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
HSD11B2	3291	broad.mit.edu	37	16	67469639	67469639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:67469639G>A	ENST00000326152.5	+	2	506	c.374G>A	c.(373-375)cGt>cAt	p.R125H	HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	125					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	ATCGAGCTGCGTACCTGCTGC	0.597000													13	28					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	80					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22652929	22652929	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr21:22652929A>C	ENST00000400546.1	+	2	336	c.87A>C	c.(85-87)aaA>aaC	p.K29N	NCAM2_ENST00000535285.1_Missense_Mutation_p.K54N|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	29	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACTTAGCAAAGTAGAGCTTA	0.303000													5	13					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137483	40137483	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:40137483G>A	ENST00000278198.2	-	2	2323	c.360C>T	c.(358-360)ttC>ttT	p.F120F	LRRC4C_ENST00000528697.1_Silent_p.F120F|LRRC4C_ENST00000527150.1_Silent_p.F120F|LRRC4C_ENST00000530763.1_Silent_p.F120F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	120					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAGACCATTGAAAGCCCCAA	0.423000													14	41					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44144914	44144914	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:44144914C>T	ENST00000262419.6	-	5	2123		c.e5+1		KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding	p.?(1)									CTAAAACTTACGTGTTAATAA	0.413000													14	55					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466411	56466411	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:56466411G>A	ENST00000291971.3	+	3	1058	c.987G>A	c.(985-987)acG>acA	p.T329T	NLRP8_ENST00000590542.1_Silent_p.T329T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	329	NACHT.					cytoplasm	ATP binding	p.T329T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGAGGCCACGCTACTGATCA	0.488000													18	84					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335222	64335222	+	Missense_Mutation	SNP	A	A	G	rs146493539		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:64335222A>G	ENST00000301891.4	+	7	1584	c.1210A>G	c.(1210-1212)Atc>Gtc	p.I404V	SLC22A11_ENST00000377581.3_Missense_Mutation_p.I404V|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	404					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCGCCGCACCATCCAGGCGGG	0.697000													8	27					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147648386	147648386	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:147648386C>T	ENST00000367481.3	+	18	2162	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	STXBP5_ENST00000321680.6_Missense_Mutation_p.P685L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P685L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P356L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	685					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCCCGATCTCCTCGTAAATCT	0.398000													10	34					0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124672390	124672390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:124672390C>T	ENST00000368894.1	+	3	359	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	80						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCCATCTCTCCAGTGCTGTGA	0.522000													23	57					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9679711	9679711	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:9679711G>A	ENST00000217964.7	+	16	2140	c.1500G>A	c.(1498-1500)acG>acA	p.T500T	TBL1X_ENST00000536365.1_Silent_p.T449T|TBL1X_ENST00000407597.2_Silent_p.T500T|TBL1X_ENST00000380961.1_Silent_p.T449T|TBL1X_ENST00000424279.1_Silent_p.T449T	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	500					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GCACCCACACGCTCACGAAGC	0.517000													10	28					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561057	11561057	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11561057C>A	ENST00000294484.6	+	2	146	c.8C>A	c.(7-9)aCg>aAg	p.T3K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T3K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	3					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACTATGGACACGGAGGATGAC	0.607000													8	37					0.307466	0.307466	1	1	0
NEK11	79858	broad.mit.edu	37	3	130889682	130889682	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:130889682C>T	ENST00000383366.4	+	14	1643	c.1350C>T	c.(1348-1350)caC>caT	p.H450H	NEK11_ENST00000510769.1_Silent_p.H345H|NEK11_ENST00000429253.2_Silent_p.H450H|NEK11_ENST00000511262.1_Silent_p.H450H|NEK11_ENST00000356918.4_Silent_p.H450H|NEK11_ENST00000508196.1_Silent_p.H450H|NEK11_ENST00000412440.2_Silent_p.H266H|NEK11_ENST00000507910.1_Silent_p.H450H|NEK11_ENST00000510688.1_Silent_p.H450H	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	450					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGGACCTCCACGAACTTGAAT	0.443000													20	79					0	0	1	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500827	27500827	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:27500827C>T	ENST00000296097.3	+	4	737	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.H91Y|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.H107Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	107					protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTATGATCACTTTGGTGA	0.398000													5	76					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979121	102979121	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:102979121T>A	ENST00000372617.4	-	4	799	c.379A>T	c.(379-381)Atc>Ttc	p.I127F		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	127						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGCTTCCAGATAGAGTCCAGC	0.507000													39	117					0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154271221	154271221	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:154271221G>C	ENST00000240488.3	+	2	98	c.9G>C	c.(7-9)aaG>aaC	p.K3N	MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	3					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TTTAGTCAAAGAAAAAAGGAC	0.279000													34	31					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172558148	172558148	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:172558148G>T	ENST00000367723.3	+	17	2487	c.2363G>T	c.(2362-2364)tGg>tTg	p.W788L	SUCO_ENST00000263688.3_Missense_Mutation_p.W636L	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ATATATAAATGGTGTTCAGTT	0.383000													8	32					0.0381472	0.0386662	1	1	0
EPHA10	284656	broad.mit.edu	37	1	38227318	38227318	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:38227318C>T	ENST00000373048.4	-	3	608	c.609G>A	c.(607-609)tcG>tcA	p.S203S	EPHA10_ENST00000319637.6_Silent_p.S203S|EPHA10_ENST00000427468.2_Silent_p.S203S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	203						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACGCGCACCGAGACAAGCG	0.667000													8	36					0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9768731	9768731	+	Silent	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:9768731G>C	ENST00000448622.1	-	4	357	c.195C>G	c.(193-195)ctC>ctG	p.L65L	ZNF562_ENST00000541032.1_Silent_p.L28L|ZNF562_ENST00000587392.1_Silent_p.L65L|ZNF562_ENST00000590155.1_Silent_p.L65L|ZNF562_ENST00000453792.2_5'UTR|ZNF562_ENST00000537617.1_Intron|ZNF562_ENST00000453372.2_Silent_p.L65L|ZNF562_ENST00000293648.4_Intron	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CATCTCTGTAGAGGTATTTCT	0.488000													6	23					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100173369	100173369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:100173369C>T	ENST00000310300.6	-	17	1865	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E153K	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	605	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAAAACTCTCCACATTCTTC	0.572000													62	134					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35219730	35219730	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:35219730G>A	ENST00000428726.2	+	7	982	c.859G>A	c.(859-861)Gac>Aac	p.D287N	CD44_ENST00000360158.4_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.D287N|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.D287N|CD44_ENST00000433354.2_Missense_Mutation_p.D287N|CD44_ENST00000415148.2_Missense_Mutation_p.D244N|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000528922.1_3'UTR|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	287	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGATGAAAGAGACAGACACCT	0.423000													3	38					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063602	103063602	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:103063602A>G	ENST00000264260.2	+	10	1734	c.1145A>G	c.(1144-1146)tAc>tGc	p.Y382C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Y240C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	382					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCCCTCCTCTACAGGCACTGG	0.572000													38	116					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532066	140532066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:140532066T>C	ENST00000231136.1	+	1	2228	c.2228T>C	c.(2227-2229)cTa>cCa	p.L743P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L607P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		743					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGGACCCTATCCCAGAGC	0.612000													68	95					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013358	75013358	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr15:75013358G>A	ENST00000379727.3	-	6	1401	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	CYP1A1_ENST00000567032.1_Silent_p.I401I|CYP1A1_ENST00000395048.2_Silent_p.I401I|CYP1A1_ENST00000395049.4_Intron|CYP1A1_ENST00000564596.1_Silent_p.I140I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	401					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCCCCTTGGGGATGTAAAAGC	0.507000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				22	78					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	32					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661018	113661018	+	RNA	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:113661018G>A	ENST00000393544.2	+	0	1066																											CACATTCCTCGATTCCAGCAA	0.572000													11	41					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276430	152276430	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:152276430G>A	ENST00000368799.1	-	3	10967	c.10932C>T	c.(10930-10932)caC>caT	p.H3644H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3644	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.547000									Ichthyosis				88	299					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020030	9020030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:9020030C>T	ENST00000397910.4	-	21	37668	c.37465G>A	c.(37465-37467)Gag>Aag	p.E12489K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12491	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCCCAGCTCTTTGATGCCA	0.517000													37	132					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173853508	173853508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:173853508C>G	ENST00000264111.6	+	14	1499	c.1312C>G	c.(1312-1314)Cga>Gga	p.R438G	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R268G|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R286G|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R219G|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R439G|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R295G|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R439G|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R286G			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	439					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TATCGTCTTACGAGAAGATAA	0.488000													12	48					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27463875	27463875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:27463875C>T	ENST00000316403.10	-	4	818	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CLU_ENST00000546343.1_Missense_Mutation_p.R149H|CLU_ENST00000405140.3_Missense_Mutation_p.R138H|CLU_ENST00000523500.1_Missense_Mutation_p.R138H|CLU_ENST00000560366.1_Missense_Mutation_p.R190H			P10909	CLUS_HUMAN	clusterin	138					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTTCACCTGGCGGCCAACCAG	0.552000													14	49					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111914221	111914221	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:111914221G>C	ENST00000280346.6	+	8	1820	c.1161G>C	c.(1159-1161)aaG>aaC	p.K387N	DLAT_ENST00000537636.1_Missense_Mutation_p.K158N|DLAT_ENST00000393051.1_Missense_Mutation_p.K282N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	387	E3-binding site (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TCACCAAGAAGGATATCGACT	0.413000													37	102					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229311	39229311	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:39229311C>T	ENST00000340369.3	-	2	1854	c.1626G>A	c.(1624-1626)gtG>gtA	p.V542V	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V542V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	542	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCCAGCCACCACTTCCTGCC	0.612000													13	76					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740903	110740903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:110740903G>A	ENST00000331565.4	+	12	2506	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	674					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GATGAGACCCGCTTCATCCTC	0.602000													15	55					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11082205	11082205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11082205G>A	ENST00000240185.3	+	6	853	c.739G>A	c.(739-741)Gac>Aac	p.D247N	TARDBP_ENST00000315091.3_Missense_Mutation_p.D247N|TARDBP_ENST00000439080.2_Missense_Mutation_p.D131N	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	247	RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TTGTGGAGAGGACTTGATCAT	0.353000													8	49					0	0	1	0	0
PSCA	8000	broad.mit.edu	37	8	143763518	143763518	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:143763518G>T	ENST00000301258.4	+	3	396	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	105										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCTGCACTCGGCCTGCTGCT	0.682000													9	15					3.09899e-07	3.25175e-07	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561058	11561058	+	Silent	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:11561058G>T	ENST00000294484.6	+	2	147	c.9G>T	c.(7-9)acG>acT	p.T3T	PTCHD2_ENST00000389575.3_Silent_p.T3T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	3					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTATGGACACGGAGGATGACC	0.607000													8	37					5.68852e-11	6.05422e-11	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139890116	139890116	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:139890116C>T	ENST00000303045.6	-	3	981	c.535G>A	c.(535-537)Gag>Aag	p.E179K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E179K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	179	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGAGTGCCTCGCCCACGCCC	0.677000										HNSCC(7;0.00092)			7	16					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187449600	187449600	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:187449600G>A	ENST00000406870.2	-	4	646	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R94W|BCL6_ENST00000450123.2_Missense_Mutation_p.R94W|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	94	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAATTGAGCCGAGATGTGTAC	0.488000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								16	42					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71186939	71186939	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:71186939A>C	ENST00000418814.2	+	8	1060	c.446A>C	c.(445-447)cAt>cCt	p.H149P	FAM135A_ENST00000370479.3_Missense_Mutation_p.H106P|FAM135A_ENST00000361499.3_Missense_Mutation_p.H149P|FAM135A_ENST00000505868.1_Missense_Mutation_p.H149P|FAM135A_ENST00000505769.1_Missense_Mutation_p.H149P|FAM135A_ENST00000457062.2_Missense_Mutation_p.H106P	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	149										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGAGGCCTTCATCATCATGTT	0.408000													12	42					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44893329	44893329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:44893329G>A	ENST00000326047.4	+	33	4006	c.3857G>A	c.(3856-3858)aGa>aAa	p.R1286K	KIF15_ENST00000425755.1_Missense_Mutation_p.R921K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1286					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATGCCTTAGAATGACTGAT	0.363000													23	69					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983074	140983074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:140983074G>A	ENST00000298296.1	+	5	929	c.929G>A	c.(928-930)gGg>gAg	p.G310E	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.G62E|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	310	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTGGCAGGGTTCGCGGAT	0.597000													39	82					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								14	84					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26750065	26750065	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:26750065C>T	ENST00000381340.3	-	31	4421	c.4005G>A	c.(4003-4005)ttG>ttA	p.L1335L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1335					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCCCATTTATCAACTGAAATG	0.393000													26	89					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63824819	63824819	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr15:63824819T>C	ENST00000558285.1	+	1	115	c.14T>C	c.(13-15)gTa>gCa	p.V5A	USP3_ENST00000540797.1_Intron|USP3_ENST00000380324.3_Intron|USP3_ENST00000268049.7_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000539772.1_Intron			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	0					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGCAATTGGTATATTGTGTA	0.393000													9	35					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134072773	134072773	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:134072773T>C	ENST00000534548.2	-	13	1617	c.1553A>G	c.(1552-1554)aAc>aGc	p.N518S		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	518					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCGGAACGGTTAGATGTCTG	0.373000													7	50					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400811	40400811	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:40400811C>T	ENST00000338305.6	-	2	584	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	14						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACGGCAAACGCCATGCCAA	0.597000													9	46					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391306	49391306	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:49391306G>A	ENST00000421952.2	-	2	1374	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	451	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGACAAAGACGCCTTCCCCAC	0.642000													22	54					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84132699	84132699	+	Missense_Mutation	SNP	G	G	A	rs142980972		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:84132699G>A	ENST00000343411.3	-	3	875	c.380C>T	c.(379-381)aCg>aTg	p.T127M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	127					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGTTGGGGCGTGACCCGTTT	0.413000													17	72					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231740463	231740463	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:231740463C>T	ENST00000326427.6	+	3	516	c.390C>T	c.(388-390)aaC>aaT	p.N130N	ITM2C_ENST00000335005.6_Silent_p.N83N|ITM2C_ENST00000409704.2_Silent_p.N68N|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326407.6_Silent_p.N130N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	130					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCGCATCAACGTGCCTGTGC	0.617000													23	93					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56495047	56495047	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:56495047A>C	ENST00000370754.5	-	30	4177	c.4178T>G	c.(4177-4179)tTa>tGa	p.L1393*	DST_ENST00000446842.2_Nonsense_Mutation_p.L889*|DST_ENST00000361203.3_Nonsense_Mutation_p.L1215*|DST_ENST00000244364.6_Nonsense_Mutation_p.L889*|DST_ENST00000312431.6_Nonsense_Mutation_p.L1215*|DST_ENST00000370788.2_Nonsense_Mutation_p.L1215*|DST_ENST00000518935.1_Nonsense_Mutation_p.L889*|DST_ENST00000370765.6_Nonsense_Mutation_p.L889*|DST_ENST00000370769.4_Nonsense_Mutation_p.L1215*|DST_ENST00000421834.2_Nonsense_Mutation_p.L1215*			Q03001	DYST_HUMAN	dystonin	1215					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATACCTTTAAAGTACTTAT	0.318000													16	61					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128354096	128354096	+	Silent	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:128354096C>G	ENST00000389524.4	+	19	2357	c.2304C>G	c.(2302-2304)ctC>ctG	p.L768L	MYO7B_ENST00000409816.2_Silent_p.L768L|MYO7B_ENST00000428314.1_Silent_p.L768L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	768	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGCGGCGCTCAGCATCCAGA	0.627000													3	19					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839711	15839711	+	Silent	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:15839711C>G	ENST00000305899.3	+	1	878	c.858C>G	c.(856-858)ctC>ctG	p.L286L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CGCCCTTCCTCAGCCCCATCA	0.557000													18	61					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149646	202149646	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:202149646C>G	ENST00000358485.4	+	8	1283	c.1087C>G	c.(1087-1089)Cac>Gac	p.H363D	CASP8_ENST00000264274.9_Missense_Mutation_p.H220D|CASP8_ENST00000264275.5_Missense_Mutation_p.H321D|CASP8_ENST00000323492.7_Missense_Mutation_p.H289D|CASP8_ENST00000432109.2_Missense_Mutation_p.H304D|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	304					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACTCATGGACCACAGTAACAT	0.478000										HNSCC(4;0.00038)			21	96					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20279947	20279947	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr13:20279947C>T	ENST00000338910.4	-	8	1400	c.1241G>A	c.(1240-1242)gGt>gAt	p.G414D		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	414	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ACCTTGGTTACCAGCAGGGGC	0.428000													6	80					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77082217	77082217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:77082217C>T	ENST00000579016.1	+	14	2018	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	673						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGTGATGACTCTCCGGGCAGG	0.627000													9	47					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29908713	29908713	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:29908713C>G	ENST00000256062.5	-	4	809	c.336G>C	c.(334-336)gaG>gaC	p.E112D	TMTC1_ENST00000539277.1_Missense_Mutation_p.E220D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E112D|TMTC1_ENST00000552618.1_Missense_Mutation_p.E220D|TMTC1_ENST00000551659.1_Missense_Mutation_p.E220D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	220						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGATGCCTGTCTCTTTCACCA	0.473000													14	40					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104199	62104199	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:62104199C>A	ENST00000416284.3	-	5	1969		c.e5-1		FAM19A2_ENST00000550003.1_Splice_Site|FAM19A2_ENST00000551449.1_Splice_Site|FAM19A2_ENST00000551619.1_Splice_Site	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AATGGGTTACCTACAAAGGAA	0.343000													25	78					3.65163e-15	3.91434e-15	1	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88162179	88162179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:88162179C>T	ENST00000357081.3	-	26	3670	c.3526G>A	c.(3526-3528)Gaa>Aaa	p.E1176K	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M624I|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E1188K|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E1136K|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1176					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGTTCATCTTCATCCAAGACA	0.383000													7	50					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135501125	135501125	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:135501125C>T	ENST00000372159.3	-	17	2105	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	DDX31_ENST00000438527.3_Missense_Mutation_p.E523K|DDX31_ENST00000372153.1_Intron	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	652	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATCTTAATCTCAGAAACGCTG	0.398000													4	27					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596802	142596802	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:142596802C>A	ENST00000370503.2	-	2	351	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	90										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATAAGTCTACGCCTTCG	0.438000													29	135					2.65835e-16	2.89119e-16	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162680600	162680600	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:162680600G>A	ENST00000306100.5	-	6	1126	c.690C>T	c.(688-690)gaC>gaT	p.D230D	FSTL5_ENST00000427802.2_Silent_p.D229D|FSTL5_ENST00000379164.4_Silent_p.D229D|FSTL5_ENST00000536695.1_Silent_p.D229D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	230	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAGGTGCTTGTCAGCATTAA	0.333000													24	24					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000259523.6_Missense_Mutation_p.S146L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	20					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5463006	5463006	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:5463006C>G	ENST00000345221.3	-	4	1564	c.1010G>C	c.(1009-1011)gGa>gCa	p.G337A	NLRP1_ENST00000572272.1_Missense_Mutation_p.G337A|NLRP1_ENST00000577119.1_Missense_Mutation_p.G337A|NLRP1_ENST00000354411.3_Missense_Mutation_p.G337A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.G337A|NLRP1_ENST00000269280.4_Missense_Mutation_p.G337A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	337	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTTCCCAATTCCAGCAGCCCC	0.542000													35	137					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33233462	33233462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:33233462C>T	ENST00000401073.2	+	2	380	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	KIAA1522_ENST00000373481.3_Missense_Mutation_p.H56Y|KIAA1522_ENST00000373480.1_Missense_Mutation_p.H45Y|KIAA1522_ENST00000294521.3_Missense_Mutation_p.H45Y	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	45										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGTGGATGAGCACCAGGACAA	0.597000													16	76					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181846	128181846	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:128181846C>T	ENST00000469083.1	-	2	2800	c.243G>A	c.(241-243)acG>acA	p.T81T	DNAJB8_ENST00000319153.3_Silent_p.T81T			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	81					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGTGGTAGGGCGTGCTGGCCC	0.592000													28	77					0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449114	16449114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr22:16449114C>A	ENST00000252835.4	-	1	691	c.691G>T	c.(691-693)Gga>Tga	p.G231*		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTATAGGATCCAATAATAAAG	0.428000													28	98					5.45727e-16	5.89227e-16	1	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50453366	50453366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:50453366C>T	ENST00000447370.2	-	11	2048	c.1958G>A	c.(1957-1959)aGg>aAg	p.R653K	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R557K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	653					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCAGAGCCTCAGGCCCTG	0.667000													9	27					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692729	100692729	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:100692729T>G	ENST00000259456.3	-	4	1091	c.948A>C	c.(946-948)caA>caC	p.Q316H		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	316					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGATTCTTGGTGTGTTT	0.368000													31	128					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66356240	66356240	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:66356240G>A	ENST00000273854.3	-	5	1857	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	EPHA5_ENST00000511294.1_Silent_p.S419S|EPHA5_ENST00000354839.4_Silent_p.S419S|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	419	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCAGGCCGCTTTGCCGGG	0.502000										TSP Lung(17;0.13)			7	50					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975496	116975496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:116975496G>T	ENST00000355044.3	+	9	1516	c.1390G>T	c.(1390-1392)Gta>Tta	p.V464L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	464						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGGAGCTATTGTACAAGGTGG	0.313000													6	30					0.0293803	0.029984	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31809262	31809262	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:31809262G>A	ENST00000446923.2	+	7	1342	c.951G>A	c.(949-951)gaG>gaA	p.E317E	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Silent_p.E266E|ZEB1_ENST00000320985.10_Silent_p.E333E|ZEB1_ENST00000361642.5_Silent_p.E334E|ZEB1_ENST00000560721.2_Silent_p.E313E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	333					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGATAGAGAATAAACCCC	0.433000													13	36					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127399121	127399121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:127399121C>T	ENST00000468137.1	+	11	1430	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	ABTB1_ENST00000232744.8_Missense_Mutation_p.R414W|ABTB1_ENST00000393363.3_Missense_Mutation_p.R272W|ABTB1_ENST00000453791.2_Missense_Mutation_p.R272W			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	414	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GCTGGTGGAGCGGGAGGACTT	0.662000													13	32					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805657	45805657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:45805657G>A	ENST00000262891.4	+	17	2279	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	MARK4_ENST00000300843.4_Silent_p.R676R	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	650					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGATCAAACGGAAACCGCCCC	0.617000													28	181					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376100	18376100	+	Silent	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:18376100T>C	ENST00000392413.3	-	3	2465	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	KIAA1683_ENST00000600359.2_Silent_p.T704T|KIAA1683_ENST00000600328.2_Silent_p.T750T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	750						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTTATGTCTGTGATCGGCT	0.612000													31	80					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566595	37566595	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:37566595G>C	ENST00000300651.6	-	17	2102	c.1879C>G	c.(1879-1881)Cac>Gac	p.H627D	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	627	Interaction with PPARGC1A and THRA.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCGGCGTGTGATGAGGAGGG	0.532000										HNSCC(31;0.082)			12	73					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116446288	116446288	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:116446288C>A	ENST00000281928.3	-	10	2136	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	644					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTGAACTCAGCATCATCACTG	0.512000													6	30					0.00198382	0.00203854	1	1	0
RPL27	6155	broad.mit.edu	37	17	41154796	41154796	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:41154796G>C	ENST00000589913.1	+	3	632	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	RPL27_ENST00000253788.5_Missense_Mutation_p.E120Q|RPL27_ENST00000590864.1_Missense_Mutation_p.E64Q|RPL27_ENST00000589037.1_Missense_Mutation_p.E120Q			P61353	RL27_HUMAN	ribosomal protein L27	120					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CAAGTTTGAAGAGAGGTAAGT	0.448000													15	76					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681074	234681074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:234681074G>A	ENST00000305139.6	+	5	1607	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	UGT1A5_ENST00000373414.3_Missense_Mutation_p.V492M|UGT1A6_ENST00000373424.1_Missense_Mutation_p.V223M|UGT1A7_ENST00000373426.3_Missense_Mutation_p.V488M|UGT1A8_ENST00000373450.4_Missense_Mutation_p.V488M|UGT1A9_ENST00000354728.4_Missense_Mutation_p.V488M|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V491M|UGT1A10_ENST00000344644.5_Missense_Mutation_p.V488M|UGT1A3_ENST00000482026.1_Missense_Mutation_p.V492M|UGT1A4_ENST00000373409.3_Missense_Mutation_p.V492M	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTCCTTGGACGTGATTGGTTT	0.567000													29	78					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971737	101971737	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:101971737T>A	ENST00000543253.1	+	5	2859	c.1940T>A	c.(1939-1941)cTt>cAt	p.L647H	GPRASP2_ENST00000332262.5_Missense_Mutation_p.L647H|GPRASP2_ENST00000535209.1_Missense_Mutation_p.L647H	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAACCTTGCTTAATTATCCA	0.348000													14	47					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635251	122635251	+	Silent	SNP	A	A	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:122635251A>T	ENST00000249284.2	-	1	503	c.438T>A	c.(436-438)atT>atA	p.I146I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	146					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTAATTCCCAATAGCTGAAG	0.393000													11	69					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925589	27925589	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:27925589G>C	ENST00000244623.1	+	1	571	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCTTGTGTTGAGACAACAGC	0.458000													38	117					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125283974	125283974	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:125283974C>G	ENST00000521654.2	+	1	284	c.284C>G	c.(283-285)cCt>cGt	p.P95R	RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CTCACCGGGCCTCTCAATCCC	0.687000													3	21					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155171682	155171682	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:155171682C>G	ENST00000262640.6	+	7	745	c.662C>G	c.(661-663)tCa>tGa	p.S221*	VAMP7_ENST00000286448.6_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCATGTGACTCAAGCCTTTCA	0.393000													9	21					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38385908	38385908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:38385908C>T	ENST00000358138.1	-	1	272	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	C8orf86_ENST00000437935.2_Missense_Mutation_p.R83Q	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	83										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TGGAGGCTCTCGCCAGCGGCG	0.577000													15	64					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12454453	12454453	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr18:12454453G>A	ENST00000409402.4	-	13	1935	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	SPIRE1_ENST00000309836.5_Silent_p.L345L|SPIRE1_ENST00000383356.2_Silent_p.L383L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Silent_p.L542L|SPIRE1_ENST00000453447.2_Silent_p.L422L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	556	Spir-box.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CAGTAAGAGCGAGGCATTCCA	0.448000													24	71					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152775	18152775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:18152775C>T	ENST00000375406.1	+	3	1078	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	288						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATCTCCCTGCGCCCCCTGCT	0.642000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	53					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56089351	56089351	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:56089351C>T	ENST00000257880.7	-	15	2309	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	ITGA7_ENST00000452168.2_Missense_Mutation_p.R560H|ITGA7_ENST00000553804.1_Missense_Mutation_p.R657H|ITGA7_ENST00000394230.2_Missense_Mutation_p.R657H|ITGA7_ENST00000347027.6_Missense_Mutation_p.R647H|ITGA7_ENST00000555728.1_Missense_Mutation_p.R697H|ITGA7_ENST00000394229.2_Missense_Mutation_p.R653H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R653H			Q13683	ITA7_HUMAN	integrin, alpha 7	697					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTACAGAAGCGGGCGCGGAC	0.587000													10	63					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264899	231264899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:231264899G>A	ENST00000243810.6	+	15	1255	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	SP140L_ENST00000415673.2_Missense_Mutation_p.D419N|SP140L_ENST00000396563.4_Missense_Mutation_p.D384N|SP140L_ENST00000444636.1_Missense_Mutation_p.D419N			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	419						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GTTCTGTTGCGACACTTGTTC	0.498000													17	49					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	rs143317071		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:98731338G>A	ENST00000336273.3	+	10	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_ENST00000519934.1_Missense_Mutation_p.R425H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	481					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333000													19	57					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134659584	134659584	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr10:134659584G>T	ENST00000368586.5	-	44	6515	c.6415C>A	c.(6415-6417)Cag>Aag	p.Q2139K	TTC40_ENST00000263170.5_Missense_Mutation_p.Q300K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	300										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCAGCCTCTGCTCCACACGG	0.677000													5	23					0.248553	0.250232	1	1	0
FAM188B	84182	broad.mit.edu	37	7	30831154	30831154	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:30831154C>T	ENST00000265299.6	+	5	1114	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	346										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGAAAGAGCGTTCAAACGG	0.557000													10	40					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530496	47530496	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:47530496C>G	ENST00000426342.1	-	7	1333	c.587G>C	c.(586-588)gGa>gCa	p.G196A	MDGA2_ENST00000439988.2_Missense_Mutation_p.G425A|MDGA2_ENST00000399232.2_Missense_Mutation_p.G494A|MDGA2_ENST00000357362.3_Missense_Mutation_p.G196A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	425	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATCAGATATTCCTCCTCCCTT	0.373000													23	114					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232786	172232786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:172232786C>T	ENST00000241261.2	-	2	257	c.135G>A	c.(133-135)atG>atA	p.M45I	TNFSF10_ENST00000420541.2_Missense_Mutation_p.M45I	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	45					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACTTGTCCTGCATCTGGGTTG	0.383000													20	84					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44638054	44638054	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:44638054C>T	ENST00000332990.5	-	3	253	c.237G>A	c.(235-237)gaG>gaA	p.E79E		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	79						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ACATGAGCATCTCTGATGGAA	0.398000													8	32					0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124624128	124624128	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:124624128T>C	ENST00000278927.5	-	6	968	c.839A>G	c.(838-840)gAg>gGg	p.E280G	ESAM_ENST00000442070.2_Missense_Mutation_p.E101G	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	280					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		ATTGGCTGGCTCCTCCAGGGC	0.612000													7	45					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068752	22068752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:22068752C>A	ENST00000261200.4	-	5	665	c.666G>T	c.(664-666)ttG>ttT	p.L222F	ABCC9_ENST00000345162.2_Missense_Mutation_p.L222F|ABCC9_ENST00000261201.4_Missense_Mutation_p.L222F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	222					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTTTGACAGCAAATTCACAA	0.388000													13	54					0.00185496	0.00191937	1	1	0
AK5	26289	broad.mit.edu	37	1	78001608	78001608	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:78001608G>A	ENST00000344720.5	+	13	2453	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	AK5_ENST00000354567.2_Missense_Mutation_p.R502Q|AK5_ENST00000478255.1_Missense_Mutation_p.R17Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	502					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CAAAGGAGCCGGAGCAGCCTG	0.577000													12	24					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtctgcagcagctggacacac	0.652000													4	52					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	82072745	82072745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:82072745G>C	ENST00000356860.3	-	1	369	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11V|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L11V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11						voltage-gated calcium channel complex	metal ion binding	p.L11V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAAAGTGTCAGAGTCAAGGCC	0.672000													5	20					0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18464161	18464161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:18464161C>T	ENST00000377603.4	+	9	1290	c.910C>T	c.(910-912)Cca>Tca	p.P304S	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	304					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						TGAGATTTCACCATCTAACTG	0.308000													6	21					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58838631	58838631	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:58838631C>T	ENST00000355431.3	+	24	4071	c.3698C>T	c.(3697-3699)tCt>tTt	p.S1233F	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1164F|ARID4A_ENST00000348476.3_Missense_Mutation_p.S1164F|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1179F	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1233					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCATGTCATCTGCTTCATCA	0.423000													6	20					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286682	152286682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:152286682C>T	ENST00000368799.1	-	3	715	c.680G>A	c.(679-681)tGg>tAg	p.W227*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	227					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTATCCATTTTTGAGT	0.348000									Ichthyosis				19	87					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187518286	187518286	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr4:187518286G>C	ENST00000441802.2	-	25	12617	c.12408C>G	c.(12406-12408)tgC>tgG	p.C4136W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4136	EGF-like 5; calcium-binding (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCCGTGCAGGCAAGGGTTTC	0.582000										HNSCC(5;0.00058)			11	9					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11027111	11027111	+	Silent	SNP	C	C	T	rs148487813		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:11027111C>T	ENST00000327064.4	+	7	1066	c.876C>T	c.(874-876)gtC>gtT	p.V292V	CARM1_ENST00000344150.4_Silent_p.V292V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	292					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTGGTGACGTCCACCTTGCAC	0.602000													6	34					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83616598	83616598	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:83616598C>G	ENST00000297977.5	-	5	1439	c.1328G>C	c.(1327-1329)aGt>aCt	p.S443T	HDX_ENST00000506585.2_Missense_Mutation_p.S385T|HDX_ENST00000373177.2_Missense_Mutation_p.S443T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTCTCGGTCACTGAACTGAGT	0.368000													7	18					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30070268	30070268	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:30070268G>A	ENST00000201979.2	+	4	895	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	201					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTGGCCCGCTGCCGAGAA	0.612000													5	38					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100173357	100173357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:100173357C>T	ENST00000310300.6	-	17	1877	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E157K	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	609	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGACAGGCTTCTAGAAAACTC	0.562000													62	138					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77914856	77914856	+	Missense_Mutation	SNP	C	C	T	rs144078420		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:77914856C>T	ENST00000553888.1	-	7	995	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	VIPAS39_ENST00000556412.1_Missense_Mutation_p.R188Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R113Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R162Q|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R162Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R149Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CCGGAGACGTCGCACTGTATC	0.468000													12	50					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486062	17486062	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr8:17486062A>T	ENST00000541323.1	+	5	1017	c.572A>T	c.(571-573)cAg>cTg	p.Q191L	PDGFRL_ENST00000251630.6_Missense_Mutation_p.Q191L|PDGFRL_ENST00000398074.3_Missense_Mutation_p.Q191L	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	191						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CCGGACAGACAGGCTGTGGTT	0.522000													14	48					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357626	46357626	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr13:46357626G>A	ENST00000400405.2	-	2	808	c.702C>T	c.(700-702)tgC>tgT	p.C234C		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	234					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGAGGACGAGGCAGTCCCCGT	0.612000													17	56					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													4	48					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27406950	27406950	+	Missense_Mutation	SNP	C	C	G	rs143913282		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:27406950C>G	ENST00000379214.4	-	5	910	c.467G>C	c.(466-468)cGg>cCg	p.R156P	LGR4_ENST00000480977.2_Missense_Mutation_p.R108P|LGR4_ENST00000389858.4_Missense_Mutation_p.R132P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	156						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCACAGATGCCGTAACTGAAC	0.507000													12	46					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29632280	29632280	+	Silent	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:29632280G>T	ENST00000330927.4	-	2	502	c.348C>A	c.(346-348)tcC>tcA	p.S116S	EVI2B_ENST00000544462.1_Silent_p.S131S|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000577894.1_Silent_p.S116S	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	116						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CTTGCTGGGAGGAGGTGTTGG	0.463000													50	182					1.47857e-17	1.61991e-17	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432536	73432536	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr3:73432536G>A	ENST00000263666.4	-	10	3295	c.3181C>T	c.(3181-3183)Cta>Tta	p.L1061L	PDZRN3_ENST00000479530.1_Silent_p.L778L|PDZRN3_ENST00000535920.1_Silent_p.L783L|PDZRN3_ENST00000462146.2_Silent_p.L718L|PDZRN3_ENST00000466780.1_Silent_p.L718L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1061							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCACCGATAGGAAGGAATTG	0.433000													23	83					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600793	147600793	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:147600793C>T	ENST00000361727.3	+	14	2751	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	745	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542000										HNSCC(39;0.1)			6	19					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96368042	96368042	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:96368042A>T	ENST00000261208.3	-	21	2310	c.1942T>A	c.(1942-1944)Tcc>Acc	p.S648T	HAL_ENST00000541929.1_Missense_Mutation_p.S440T|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	648					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATTTTGGTGGATTTCTTGTGC	0.433000													27	90					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67650732	67650732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:67650732C>G	ENST00000264010.4	+	5	1481	c.1037C>G	c.(1036-1038)aCc>aGc	p.T346S	CTCF_ENST00000401394.1_Missense_Mutation_p.T18S	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	346					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TACAAACACACCCACGAGAAG	0.478000													43	153					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27352634	27352634	+	Silent	SNP	G	G	C	rs146000122	byFrequency	TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:27352634G>C	ENST00000316470.4	+	6	744	c.630G>C	c.(628-630)ctG>ctC	p.L210L		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	210						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTGGTGCTGAATCACCTGG	0.547000													13	51					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318816	10318816	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:10318816C>T	ENST00000403437.2	-	7	715	c.621G>A	c.(619-621)aaG>aaA	p.K207K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	207	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCTTCTTCTTCTCTCCAG	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				23	60					0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1861837	1861837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr11:1861837C>T	ENST00000381906.1	+	5	206	c.137C>T	c.(136-138)gCg>gTg	p.A46V	TNNI2_ENST00000381905.3_Missense_Mutation_p.A46V|TNNI2_ENST00000252898.7_Missense_Mutation_p.A46V|TNNI2_ENST00000381911.1_Missense_Mutation_p.A46V	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	46	Involved in binding TNC.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACTACCTGGCGGAGCACTGC	0.682000													6	25					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179563430	179563430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:179563430G>A	ENST00000393371.2	-	3	682	c.386C>T	c.(385-387)tCg>tTg	p.S129L	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S129L|RASGEF1C_ENST00000522500.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	129	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGATAGTCGACTCTTCCTG	0.677000													3	2					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31484543	31484543	+	Silent	SNP	C	C	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:31484543C>T	ENST00000322054.5	+	5	1329	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	348					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGCACCAGATCTCACCTGGGG	0.587000													17	91					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139404216	139404216	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr9:139404216A>C	ENST00000277541.6	-	18	3013	c.2938T>G	c.(2938-2940)Tgt>Ggt	p.C980G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	980	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTCTCACAGTGGATCCCG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	71					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221054616	221054616	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr1:221054616G>A	ENST00000366903.6	+	2	2174	c.673G>A	c.(673-675)Gca>Aca	p.A225T	HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	225					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A225T(1)		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)		CCAGTTCTTCGCATCTCTAGA	0.567000													23	73					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1471372	1471372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chrX:1471372G>T	ENST00000331035.4	+	6	938	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	IL3RA_ENST00000381469.2_Missense_Mutation_p.D119Y	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	197						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCTGCACAGATAAGTTTGT	0.572000													18	45					9.16793e-09	9.6881e-09	1	1	0
THOP1	7064	broad.mit.edu	37	19	2811699	2811699	+	Silent	SNP	G	G	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr19:2811699G>A	ENST00000307741.6	+	12	2078	c.1875G>A	c.(1873-1875)acG>acA	p.T625T	THOP1_ENST00000586677.1_Silent_p.T504T|THOP1_ENST00000395212.4_Silent_p.T136T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	625					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCCACACGCGCTTCAAGC	0.622000													12	49					0	0	1	0	0
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)cccfs	p.P216fs	WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													16	121	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202149977	202149978	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr2:202149977_202149978delAC	ENST00000358485.4	+	8	1614_1615	c.1418_1419delAC	c.(1417-1419)afs	p.N473fs	CASP8_ENST00000264274.9_Frame_Shift_Del_p.N330fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.N431fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Frame_Shift_Del_p.N399fs|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Frame_Shift_Del_p.N414fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	414					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCTACCGAAACCCTGCAGAGG	0.490										HNSCC(4;0.00038)			11	46	---	---	---	---					
FGFR4	2264	broad.mit.edu	37	5	176516626	176516627	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr5:176516626_176516627insG	ENST00000292408.4	+	2	268_269	c.23_24insG	c.(22-24)tggfs	p.W8fs	FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000393648.2_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000292410.3_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000393637.1_Frame_Shift_Ins_p.W8fs|FGFR4_ENST00000502906.1_Frame_Shift_Ins_p.W8fs	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	8					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTGGCCCTGTTGGGGGTCCTGC	0.604										TSP Lung(9;0.080)			9	18	---	---	---	---					
RIMS1	22999	broad.mit.edu	37	6	73043310	73043311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr6:73043310_73043311insC	ENST00000264839.7	+	25	3685_3686	c.3685_3686insC	c.(3685-3687)cccfs	p.P1229fs	RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.P186fs|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000521978.1_Frame_Shift_Ins_p.P1380fs|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.P1203fs|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.P700fs|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1380					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTTCATTTACCCCCAAAATG	0.381													4	8	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151848643	151848644	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr7:151848643_151848644insA	ENST00000355193.2	-	51	12938_12939	c.12720_12721insT	c.(12718-12723)tcgtcafs	p.S4241fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.S4184fs					lysine (K)-specific methyltransferase 2C																		ATACCATGACTAGAATCCTTAT	0.391													19	36	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49434709	49434709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:49434709delG	ENST00000301067.7	-	31	6843	c.6844delC	c.(6844-6846)ggfs	p.R2282fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGGCCTTCCGGGACTCCCCA	0.627													7	34	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49443640	49443641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr12:49443640_49443641insC	ENST00000301067.7	-	11	3729_3730	c.3730_3731insG	c.(3730-3732)ctcfs	p.L1244fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATCCGTAGAGACCCCCAACTCC	0.604													24	80	---	---	---	---					
DHRS1	115817	broad.mit.edu	37	14	24761870	24761871	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr14:24761870_24761871delCA	ENST00000288111.7	-	5	770_771	c.494_495delTG	c.(493-495)gfs	p.V165fs	DHRS1_ENST00000396813.1_Frame_Shift_Del_p.V165fs	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	165						endoplasmic reticulum	binding|oxidoreductase activity	p.V165V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CAGCTTTGCCCACACCATAGGG	0.550													14	63	---	---	---	---					
PDF	64146	broad.mit.edu	37	16	69362955	69362956	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr16:69362955_69362956insG	ENST00000288022.1	-	2	725_726	c.701_702insC	c.(700-702)aaafs	p.K234fs	COG8_ENST00000306875.4_3'UTR	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	234					N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity			NS(1)|prostate(1)	2						AATAGACGTTTGTGAACGTCCT	0.530													31	125	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62757842	62757843	+	RNA	INS	-	-	A	rs79383345		TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr17:62757842_62757843insA	ENST00000400873.3	-	0	1605					NR_026899.1																						gactccgtctcaaaaaaaaaaa	0.416													3	6	---	---	---	---					
GFRA4	64096	broad.mit.edu	37	20	3641469	3641469	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45V-01A-21D-A25D-08	TCGA-CV-A45V-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae981b6-f98e-4c58-bc42-468444ee090b	57f7f54b-0b2e-4555-b312-d1c7351f7cca	g.chr20:3641469delG	ENST00000290417.2	-	3	434	c.435delC	c.(433-435)ccfs	p.P145fs	GFRA4_ENST00000319242.3_Frame_Shift_Del_p.Q172fs	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	151						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CGGGGGCGCTGGGCGCTGGGG	0.796													2	4	---	---	---	---