
TMOD4	29765	broad.mit.edu	37	1	151143016	151143016	+	Missense_Mutation	SNP	T	T	C	rs143662204	byFrequency	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:151143016T>C	ENST00000416280.2	-	7	886	c.787A>G	c.(787-789)Atg>Gtg	p.M263V				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	332					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	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;0.211)			TTTCGGGTCATGGCCTGGGCT	0.542000													6	123					0	0	0.021553	0	0
IQSEC3	440073	broad.mit.edu	37	12	247484	247484	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:247484G>A	ENST00000538872.1	+	4	1073	c.955G>A	c.(955-957)Gct>Act	p.A319T	IQSEC3_ENST00000326261.4_Missense_Mutation_p.A319T|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A16T|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	319	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGGCGCGCCGCTTGCACCAT	0.592000													8	128					0	0	0.047766	0	0
ZNF835	90485	broad.mit.edu	37	19	57175924	57175924	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr19:57175924C>T	ENST00000537055.2	-	2	874	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCGTGTGCACGCGCCGGTGC	0.716000													5	9					0	0	0.014758	0	0
CDK15	65061	broad.mit.edu	37	2	202700438	202700438	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:202700438C>T	ENST00000450471.2	+	8	889	c.803C>T	c.(802-804)cCt>cTt	p.P268L	CDK15_ENST00000260967.2_Missense_Mutation_p.P217L|CDK15_ENST00000434439.1_Missense_Mutation_p.P268L|CDK15_ENST00000410091.3_Missense_Mutation_p.P217L|CDK15_ENST00000374598.4_Missense_Mutation_p.P268L|CDK15_ENST00000488419.1_3'UTR	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	268	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TACCGGCCCCCTGATGCTTTG	0.522000													15	29					0	0	0.033300	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250616	140250616	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:140250616G>A	ENST00000398640.2	+	1	1928	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGCCGCGCCACCGACTT	0.687000													20	41					0	0	0.055883	0	0
MAP2	4133	broad.mit.edu	37	2	210594941	210594941	+	Silent	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:210594941T>A	ENST00000360351.4	+	15	5810	c.5304T>A	c.(5302-5304)gcT>gcA	p.A1768A	MAP2_ENST00000392194.1_Silent_p.A412A|MAP2_ENST00000199940.6_Silent_p.A500A|MAP2_ENST00000447185.1_Silent_p.A1764A|MAP2_ENST00000361559.4_Silent_p.A412A	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1768					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAGAGCATGCTAAAGCCCGTG	0.512000													9	17					0	0	0.058154	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													3	56					0	0	0.038147	0	0
COL11A1	1301	broad.mit.edu	37	1	103405905	103405905	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:103405905G>C	ENST00000358392.2	-	43	3715	c.3398C>G	c.(3397-3399)tCc>tGc	p.S1133C	COL11A1_ENST00000353414.4_Missense_Mutation_p.S1082C|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1121C|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1005C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1121	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCCAGGGGAGCCGGCAGG	0.473000													17	33					0	0	0.049695	0	0
OR5L1	219437	broad.mit.edu	37	11	55578997	55578997	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:55578997G>A	ENST00000333973.2	+	1	144	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGACTATCAGATGTCCCTGA	0.443000													14	113					0	0	0.048971	0	0
TONSL	4796	broad.mit.edu	37	8	145655883	145655883	+	Silent	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:145655883G>A	ENST00000409379.3	-	25	3876	c.3847C>T	c.(3847-3849)Ctg>Ttg	p.L1283L		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1283					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TTGGCAGACAGATCCAGTGAG	0.557000													6	12					0	0	0.029380	0	0
ENTPD1	953	broad.mit.edu	37	10	97607265	97607265	+	Silent	SNP	C	C	T	rs149509898	by1000genomes	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:97607265C>T	ENST00000371203.5	+	6	1049	c.462C>T	c.(460-462)aaC>aaT	p.N154N	ENTPD1_ENST00000371205.4_Silent_p.N292N|ENTPD1_ENST00000371207.3_Silent_p.N304N|ENTPD1_ENST00000539125.1_Silent_p.N154N|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.N184N|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Silent_p.N299N	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418000													26	46					0	0	0.091800	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20506898	20506898	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr20:20506898C>T	ENST00000202677.6	-	28	3833	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1231					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGACTTACTTCTGCCATTTTC	0.353000													7	11					0	0	0.029380	0	0
GPAA1	8733	broad.mit.edu	37	8	145139221	145139221	+	Silent	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:145139221G>A	ENST00000355091.4	+	6	922	c.801G>A	c.(799-801)acG>acA	p.T267T	GPAA1_ENST00000361036.6_Silent_p.T207T|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	267					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGTGCACGCTTCAGGGCA	0.627000													17	48					0	0	0.062417	0	0
ALK	238	broad.mit.edu	37	2	29455179	29455179	+	Missense_Mutation	SNP	C	C	T	rs148001139		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:29455179C>T	ENST00000389048.3	-	15	3529	c.2623G>A	c.(2623-2625)Gga>Aga	p.G875R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	875	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTGCGGCTCCGGAATTGCCG	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	91					0	0	0.029380	0	0
SCN1A	6323	broad.mit.edu	37	2	166848284	166848284	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:166848284G>A	ENST00000423058.2	-	26	5518	c.5501C>T	c.(5500-5502)gCg>gTg	p.A1834V	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1823V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1806V|SCN1A_ENST00000303395.4_Missense_Mutation_p.A1834V|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1834						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGGTTCAAGCGCAGCTGCAAA	0.458000													43	64					0	0	0.048971	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501079	90501079	+	Silent	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr9:90501079C>T	ENST00000325643.5	+	4	1743	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CACAGTCTGTCATCCCCACTG	0.547000													11	139					0	0	0.105934	0	0
CDH11	1009	broad.mit.edu	37	16	65032649	65032649	+	Silent	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:65032649G>A	ENST00000394156.3	-	4	792	c.339C>T	c.(337-339)acC>acT	p.T113T	CDH11_ENST00000268603.4_Silent_p.T113T|CDH11_ENST00000566827.1_5'UTR			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	113	Cadherin 1.				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)		CCAACGTCTTGGTGGCATGAA	0.493000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	6					0	0	0.058154	0	0
SLIT2	9353	broad.mit.edu	37	4	20597445	20597445	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr4:20597445C>T	ENST00000504154.1	+	31	3560	c.3308C>T	c.(3307-3309)cCc>cTc	p.P1103L	SLIT2_ENST00000503837.1_Missense_Mutation_p.P1099L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1095L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1116L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1103	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCATATGCCCCGAAGGTTAC	0.438000													19	36					0	0	0.038395	0	0
WDR5	11091	broad.mit.edu	37	9	137005026	137005026	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr9:137005026G>C	ENST00000358625.3	+	2	198	c.27G>C	c.(25-27)gaG>gaC	p.E9D	WDR5_ENST00000425041.1_Missense_Mutation_p.E9D	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	9					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AGAAGCCCGAGACCGAGGCCG	0.657000													11	22					0	0	0.069234	0	0
HERC2	8924	broad.mit.edu	37	15	28375741	28375741	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:28375741C>T	ENST00000261609.7	-	82	12679		c.e82-1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGAATCAATCTAGAGGGGGA	0.413000													43	72					0	0	0.098360	0	0
COL4A4	1286	broad.mit.edu	37	2	228009238	228009238	+	Silent	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr2:228009238T>A	ENST00000396625.3	-	3	315	c.108A>T	c.(106-108)gtA>gtT	p.V36V	COL4A4_ENST00000329662.7_Silent_p.V36V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	36					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCCCATATACATATTGTA	0.308000													19	45					0	0	0.043863	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954641	161954641	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:161954641T>C	ENST00000294794.3	-	7	2027	c.1604A>G	c.(1603-1605)tAc>tGc	p.Y535C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y536C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.Y18C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	535	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGTGTTGCCGTAGTAATAGTT	0.542000													42	79					0	0	0.104719	0	0
SLX4	84464	broad.mit.edu	37	16	3645643	3645643	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:3645643G>A	ENST00000294008.3	-	9	2616	c.1976C>T	c.(1975-1977)tCg>tTg	p.S659L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	659	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTGTCCTGCGATGGCACCAC	0.632000								Direct reversal of damage					9	21					0	0	0.058154	0	0
NALCN	259232	broad.mit.edu	37	13	101997763	101997763	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr13:101997763G>T	ENST00000251127.6	-	7	734	c.653C>A	c.(652-654)aCc>aAc	p.T218N	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T218N	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	218						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTATTCCAGGTTACATTCCT	0.373000													20	34					5.03518e-11	5.6052e-11	0.043863	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659621	24659621	+	RNA	SNP	T	T	C	rs116751564	by1000genomes	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr22:24659621T>C	ENST00000414583.2	+	0	3146					NR_003714.1																						CCTGGATGTCTGCGGCCACAC	0.637000													3	16					0	0	0.014758	0	0
FBLN5	10516	broad.mit.edu	37	14	92336584	92336584	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr14:92336584G>A	ENST00000267620.10	-	12	1623	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	FBLN5_ENST00000556154.1_Missense_Mutation_p.S449L|FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000342058.4_Missense_Mutation_p.S444L			Q9UBX5	FBLN5_HUMAN	fibulin 5	444					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGGGTACTGCGACACATATAT	0.542000													26	51					0	0	0.099896	0	0
MYH2	4620	broad.mit.edu	37	17	10448712	10448712	+	Silent	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:10448712C>T	ENST00000245503.5	-	5	840	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH2_ENST00000397183.2_Silent_p.P152P|MYH2_ENST00000532183.1_Silent_p.P152P|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	152	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGATGTGGGGCGGGGCCTCCT	0.542000													10	96					0	0	0.093190	0	0
FAT2	2196	broad.mit.edu	37	5	150922619	150922619	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:150922619T>C	ENST00000261800.5	-	9	8081	c.8069A>G	c.(8068-8070)aAa>aGa	p.K2690R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2690	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGAAAATTTCGGTAAGGA	0.463000													26	40					0	0	0.037714	0	0
BIK	638	broad.mit.edu	37	22	43524565	43524565	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr22:43524565G>A	ENST00000216115.2	+	4	387	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	108					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GAAGTTTCATGGACGGTTTCA	0.512000													27	67					0	0	0.099896	0	0
GCOM1	145781	broad.mit.edu	37	15	57913836	57913836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:57913836C>T	ENST00000574161.1	+	4	468	c.349C>T	c.(349-351)Cga>Tga	p.R117*	GCOM1_ENST00000380561.2_Intron|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R117*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R117*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R117*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R117*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R117*|GCOM1_ENST00000380560.2_Intron	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		117					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGAGAAAGCGAATGTATGG	0.403000													23	53					0	0	0.076483	0	0
CHD1	1105	broad.mit.edu	37	5	98233988	98233988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr5:98233988G>T	ENST00000284049.3	-	9	1486	c.1337C>A	c.(1336-1338)tCa>tAa	p.S446*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	446	Chromo 2.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGTGGTTTTTGATTGGTTCCT	0.328000													9	31					0.000442599	0.000474788	0.058154	1	0
QSER1	79832	broad.mit.edu	37	11	32955375	32955375	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:32955375T>A	ENST00000399302.2	+	4	2519	c.2184T>A	c.(2182-2184)gaT>gaA	p.D728E	QSER1_ENST00000527788.1_Missense_Mutation_p.D489E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	728	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCTTTTAGATTCTGCCTGTG	0.408000													28	49					0	0	0.108266	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659623	24659623	+	RNA	SNP	C	C	T	rs114457979	by1000genomes	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr22:24659623C>T	ENST00000414583.2	+	0	3148					NR_003714.1																						TGGATGTCTGCGGCCACACCG	0.637000													3	14					0	0	0.014758	0	0
ELP4	26610	broad.mit.edu	37	11	31616337	31616337	+	Silent	SNP	T	T	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:31616337T>A	ENST00000395934.2	+	4	409	c.402T>A	c.(400-402)ctT>ctA	p.L134L	ELP4_ENST00000379163.5_Silent_p.L134L|ELP4_ENST00000350638.5_Silent_p.L134L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	134					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CACCATTACTTGATGATAAAT	0.289000													11	26					0	0	0.093190	0	0
MST1L	11223	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:17085189A>G	ENST00000455405.2	-	0	87																		p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572000													5	20					0	0	0.014758	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456253	5456253	+	Missense_Mutation	SNP	G	G	A	rs113345491		TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr19:5456253G>A	ENST00000222033.4	+	1	828	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	251						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGTCACCCCGTGCTGACCGT	0.682000													25	19					0	0	0.099896	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319570	43319570	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr18:43319570A>G	ENST00000321925.4	+	8	1121	c.889A>G	c.(889-891)Atg>Gtg	p.M297V	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000586142.1_Missense_Mutation_p.M297V|SLC14A1_ENST00000402943.2_Missense_Mutation_p.M192V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.M353V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.M353V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.M189V|SLC14A1_ENST00000589700.1_Silent_p.Q247Q|SLC14A1_ENST00000591541.1_Start_Codon_SNP_p.M1V|SLC14A1_ENST00000535474.1_Missense_Mutation_p.M165V|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	297						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGCATTGCAATGGGAGGAAT	0.562000													26	44					0	0	0.030593	0	0
KCNMA1	3778	broad.mit.edu	37	10	78708933	78708933	+	Silent	SNP	C	C	T	rs143184179	by1000genomes	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr10:78708933C>T	ENST00000286627.5	-	21	3454	c.2502G>A	c.(2500-2502)acG>acA	p.T834T	KCNMA1_ENST00000406533.3_Silent_p.T896T|KCNMA1_ENST00000372443.1_Silent_p.T834T|KCNMA1_ENST00000404771.3_Silent_p.T892T|KCNMA1_ENST00000354353.5_Silent_p.T895T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Silent_p.T834T|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.T875T|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.T892T|RP11-443A13.5_ENST00000600782.1_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	892					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTTATGAAGCGTCTCCCATT	0.458000													5	117					0	0	0.021553	0	0
SENP2	59343	broad.mit.edu	37	3	185316239	185316239	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr3:185316239C>T	ENST00000296257.5	+	3	437	c.197C>T	c.(196-198)gCt>gTt	p.A66V	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.A56V|SENP2_ENST00000465201.1_3'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	66					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCTACAATGCTGCCAGCTTA	0.393000													11	36					0	0	0.093190	0	0
ABTB2	25841	broad.mit.edu	37	11	34176283	34176283	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:34176283C>T	ENST00000435224.2	-	15	3155	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	ABTB2_ENST00000298992.2_Missense_Mutation_p.E725K	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	725							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGGATTCTGTTCCTCCG	0.592000													24	45					0	0	0.091800	0	0
CA4	762	broad.mit.edu	37	17	58233927	58233927	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:58233927T>C	ENST00000300900.4	+	3	218	c.119T>C	c.(118-120)gTc>gCc	p.V40A		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	40					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCAGTGCCAGTCAAGTGGGGT	0.587000													17	35					0	0	0.038395	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42133017	42133017	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr15:42133017G>T	ENST00000382448.4	+	9	967	c.958G>T	c.(958-960)Gat>Tat	p.D320Y	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.D89Y|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D89Y|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D320Y	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		89	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GGTGACCGGAGATGACCCTGT	0.577000													29	41					3.73148e-12	4.23379e-12	0.034045	1	0
PGAM5	192111	broad.mit.edu	37	12	133294060	133294060	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:133294060G>A	ENST00000498926.2	+	3	464	c.406G>A	c.(406-408)Gca>Aca	p.A136T	PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.A136T	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	136						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCTCCGCCTGGCAAGCTTGGG	0.592000													3	31					0	0	0.004672	0	0
POLB	5423	broad.mit.edu	37	8	42196204	42196204	+	Splice_Site	SNP	G	G	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr8:42196204G>T	ENST00000265421.4	+	1	231		c.e1+1		POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_Splice_Site	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta						DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ATGCTCACAGGTTAGCACCGG	0.617000								DNA polymerases (catalytic subunits)					31	56					1.16021e-09	1.26763e-09	0.034045	1	0
NOX4	50507	broad.mit.edu	37	11	89088181	89088181	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr11:89088181G>C	ENST00000535633.1	-	13	1404	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	NOX4_ENST00000343727.5_Missense_Mutation_p.S365C|NOX4_ENST00000528341.1_Missense_Mutation_p.S364C|NOX4_ENST00000531342.1_Missense_Mutation_p.S82C|NOX4_ENST00000534731.1_Missense_Mutation_p.S389C|NOX4_ENST00000542487.1_Missense_Mutation_p.S365C|NOX4_ENST00000532825.1_Missense_Mutation_p.S365C|NOX4_ENST00000527626.1_Missense_Mutation_p.S223C|NOX4_ENST00000375979.3_Missense_Mutation_p.S82C|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.S389C|NOX4_ENST00000527956.1_Missense_Mutation_p.S365C|NOX4_ENST00000424319.1_Missense_Mutation_p.S365C|NOX4_ENST00000413594.2_Missense_Mutation_p.S410C	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	389	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTCTTGACTAGATGGAGGCAG	0.363000													6	22					0	0	0.038147	0	0
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccg>cc	p.PQ1326del	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1326					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	134	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	60	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865	byFrequency	TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr12:6711145_6711147delTCC	ENST00000309577.6	-	4	580_582	c.417_419delGGA	c.(415-420)gat>ga	p.ED139del	CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122).		chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453													27	286	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18856797	18856807	+	Frame_Shift_Del	DEL	GGAGTCTTCAG	GGAGTCTTCAG	-			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr16:18856797_18856807delGGAGTCTTCAG	ENST00000446231.2	-	39	6575_6585	c.6163_6173delCTGAAGACTCC	c.(6163-6174)afs	p.LKTP2055fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.LKTP2055fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2055					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P2058Q(1)|p.P2054Q(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGGTTCAATGGAGTCTTCAGTTTTTCTAGG	0.455													14	40	---	---	---	---					
KIAA0100	9703	broad.mit.edu	37	17	26971123	26971123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr17:26971123delA	ENST00000528896.2	-	2	225	c.151delT	c.(151-153)ggfs	p.W51fs	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	51						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCTGGATCCAAAAAAAGCGG	0.478											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	135	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-DQ-7591-01A-11D-2078-08	TCGA-DQ-7591-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4068a2fc-452d-4b2c-88d8-72d30097527b	91a5e873-7f52-493c-8b6c-95933c192325	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													8	100	---	---	---	---					
