Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MGC70870	403340	broad.mit.edu	37	GL000205.1	117562	117562	+	RNA	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrGL000205.1:117562G>A	uc002kgk.4	+	0		c.940G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CATCCCGTCCGCAGCCGTGGA	0.617000														60			8		0	0	0.038147	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														69			5		0	0	0.014758	0	0
SOHLH1	402381	broad.mit.edu	37	9	138590310	138590310	+	Silent	SNP	C	T	T	rs147567724	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:138590310C>T	uc010nbe.3	-	2	271	c.210G>A	c.(208-210)tcG>tcA	p.S70S	SOHLH1_uc004cgl.3_Silent_p.S70S	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	70					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CACAGCTCAACGACATCCGCT	0.622000														212			9		0	0	0.058154	0	0
TRHR	7201	broad.mit.edu	37	8	110131289	110131289	+	Silent	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:110131289C>T	uc003ymz.4	+	1	891	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	268						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.L268L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CACCAAGATGCTGGCAGTGGT	0.418000														378			116		0	0	0.139131	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419969	19419969	+	RNA	SNP	T	C	C	rs76149397		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:19419969T>C	uc010tcj.1	-	0		c.26141A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GACAAATTCATTGGTTTAGTT	0.303000														78			17		0	0	0.076483	0	0
FLT4	2324	broad.mit.edu	37	5	180039610	180039610	+	Splice_Site	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:180039610G>A	uc003mlz.4	-	26	3511	c.3432_splice	c.e26-1	p.I1144_splice	FLT4_uc003mma.4_Splice_Site_p.I1144_splice	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1144	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGCGGCGTCTGCAGGAT	0.667000														133			9		0	0	0.047766	0	0
OSBPL6	114880	broad.mit.edu	37	2	179193055	179193055	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:179193055G>A	uc002uly.3	+	4	812	c.268G>A	c.(268-270)Gag>Aag	p.E90K	OSBPL6_uc002ulw.3_Missense_Mutation_p.E90K|OSBPL6_uc002ulx.3_Missense_Mutation_p.E90K|OSBPL6_uc010zfe.2_Missense_Mutation_p.E90K|OSBPL6_uc002ulz.3_Missense_Mutation_p.E90K|OSBPL6_uc002uma.3_Missense_Mutation_p.E69K	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	90	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGACAAACATGAGGGCTTTAT	0.378000														105			8		0	0	0.038147	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														150			8		0	0	0.105934	0	0
TCTE1	202500	broad.mit.edu	37	6	44254103	44254103	+	Silent	SNP	G	A	A	rs146051785		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:44254103G>A	uc003oxi.2	-	2	600	c.444C>T	c.(442-444)ggC>ggT	p.G148G	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	148										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTGCCGCCATGGTGGG	0.607000														122			96		0	0	0.139131	0	0
TMEM82	388595	broad.mit.edu	37	1	16069389	16069389	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16069389G>A	uc001axc.3	+	1	286	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	50	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTACTTCTTCGTGGGCTGTGC	0.662000														100			5		0	0	0.014758	0	0
TMEM67	91147	broad.mit.edu	37	8	94767364	94767364	+	Splice_Site	SNP	A	G	G			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:94767364A>G	uc011lgk.2	+	1	294	c.223_splice	c.e1+1	p.G75_splice	TMEM67_uc010mau.3_Splice_Site_p.G75_splice|TMEM67_uc010mav.3_Splice_Site_p.G75_splice|TMEM67_uc010mat.1_Splice_Site|TMEM67_uc010maw.2_Splice_Site_p.G75_splice|TMEM67_uc003yga.4_Splice_Site	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	75					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGATGCCCGAGGTAAGACGG	0.552000														149			100		0	0	0.139131	0	0
WHSC2	7469	broad.mit.edu	37	4	1985370	1985370	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:1985370G>A	uc003gem.3	-	9	1631	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	WHSC2_uc003gek.3_Missense_Mutation_p.T189M|WHSC2_uc003gel.3_Missense_Mutation_p.T377M|WHSC2_uc003gen.3_Missense_Mutation_p.T317M	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	452					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CTCGGGCCGCGTGACTTTGTT	0.672000														113			16		0	0	0.146539	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174767	207174767	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:207174767G>A	uc002vbp.2	+	4	5765	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1839							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGAGAGAAGATGACATAAA	0.413000														39			17		0	0	0.146539	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118268	118268	+	RNA	SNP	G	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrGL000205.1:118268G>C	uc002kgk.4	+	0		c.1646G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAACCAGCAAGAAATTCATCC	0.512000														52			8		0	0	0.038147	0	0
PEG3	5178	broad.mit.edu	37	19	57286068	57286068	+	Silent	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:57286068G>A	uc002qnr.2	-	10	1954	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.C320C|PEG3_uc010ygq.1_Silent_p.C320C|PEG3_uc010etp.2_Silent_p.C524C|PEG3_uc010ygs.1_Silent_p.C524C|PEG3_uc002qnq.2_Silent_p.C524C	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	565					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C524C(1)|p.H523L(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACAGTGATCGCACTCAACAG	0.458000														65			19		0	0	0.175082	0	0
AFF2	2334	broad.mit.edu	37	X	148037698	148037698	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:148037698G>A	uc004fcp.3	+	10	2602	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	AFF2_uc004fcq.3_Missense_Mutation_p.R698Q|AFF2_uc004fcr.3_Missense_Mutation_p.R669Q|AFF2_uc011mxb.2_Missense_Mutation_p.R673Q|AFF2_uc004fcs.3_Missense_Mutation_p.R675Q|AFF2_uc011mxc.2_Missense_Mutation_p.R349Q	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	708					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.R708R(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGTCTCGGGAATTCATT	0.488000														49			75		0	0	0.139131	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:29625947T>C	uc010ztl.1	+	1	133	c.101T>C	c.(100-102)aTt>aCt	p.I34T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000														112			8		0	0	0.058154	0	0
AK311167	0	broad.mit.edu	37	9	69067929	69067929	+	Splice_Site	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:69067929G>A	uc010mnq.2	+	2		c.526_splice	c.e2+1							Homo sapiens cDNA, FLJ18209.																		TGATATGTTGGTGAGTCAGTT	0.279000														19			10		0	0	0.080935	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72759529	72759529	+	Silent	SNP	G	A	A	rs41282067	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:72759529G>A	uc002jlo.3	+	2	850	c.627G>A	c.(625-627)ggG>ggA	p.G209G	SLC9A3R1_uc002jln.1_Non-coding_Transcript	NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	209	PDZ 2.				Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						GCATGGAGGGGAAGCAGCATG	0.637000														56			4		0	0	0.150653	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74715181	74715181	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:74715181G>A	uc001dge.2	+	4	558	c.491G>A	c.(490-492)cGc>cAc	p.R164H	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.R164H|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.R164H|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R63H	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	63						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TTAAATTACCGCACTGAAAAT	0.333000														34			12		0	0	0.119110	0	0
NPAS4	266743	broad.mit.edu	37	11	66190209	66190209	+	Missense_Mutation	SNP	A	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:66190209A>T	uc001ohx.1	+	3	671	c.495A>T	c.(493-495)aaA>aaT	p.K165N	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	165					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGGCAACAAACTCGTGCTTA	0.552000														115			58		0	0	0.139131	0	0
OBSCN	84033	broad.mit.edu	37	1	228479741	228479741	+	Silent	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:228479741C>T	uc009xez.1	+	38	10526	c.10482C>T	c.(10480-10482)taC>taT	p.Y3494Y	OBSCN_uc001hsn.3_Silent_p.Y3494Y|OBSCN_uc001hsq.1_Silent_p.Y750Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3494	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACAGATACATCCTGAGGC	0.632000														160			18		0	0	0.043863	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084261	26084261	+	Missense_Mutation	SNP	A	G	G	rs61752354		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:26084261A>G	uc002wvj.4	-	1	210	c.155T>C	c.(154-156)cTg>cCg	p.L52P						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		CGGTTGCCCCAGAATTGGAGA	0.388000														51			5		0	0	0.093190	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														88			9		0	0	0.047766	0	0
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:167095421C>T	uc001geb.1	+	4	1069	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662000														16			8		0	0	0.038147	0	0
SAMD7	344658	broad.mit.edu	37	3	169644398	169644398	+	Silent	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:169644398C>T	uc003fgd.3	+	5	615	c.348C>T	c.(346-348)ccC>ccT	p.P116P	SAMD7_uc003fge.3_Silent_p.P116P|SAMD7_uc011bpo.2_Silent_p.P17P	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	116										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAATTAATCCCAAGGGACTAG	0.478000														90			30		0	0	0.116897	0	0
MST1P2	11209	broad.mit.edu	37	1	16974868	16974868	+	RNA	SNP	G	T	T	rs28715800	by1000genomes	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16974868G>T	uc010och.2	+	6		c.1328G>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GTGCCAGCGCGGGTCCGCTGA	0.706000														145			9		1.15088e-07	1.20771e-07	0.146539	1	0
MST1P2	11209	broad.mit.edu	37	1	16976345	16976345	+	RNA	SNP	T	C	C	rs139809665	by1000genomes	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16976345T>C	uc010och.2	+	12		c.2190T>C			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTTGCTGAATGTCATCTCCA	0.582000														296			13		0	0	0.153744	0	0
RSPO1	284654	broad.mit.edu	37	1	38079563	38079563	+	Splice_Site	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:38079563C>T	uc001cbl.2	-	7	1329	c.437_splice	c.e7-1	p.A146_splice	RSPO1_uc009vvf.2_Splice_Site_p.A119_splice|RSPO1_uc001cbm.2_Splice_Site_p.A146_splice|RSPO1_uc009vvg.2_Intron	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	146					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617000														103			52		0	0	0.139131	0	0
KLHL38	340359	broad.mit.edu	37	8	124664206	124664206	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:124664206G>A	uc003yqs.1	-	0	985	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	321								p.R321Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTGTACAGCCGTGTCGGGAGT	0.592000														140			51		0	0	0.139131	0	0
abParts	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	G	G			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr22:22664186A>G	uc021wml.1	+	31		c.2628A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATCAAGAAAGCACTCTGA	0.498000														115			7		0	0	0.105934	0	0
ARSI	340075	broad.mit.edu	37	5	149677192	149677192	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:149677192C>T	uc003lrv.2	-	1	1884	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	432						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	p.G432S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCCATAGCCGGGGTCTCC	0.657000														96			51		0	0	0.139131	0	0
CPN2	1370	broad.mit.edu	37	3	194062372	194062372	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:194062372G>A	uc003fts.3	-	1	1150	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	CPN2_uc021xix.1_Missense_Mutation_p.P354S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	354					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGAGGGCTGGGTGCAGCGCC	0.562000														97			51		0	0	0.139131	0	0
FBXW10	10517	broad.mit.edu	37	17	18668178	18668178	+	Splice_Site	SNP	T	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:18668178T>C	uc002gul.3	+	7	1874	c.1642_splice	c.e7+2	p.V548_splice	FBXW10_uc002guj.3_Splice_Site_p.V519_splice|FBXW10_uc002guk.3_Splice_Site_p.V519_splice|FBXW10_uc010cqh.2_Splice_Site_p.V519_splice	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	519										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGTAAAAGGTGAGAAAGAAG	0.443000														25			22		0	0	0.173368	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	G	G			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr7:72413896A>G	uc003twk.2	+	10	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_uc003twj.3_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1122	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000														80			5		0	0	0.014758	0	0
EGFLAM	133584	broad.mit.edu	37	5	38337656	38337656	+	Silent	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:38337656C>T	uc003jlc.2	+	1	478	c.132C>T	c.(130-132)ggC>ggT	p.G44G	EGFLAM_uc003jlb.2_Silent_p.G44G	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	44	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAAGCTGGGCGCATTGAACT	0.512000														29			7		0	0	0.038147	0	0
MYT1	4661	broad.mit.edu	37	20	62838994	62838994	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:62838994G>A	uc002yii.3	+	6	809	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	149					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATCGGCAGCGCCACTGCCTC	0.552000														251			69		0	0	0.139131	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904203	21904203	+	RNA	SNP	C	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:21904203C>A	uc002gza.2	+	0		c.142C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cctgccaggacggtgttcggg	0.677000														133			8		1.12685e-05	1.16808e-05	0.047766	1	0
WBP11P1	441818	broad.mit.edu	37	18	30091940	30091940	+	RNA	SNP	A	C	C	rs2015877	by1000genomes	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:30091940A>C	uc010dmc.3	+	0		c.315A>C								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GTTTGAGCTGAAGTTTTAAAG	0.418000														43			4		0	0	0.150653	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4458561	4458561	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:4458561G>A	uc002fxz.4	-	0	121	c.59C>T	c.(58-60)gCc>gTc	p.A20V	MYBBP1A_uc002fyb.4_Missense_Mutation_p.A20V	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	20	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGCAGGCCGGGCGCCACTCTG	0.637000														9			13		0	0	0.132662	0	0
RIMS1	22999	broad.mit.edu	37	6	73043409	73043409	+	Missense_Mutation	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:73043409G>A	uc003pga.3	+	28	4314	c.4237G>A	c.(4237-4239)Ggc>Agc	p.G1413S	RIMS1_uc011dyb.2_Missense_Mutation_p.G810S|RIMS1_uc003pgc.3_Missense_Mutation_p.G862S|RIMS1_uc010kaq.3_Missense_Mutation_p.G733S|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Missense_Mutation_p.G453S|RIMS1_uc003pgf.3_Missense_Mutation_p.G413S|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Missense_Mutation_p.G479S|RIMS1_uc011dye.2_Missense_Mutation_p.G219S|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1413					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	Rab GTPase binding|metal ion 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)				GCATAATGACGGCAGCCAGTC	0.522000														4			8		0	0	0.038147	0	0
HTR2A	3356	broad.mit.edu	37	13	47466615	47466615	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:47466615C>T	uc010acr.3	-	2	1212	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	HTR2A_uc001vbr.3_Missense_Mutation_p.V91I	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	175					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.V175V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGGATGGCGACGTAGCGGTCC	0.537000														322			165		0	0	0.139131	0	0
LAMA1	284217	broad.mit.edu	37	18	6943188	6943188	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:6943188C>T	uc002knm.3	-	61	9152	c.9058G>A	c.(9058-9060)Ggc>Agc	p.G3020S	LAMA1_uc002knk.3_Missense_Mutation_p.G350S|LAMA1_uc002knl.3_Missense_Mutation_p.G473S|LAMA1_uc010wzj.2_Missense_Mutation_p.G2496S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	3020	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGATAGCCACCAACATAA	0.502000														66			28		0	0	0.108266	0	0
NKD1	85407	broad.mit.edu	37	16	50666302	50666302	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr16:50666302C>T	uc002egg.2	+	8	1030	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	269					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAAAACTACACGTCCCAATTT	0.597000														62			36		0	0	0.074837	0	0
HLX	3142	broad.mit.edu	37	1	221057767	221057767	+	Silent	SNP	G	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:221057767G>A	uc001hmv.4	+	3	1645	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	396	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGACTGAGGGGAGTGAGCGTT	0.652000														62			23		0	0	0.091800	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084251	26084251	+	Silent	SNP	C	T	T	rs61752036	by1000genomes	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:26084251C>T	uc002wvj.4	-	1	220	c.165G>A	c.(163-165)ccG>ccA	p.P55P						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		CATCTCCACACGGTTGCCCCA	0.388000														52			5		0	0	0.119110	0	0
OVOS2	0	broad.mit.edu	37	12	31311920	31311920	+	Silent	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr12:31311920C>T	uc010sjy.1	-	4	510	c.510G>A	c.(508-510)tcG>tcA	p.S170S						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCAGTTGGAACGAGAGTTGGG	0.333000														109			53		0	0	0.139131	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				16			14		4.93089e-13	5.37341e-13	0.119110	1	0
LOC285359	285359	broad.mit.edu	37	3	101431291	101431291	+	RNA	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:101431291C>T	uc003dvj.3	+	0		c.14C>T								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		GCACAGCTGGCTTGAGCAACT	0.453000														46			5		0	0	0.029380	0	0
ACTC1	70	broad.mit.edu	37	15	35084689	35084689	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr15:35084689C>T	uc001ziu.1	-	3	779	c.536G>A	c.(535-537)cGt>cAt	p.R179H	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	179					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGATCCAGACGCATGATGGC	0.547000														115			33		0	0	0.173368	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	C	C	rs121912666		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				34			17		0	0	0.175082	0	0
GRIN2D	2906	broad.mit.edu	37	19	48918276	48918276	+	Missense_Mutation	SNP	G	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:48918276G>C	uc002pjc.4	+	5	1656	c.1568G>C	c.(1567-1569)gGc>gCc	p.G523A		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	523						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCTGGAACGGCATGATCGGG	0.637000														92			34		0	0	0.064281	0	0
COL5A1	1289	broad.mit.edu	37	9	137674564	137674564	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:137674564C>T	uc004cfe.3	+	28	2864	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	828	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGGTGATCGGGTGAGCAT	0.587000														186			85		0	0	0.139131	0	0
MST1P9	11223	broad.mit.edu	37	1	17085791	17085791	+	Missense_Mutation	SNP	G	A	A	rs2297532	by1000genomes	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:17085791G>A	uc010ock.2	-	7	1030	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCTGTACAACGCCGGATCTGG	0.692000														69			4		0	0	0.058154	0	0
COL18A1	80781	broad.mit.edu	37	21	46925862	46925862	+	Missense_Mutation	SNP	C	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:46925862C>A	uc002zhi.3	+	35	3759	c.3738C>A	c.(3736-3738)aaC>aaA	p.N1246K	COL18A1_uc002zhg.3_Missense_Mutation_p.N1066K|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.N44K|COL18A1_uc002zhk.3_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1481	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCGTGCAGAACGGGTTCCGGA	0.667000														134			44		2.43468e-25	2.68763e-25	0.139131	1	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														20			6		0	0	0.029380	0	0
LOC285359	285359	broad.mit.edu	37	3	101431342	101431342	+	RNA	SNP	G	A	A	rs2317940		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:101431342G>A	uc003dvj.3	+	0		c.65G>A								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		CAGACACTGAGTGGAATGACA	0.453000														60			5		0	0	0.038147	0	0
MSR1	4481	broad.mit.edu	37	8	15967630	15967630	+	Silent	SNP	T	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:15967630T>C	uc010lsu.3	-	9	1438	c.1374A>G	c.(1372-1374)tcA>tcG	p.S458S	MSR1_uc003wwz.3_Silent_p.S440S|MSR1_uc003wxa.3_Silent_p.S377S	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	440					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCAGAATGTGAACAGGCTC	0.378000														34			49		0	0	0.139131	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296448	145296448	+	Missense_Mutation	SNP	T	A	A	rs4996268	by1000genomes	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:145296448T>A	uc021oul.1	+	2	405	c.370T>A	c.(370-372)Tat>Aat	p.Y124N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.Y124N|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	124								p.Y124N(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGCTCATTGTATGAGCATCT	0.562000														600			41		0	0	0.139131	0	0
IGSF10	285313	broad.mit.edu	37	3	151160955	151160955	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:151160955C>T	uc011bod.2	-	4	5780	c.5780G>A	c.(5779-5781)cGa>cAa	p.R1927Q	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1927	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTACTCTTCGCTCCGAACC	0.433000														146			64		0	0	0.139131	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150555	193150555	+	Missense_Mutation	SNP	A	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:193150555A>C	uc021pgr.1	-	0	138	c.138T>G	c.(136-138)caT>caG	p.H46Q	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Missense_Mutation_p.H46Q	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	46					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GCAGCCAGTCATGATGATTGA	0.428000														128			10		0	0	0.080935	0	0
ZFR	51663	broad.mit.edu	37	5	32364367	32364367	+	Silent	SNP	T	C	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:32364367T>C	uc003jhr.1	-	17	2930	c.2850A>G	c.(2848-2850)ctA>ctG	p.L950L	ZFR_uc010ium.1_Silent_p.L81L|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	950	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTTCTCTACTAGTAACTCCA	0.343000														48			46		0	0	0.124865	0	0
ZNF662	389114	broad.mit.edu	37	3	42950359	42950359	+	Missense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:42950359C>T	uc003cmk.2	+	2	475	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	ZNF662_uc003cmi.2_Missense_Mutation_p.R37W|ZNF662_uc003cmj.2_5'UTR	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCGGTTCCTCGGGGAGCTCT	0.542000														124			59		0	0	0.139131	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815014	106815014	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:106815014C>T	uc003ymd.3	+	7	2727	c.2704C>T	c.(2704-2706)Cga>Tga	p.R902*	ZFPM2_uc011lhs.2_Nonsense_Mutation_p.R633*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	902					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R902*(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAGCGAACGAAACAGCCC	0.458000														37			19		0	0	0.175082	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084262	26084262	+	Silent	SNP	G	A	A	rs61751718		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:26084262G>A	uc002wvj.4	-	1	209	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		GGTTGCCCCAGAATTGGAGAG	0.388000														50			5		0	0	0.105934	0	0
MST1P9	11223	broad.mit.edu	37	1	17085590	17085595	+	In_Frame_Del	DEL	GCGCTG	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:17085590_17085595delGCGCTG	uc010ock.2	-	8	1126_1131	c.1126_1131delCAGCGC	c.(1126-1131)cagcgcdel	p.QR376del	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.K375N(1)|p.Q376_R377delQR(1)|p.Q366_R367delQR(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CAGCGGACCAGCGCTGGCACTGGACA	0.704													---	238	---	---	11	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	35	---	---	7	---					
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	-	-	rs58327065		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:154842200_154842202delGCT	uc021pah.1	-	0	553_555	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_uc001ffp.3_In_Frame_Del_p.Q80del|KCNN3_uc009wox.1_In_Frame_Del_p.Q80del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(4)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.700													---	8	---	---	4	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	A	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:97808574_97808575insA	uc010yva.2	+	8	1145	c.901_splice	c.e8+2	p.V301_splice	ANKRD36_uc021vlk.1_Intron|ANKRD36_uc010yuz.1_Splice_Site|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Splice_Site	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	301								p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													---	9	---	---	5	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	-	-	rs111245977		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:4228274_4228282delCCACAGCAG	uc003ghp.1	-	0	340_348	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													---	43	---	---	23	---					
FAT4	79633	broad.mit.edu	37	4	126241496	126241502	+	Frame_Shift_Del	DEL	CAATACC	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:126241496_126241502delCAATACC	uc003ifj.4	+	0	3930_3936	c.3930_3936delCAATACC	c.(3928-3936)gacaataccfs	p.D1310fs		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1310	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1312S(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAAATGACAATACCCCTTCTTTCC	0.391													---	122	---	---	19	---					
C8orf42	157695	broad.mit.edu	37	8	494659	494664	+	In_Frame_Del	DEL	GGCGGC	-	-	rs71202629		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:494659_494664delGGCGGC	uc011kwg.1	-	0	668_673	c.94_99delGCCGCC	c.(94-99)gccgccdel	p.AA32del	C8orf42_uc003wpd.3_In_Frame_Del_p.AA32del	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	Homo sapiens chromosome 8 open reading frame 42 (C8orf42), transcript variant 1, mRNA.	32	Poly-Ala.							p.A32_A33delAA(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		CCTGCGCCTGggcggcggcggcggcg	0.782													---	3	---	---	3	---					
CDKN2A	1029	broad.mit.edu	37	9	21974768	21974775	+	Frame_Shift_Del	DEL	GCGGCCGT	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:21974768_21974775delGCGGCCGT	uc003zpk.3	-	0	358_365	c.52_59delACGGCCGC	c.(52-60)acggccgcgfs	p.T18fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Frame_Shift_Del_p.T18fs|CDKN2A_uc010miu.3_Frame_Shift_Del_p.T18fs|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	18					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.A20P(6)|p.A19_A20insTA(6)|p.A20T(4)|p.T18P(3)|p.A20E(2)|p.A20A(2)|p.S7_A19del(2)|p.T18M(2)|p.A20fs*26(2)|p.A20_A21del(2)|p.A17fs*5(2)|p.A20S(2)|p.A20fs*6(2)|p.L16_A17insAT(1)|p.S12fs*20(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A19fs(1)|p.M9_A20>X(1)|p.A17T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCCGGGCCGCGGCCGTGGCCAGCCAG	0.745		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	49	---	---	34	---					
SIGIRR	59307	broad.mit.edu	37	11	406437	406439	+	In_Frame_Del	DEL	GTC	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:406437_406439delGTC	uc001lpg.3	-	7	1132_1134	c.979_981delGAC	c.(979-981)gacdel	p.D327del	SIGIRR_uc001lpd.2_In_Frame_Del_p.D327del|SIGIRR_uc001lpf.2_In_Frame_Del_p.D327del|SIGIRR_uc001lpe.1_In_Frame_Del_p.D327del			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	327					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGTCCTTGTCGTCCTGCAGC	0.650													---	136	---	---	38	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:25671273delG	uc001upy.3	+	0	998	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													---	412	---	---	13	---					
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:108518687_108518689delCTG	uc001vql.3	-	0	772_774	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	86	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719													---	90	---	---	7	---					
abParts	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	-	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr14:106993939_106993941delTAC	uc021ser.1	-	233		c.9313_9315delGTA								Parts of antibodies, mostly variable regions.																		TAGTATATGGTACTACTACTACT	0.502													---	570	---	---	10	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:21745096_21745097insT	uc002kve.3	-	26	2899_2900	c.2682_2683insA	c.(2680-2685)aaacgafs	p.K894fs	OSBPL1A_uc002kvd.3_Frame_Shift_Ins_p.K381fs|OSBPL1A_uc010xbc.2_Frame_Shift_Ins_p.K512fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	894					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.460													---	966	---	---	11	---					
MIR520H	574493	broad.mit.edu	37	19	54245839	54245840	+	RNA	INS	-	GT	GT	rs111745142		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:54245839_54245840insGT	uc010yeb.2	+	0		c.74_75insGT								Homo sapiens microRNA 520h (MIR520H), microRNA.																		TTCCCTTTAGAGTTACTGTTTG	0.421													---	55	---	---	15	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	GGGGCGCAGCAGCTG	GGGGCGCAGCAGCTG	rs71199613		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													---	85	---	---	13	---					
