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
OR1S1	219959	broad.mit.edu	37	11	57982884	57982884	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:57982884C>T	ENST00000309433.6	+	1	668	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATCATCTTCCCCTTTACACTC	0.443000													8	97					0	0	1	0	0
PRICKLE1	0	broad.mit.edu	37	12	42860093	42860093	+	Silent	SNP	T	T	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:42860093T>A	ENST00000455697.1	-	6	963	c.678A>T	c.(676-678)ggA>ggT	p.G226G	PRICKLE1_ENST00000445766.2_Silent_p.G226G|PRICKLE1_ENST00000345127.3_Silent_p.G226G|PRICKLE1_ENST00000552240.1_Silent_p.G226G|PRICKLE1_ENST00000548696.1_Silent_p.G226G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	226	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACCTCTGTCCTCCCAGGACCG	0.488000													10	82					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142481317	142481317	+	RNA	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:142481317G>A	ENST00000603901.1	+	0	391					NR_001296.3																						TCTGCCCACTGCCCCTCCAGC	0.547000													6	36					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24176338	24176338	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:24176338C>T	ENST00000344921.6	+	9	1363	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	SMARCB1_ENST00000407082.3_Missense_Mutation_p.R331C|SMARCB1_ENST00000263121.7_Missense_Mutation_p.R377C|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R368C			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	377					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCGGATGAGGCGTCTTGCCAA	0.647000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							3	8					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56301648	56301648	+	Silent	SNP	T	T	C			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:56301648T>C	ENST00000309964.4	-	22	2725	c.2475A>G	c.(2473-2475)caA>caG	p.Q825Q	CLOCK_ENST00000381322.1_Silent_p.Q825Q|CLOCK_ENST00000513440.1_Silent_p.Q825Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	825	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTTGCTGCTGTTGCTGAGACT	0.527000													55	76					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25453232	25453232	+	RNA	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:25453232G>A	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						CCTCGGTTGGGTCGATGATGA	0.532000													11	364					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													3	42					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342947	101342947	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:101342947C>A	ENST00000344327.3	-	8	2550	c.2126G>T	c.(2125-2127)gGa>gTa	p.G709V	TRPC6_ENST00000360497.4_Missense_Mutation_p.G654V|TRPC6_ENST00000532133.1_Missense_Mutation_p.G631V|TRPC6_ENST00000348423.4_Missense_Mutation_p.G593V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	709					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATTATAGACTCCATAAAGAAC	0.328000													4	85					0.00909568	0.00922028	1	1	0
VGLL3	389136	broad.mit.edu	37	3	87018080	87018080	+	Silent	SNP	A	A	G			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:87018080A>G	ENST00000398399.2	-	3	960	c.597T>C	c.(595-597)ccT>ccC	p.P199P	VGLL3_ENST00000383698.3_Silent_p.P199P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGCAGGGGGAGGGGCTGGGC	0.587000													6	189					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345098	235345098	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:235345098T>C	ENST00000264183.3	-	20	3633	c.3136A>G	c.(3136-3138)Aca>Gca	p.T1046A	ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000366603.2_Missense_Mutation_p.T1046A|ARID4B_ENST00000349213.3_Missense_Mutation_p.T960A	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1046					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTGATACTGTTACAGAAGAC	0.473000													34	28					0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57928086	57928086	+	Silent	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:57928086G>A	ENST00000548249.1	-	6	780	c.513C>T	c.(511-513)ggC>ggT	p.G171G	DCTN2_ENST00000434715.3_Silent_p.G176G|DCTN2_ENST00000543672.1_Silent_p.G176G|DCTN2_ENST00000537439.1_Silent_p.G148G	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	171					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TAGCCAGGGCGCCATCGGGGT	0.562000													5	103					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118499068	118499068	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:118499068G>A	ENST00000361417.2	+	7	1940	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G510E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	510										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGACGCTGGGGGCACGGGGC	0.662000													4	39					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62574689	62574689	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:62574689T>C	ENST00000262435.9	-	9	965	c.778A>G	c.(778-780)Agg>Ggg	p.R260G	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	260	WW 2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGCGTTGTCCTCTGTTCTGTA	0.373000													15	26					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142481316	142481316	+	RNA	SNP	T	T	C	rs140068138	by1000genomes	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:142481316T>C	ENST00000603901.1	+	0	390					NR_001296.3																						CTCTGCCCACTGCCCCTCCAG	0.547000													6	36					0	0	1	0	0
FAM166B	730112	broad.mit.edu	37	9	35563276	35563276	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:35563276C>T	ENST00000399742.2	-	2	243	c.173G>A	c.(172-174)cGc>cAc	p.R58H	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	58										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CAGAAGTGTGCGGTGGACAGG	0.617000													4	171					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													5	96					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81324040	81324040	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:81324040C>T	ENST00000258168.2	+	11	1963	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	BCMO1_ENST00000425577.2_Missense_Mutation_p.A432V	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	501					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACGGAATTGGCCCGTGCCTCT	0.458000													4	126					0	0	1	0	0
TSIX	0	broad.mit.edu	37	X	73047136	73047136	+	RNA	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chrX:73047136G>A	ENST00000604411.1	+	0	35097				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACACACACACGTACACTTGCC	0.458000													4	78					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979112	46979112	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:46979112C>T	ENST00000264318.3	-	5	1525	c.543G>A	c.(541-543)atG>atA	p.M181I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	181					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGACCATCCATGGGAAAAT	0.333000													7	35					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491722	1491722	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:1491722C>A	ENST00000345913.4	+	10	1818	c.1727C>A	c.(1726-1728)gCg>gAg	p.A576E	TPO_ENST00000382198.1_Missense_Mutation_p.A403E|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A403E|TPO_ENST00000337415.3_Missense_Mutation_p.A576E|TPO_ENST00000346956.3_Missense_Mutation_p.A576E|TPO_ENST00000329066.4_Missense_Mutation_p.A576E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	576					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A576E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592000													59	63					2.44813e-32	2.66415e-32	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453000													6	212					0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498000													4	82					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								25	47					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678653	100678653	+	Missense_Mutation	SNP	C	C	T	rs144372503	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:100678653C>T	ENST00000306151.4	+	3	4020	c.3956C>T	c.(3955-3957)cCt>cTt	p.P1319L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1319	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCATCTCCTACACCTGCT	0.478000													32	451					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691295	26691295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:26691295C>T	ENST00000436292.1	-	4	862	c.742G>A	c.(742-744)Gct>Act	p.A248T	ZNF683_ENST00000403843.1_Missense_Mutation_p.A248T|ZNF683_ENST00000374204.1_Missense_Mutation_p.A248T|ZNF683_ENST00000349618.3_Missense_Mutation_p.A248T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TCCCACCGAGCGCTGGGGTGC	0.642000													51	7					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:139412381G>A	ENST00000277541.6	-	8	1339	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; 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	p.P422S(2)		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)		TGCTCGCAGGGGTTGGCACCT	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			5	67					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278274	94278274	+	Silent	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:94278274C>T	ENST00000358752.2	+	1	1258	c.975C>T	c.(973-975)gaC>gaT	p.D325D		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	325					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGACTCGGACGTCTTTGTGC	0.647000													24	61					0	0	1	0	0
ITGAL	0	broad.mit.edu	37	16	30485546	30485546	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30485546C>T	ENST00000356798.6	+	2	271	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	ITGAL_ENST00000454514.2_Missense_Mutation_p.R31W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R31W|ITGAL_ENST00000358164.5_Missense_Mutation_p.R31W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	31					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTGGACGTGCGGGGCGCGCG	0.706000													7	15					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10426541	10426541	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:10426541A>T	ENST00000274140.5	+	24	2545	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	MARCH6_ENST00000503788.1_Missense_Mutation_p.I700F|MARCH6_ENST00000510792.1_Missense_Mutation_p.I503F|MARCH6_ENST00000449913.2_Missense_Mutation_p.I757F	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	805					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTTCACTATATTGTTCGTAA	0.403000													17	153					0	0	1	0	0
IGHV4OR15-8	0	broad.mit.edu	37	15	22473194	22473194	+	RNA	SNP	G	G	C			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:22473194G>C	ENST00000557788.2	-	0	76																											TCCTGGGCCCGACTCCTGCAG	0.617000													4	204					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388217	131388217	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:131388217G>A	ENST00000372739.3	+	48	6349	c.6239G>A	c.(6238-6240)cGc>cAc	p.R2080H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2075H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2080H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2075					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCAGCCGCCCGCAAGAAGAAG	0.617000													5	172					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994632	72994632	+	Silent	SNP	A	A	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:72994632A>T	ENST00000308744.6	+	2	728	c.630A>T	c.(628-630)atA>atT	p.I210I	NPFFR2_ENST00000358749.3_Silent_p.I108I|NPFFR2_ENST00000395999.1_Silent_p.I111I|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	210					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACAATATTATAGCAGGTATGT	0.368000													37	55					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848836	49848836	+	Missense_Mutation	SNP	C	C	T	rs12486358		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:49848836C>T	ENST00000333486.3	-	9	1150	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	331	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ttccTCTGTCCGCTTCAGTGG	0.602000													5	34					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143094941	143094941	+	Silent	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:143094941G>A	ENST00000513000.1	-	17	1636	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y	INPP4B_ENST00000262992.4_Silent_p.Y401Y|INPP4B_ENST00000509777.1_Silent_p.Y401Y|INPP4B_ENST00000308502.4_Silent_p.Y401Y|INPP4B_ENST00000508116.1_Silent_p.Y401Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	401					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAGGTGAATAGTAAATAAACT	0.368000													7	117					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520245	176520245	+	Silent	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:176520245G>A	ENST00000292408.4	+	9	1409	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000502906.1_Silent_p.G388G|FGFR4_ENST00000292410.3_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	388			G -> R (in dbSNP:rs351855).		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)	TGCTGGCCGGGCTGTATCGAG	0.701000										TSP Lung(9;0.080)			4	67					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													4	68					0	0	1	0	0
ERVW-1	0	broad.mit.edu	37	7	92098299	92098299	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:92098299G>T	ENST00000493463.2	-	1	2320	c.1397C>A	c.(1396-1398)cCc>cAc	p.P466H	ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.P466H|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		466	Essential for the fusiogenic function.				syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						aaagatacagggtccaaagag	0.478000													3	32					0.115264	0.115264	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:48609570C>T	ENST00000328333.8	-	90	7120	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2306Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2338	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2338Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGCGGCCCTGG	0.612000													25	29					0	0	1	0	0
MBD5	0	broad.mit.edu	37	2	149227787	149227787	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:149227787G>A	ENST00000407073.1	+	9	3272	c.2275G>A	c.(2275-2277)Gtg>Atg	p.V759M	MBD5_ENST00000404807.1_Missense_Mutation_p.V759M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	759						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGGGAAGCCGTGCACTGCCA	0.448000													51	57					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24080638	24080638	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:24080638G>A	ENST00000418390.2	+	6	1935	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	555	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACTGGGCGCAGAATGAATTCC	0.448000													45	7					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796331	42796331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796331C>T	ENST00000572681.2	+	13	5775	c.5707C>T	c.(5707-5709)Cag>Tag	p.Q1903*	CIC_ENST00000160740.3_Nonsense_Mutation_p.Q994*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q994*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q994*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCTCAGCCTCAGAAGGTCCT	0.662000			"""Mis, F, S"""		oligodendroglioma								24	38					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27472227	27472227	+	Silent	SNP	A	A	G			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr8:27472227A>G	ENST00000560366.1	-	1	100	c.72T>C	c.(70-72)agT>agC	p.S24S	CLU_ENST00000316403.10_5'UTR	NM_001831.3	NP_001822.3	P10909	CLUS_HUMAN	clusterin	0					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)		CGTTGTGGGCACTGGGAGGCG	0.652000											OREG0018671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	106	104					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281321	45281321	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:45281321C>T	ENST00000270279.3	+	1	196	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	CBLC_ENST00000341505.4_Missense_Mutation_p.R45W	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	45	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCTTCGCTGCGGGACCTGCT	0.746000			M		AML								5	45					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41322384	41322384	+	Missense_Mutation	SNP	C	C	T	rs144166618		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:41322384C>T	ENST00000357137.4	+	10	1553	c.1469C>T	c.(1468-1470)gCa>gTa	p.A490V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A467V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	490					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATCCTTTCTGCAGACTGTCCC	0.498000													5	231					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061883	11061883	+	Silent	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:11061883C>T	ENST00000390677.2	-	1	278	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	5					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGATACTCGGCAGGGCACTTT	0.383000													7	41					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811917	116811917	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:116811917G>A	ENST00000288466.7	+	14	2155	c.2056G>A	c.(2056-2058)Ggc>Agc	p.G686S	ZNF618_ENST00000374126.5_Missense_Mutation_p.G779S|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAACGACGCAGGCACTGTCAG	0.627000													12	117					0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:225266211G>A	ENST00000389874.3	-	1	500	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000409685.3_Missense_Mutation_p.S92L	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	92							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582000													31	36					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977072	12977072	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:12977072G>A	ENST00000273221.4	-	3	1702	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	496					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTGCTCCCGCAGGCTGTCA	0.582000													4	128					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038807	11038807	+	RNA	SNP	T	T	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr21:11038807T>A	ENST00000470054.1	-	0	1396									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGGAGTGACTGAGATGTAAG	0.428000													5	328					0	0	1	0	0
GPR68	0	broad.mit.edu	37	14	91700786	91700786	+	Silent	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr14:91700786C>T	ENST00000535815.1	-	2	949	c.609G>A	c.(607-609)gcG>gcA	p.A203A	GPR68_ENST00000531499.2_Silent_p.A203A|GPR68_ENST00000238699.3_Silent_p.A213A	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	203					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTGGTAGGACGCCAGCAGCA	0.652000													9	29					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286155	152286155	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:152286155C>T	ENST00000368799.1	-	3	1242	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	403	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)			GAAGCTTGCCCGCGCCCAGTG	0.562000									Ichthyosis				116	499					0	0	1	0	0
USP32P3	0	broad.mit.edu	37	17	20319971	20319971	+	RNA	SNP	G	G	A	rs71263795		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:20319971G>A	ENST00000583574.2	+	0	300																											CTCTCATTACGCTTGATTGCC	0.557000													4	146					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565972	37565972	+	Silent	SNP	T	T	A			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:37565972T>A	ENST00000300651.6	-	17	2725	c.2502A>T	c.(2500-2502)ccA>ccT	p.P834P	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	834	Interaction with ESR1.				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)		GATCAGTGTATGGATTTTCAT	0.433000										HNSCC(31;0.082)			20	84					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850					NR_040113.1																						CTCACCTAATGTATAAGATGGA	0.327													7	150	---	---	---	---					
ZNF654	55279	broad.mit.edu	37	3	88188745	88188748	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:88188745_88188748delACTT	ENST00000309495.5	+	1	492_495	c.285_288delACTT	c.(283-288)acfs	p.TL95fs	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAGTGGAGACACTTACTGCTTCTA	0.358													8	43	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-	rs71180116		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)del	p.Q38del		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704													3	4	---	---	---	---					
SYCP2L	221711	broad.mit.edu	37	6	10955433	10955436	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr6:10955433_10955436delAAGA	ENST00000283141.6	+	24	2335_2338	c.2039_2042delAAGA	c.(2038-2043)gafs	p.EE680fs		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	680						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCAATAACAGAAGAAAGAGAGTTG	0.451											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	101	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													12	55	---	---	---	---					
PRPF18	8559	broad.mit.edu	37	10	13655742	13655744	+	Splice_Site	DEL	TTC	TTC	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr10:13655742_13655744delTTC	ENST00000378572.3	+	7	741_743	c.579_splice	c.e7-1	p.FL194_splice		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	194					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTCAACAGTTTCTTCTTGGCGT	0.429													16	72	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113126648	113126649	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:113126648_113126649delCT	ENST00000316851.7	+	14	1848_1849	c.1848_1849delCT	c.(1846-1851)aactfs	p.NS616fs	NCAM1_ENST00000533760.1_Frame_Shift_Del_p.NS498fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	626	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGATGGAAACTCTATTAAAGT	0.500													12	17	---	---	---	---					
ZMYM2	7750	broad.mit.edu	37	13	20577051	20577052	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr13:20577051_20577052delTT	ENST00000382869.3	+	4	1160_1161	c.909_910delTT	c.(907-912)tctafs	p.SL303fs	ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.SL303fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.SL216fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.SL303fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGGTGGACTCTTTATCACCAGT	0.421													100	109	---	---	---	---					
TPTE2P6	0	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													4	6	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25436774	25436776	+	RNA	DEL	CTC	CTC	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:25436774_25436776delCTC	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CTTCTCCGTGCTCCTCTGTGAGG	0.586													9	57	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57526268	57526269	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57526268_57526269delCA	ENST00000267811.5	+	12	1302_1303	c.998_999delCA	c.(997-999)tfs	p.S333fs	TCF12_ENST00000452095.2_Frame_Shift_Del_p.S329fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.S97fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S163fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S163fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S333fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S333fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S333fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	333					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTGGAAGCTCACAGACAGGTG	0.356			T	TEC	extraskeletal myxoid chondrosarcoma								15	59	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57565414	57565416	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57565414_57565416delTCA	ENST00000267811.5	+	18	2164_2166	c.1860_1862delTCA	c.(1858-1863)ctt>ct	p.LH620del	TCF12_ENST00000452095.2_In_Frame_Del_p.LH640del|TCF12_ENST00000537840.1_In_Frame_Del_p.LH384del|TCF12_ENST00000343827.3_In_Frame_Del_p.LH450del|TCF12_ENST00000543579.1_In_Frame_Del_p.LH474del|TCF12_ENST00000438423.2_In_Frame_Del_p.LH644del|TCF12_ENST00000333725.5_In_Frame_Del_p.LH644del|TCF12_ENST00000557843.1_In_Frame_Del_p.LH620del|TCF12_ENST00000559710.1_In_Frame_Del_p.LH254del|TCF12_ENST00000559703.1_In_Frame_Del_p.LH277del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	620	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCCTTATTCTTCATCAAGCCGTG	0.448			T	TEC	extraskeletal myxoid chondrosarcoma								39	21	---	---	---	---					
ZNF689	115509	broad.mit.edu	37	16	30616099	30616101	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30616099_30616101delGAG	ENST00000287461.3	-	3	1324_1326	c.987_989delCTC	c.(985-990)tct>tc	p.SS329del	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GACCAGGCGAGAGGAGGAGGAGA	0.700													14	39	---	---	---	---					
CEP89	84902	broad.mit.edu	37	19	33392289	33392292	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:33392289_33392292delCTTT	ENST00000305768.4	-	15	1680_1683	c.1592_1595delAAAG	c.(1591-1596)ggfs	p.ER531fs		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	531						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CATCTCAGCCCTTTCTTTCTCTTC	0.451													27	67	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796905_42796906delTG	ENST00000572681.2	+	15	6155_6156	c.6087_6088delTG	c.(6085-6090)actgfs	p.TV2029fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.TV1121fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV1120fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"""Mis, F, S"""		oligodendroglioma								19	79	---	---	---	---