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
GGNBP2	79893	broad.mit.edu	37	17	34945780	34945780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:34945780G>A	ENST00000304718.4	+	14	2349	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	678					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAATACTGCCGGTTAAATGAT	0.373000													55	129					0	0	0.000781405	0	0
NR3C1	2908	broad.mit.edu	37	5	142675046	142675046	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:142675046T>G	ENST00000343796.2	-	7	2995	c.2002A>C	c.(2002-2004)Acc>Ccc	p.T668P	NR3C1_ENST00000416954.2_Missense_Mutation_p.T271P|NR3C1_ENST00000394466.2_Missense_Mutation_p.T669P|NR3C1_ENST00000231509.3_Missense_Mutation_p.T669P|NR3C1_ENST00000424646.2_Missense_Mutation_p.T642P|NR3C1_ENST00000394464.2_Missense_Mutation_p.T668P|NR3C1_ENST00000503201.1_Missense_Mutation_p.T668P|NR3C1_ENST00000504572.1_Missense_Mutation_p.T669P|NR3C1_ENST00000415690.2_Missense_Mutation_p.T668P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	668	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGCAGTAAGGTTTTCATACAG	0.378000													9	38					0	0	0.000274275	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183380	167183380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:167183380C>A	ENST00000476257.1	-	5	858	c.560G>T	c.(559-561)gGa>gTa	p.G187V	SERPINI2_ENST00000471111.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G187V			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	187					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTTCCAATCTCCTTTGAAATA	0.388000													15	35					3.27435e-08	1.69781e-07	0.00244969	1	0
MMS19	64210	broad.mit.edu	37	10	99228076	99228076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:99228076C>T	ENST00000438925.2	-	13	1486	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	MMS19_ENST00000327238.10_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R384Q|MMS19_ENST00000327277.7_Missense_Mutation_p.R20Q|MMS19_ENST00000355839.6_Missense_Mutation_p.R341Q	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	384					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GTCACAGGCCCGGGCAGATGC	0.552000								Direct reversal of damage					22	74					0	0	0.00152264	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665316	90665316	+	Silent	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:90665316A>G	ENST00000371927.3	+	3	1105	c.147A>G	c.(145-147)cgA>cgG	p.R49R	STAMBPL1_ENST00000371924.1_Silent_p.R49R|STAMBPL1_ENST00000371926.3_Silent_p.R49R			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	49							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TCACTCCACGACGTTACTTTA	0.423000													27	58					0	0	0.000878237	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576387	33576387	+	Silent	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:33576387C>A	ENST00000504830.1	-	19	4079	c.3744G>T	c.(3742-3744)ctG>ctT	p.L1248L	ADAMTS12_ENST00000352040.3_Silent_p.L1163L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1248	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1248L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGAGGGAGCAGAGTGTTGG	0.522000										HNSCC(64;0.19)			56	177					1.46156e-29	8.67025e-29	0.000781405	1	0
ZNF791	163049	broad.mit.edu	37	19	12734543	12734543	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:12734543G>C	ENST00000343325.4	+	2	195	c.33G>C	c.(31-33)gtG>gtC	p.V11V	ZNF791_ENST00000446165.1_Silent_p.V11V|ZNF791_ENST00000458122.3_5'UTR|ZNF791_ENST00000540038.1_Intron|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATGTGTCTGTGAGCTTCAGCC	0.443000													4	132					0	0	0.00024832	0	0
MBTPS1	8720	broad.mit.edu	37	16	84088086	84088086	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:84088086G>T	ENST00000343411.3	-	23	3622	c.3127C>A	c.(3127-3129)Cag>Aag	p.Q1043K		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	1043	Arg/Lys/Pro-rich (basic).				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						GGGTGAACCTGCTGCATGAGC	0.642000													7	26					0.000274275	0.00137138	0.000274275	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789785	140789785	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:140789785G>A	ENST00000520790.1	+	1	2016	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGATACTGCCAGACCTCA	0.607000													66	54					0	0	0.000781405	0	0
BPTF	2186	broad.mit.edu	37	17	65914934	65914934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:65914934G>T	ENST00000321892.4	+	14	5847	c.5786G>T	c.(5785-5787)gGa>gTa	p.G1929V	BPTF_ENST00000306378.6_Missense_Mutation_p.G1803V|BPTF_ENST00000335221.5_Missense_Mutation_p.G1929V|BPTF_ENST00000424123.3_Missense_Mutation_p.G1790V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1929					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTCCTCCAGGAGGAGGGACT	0.493000													33	73					8.16721e-17	4.6861e-16	0.00209593	1	0
EIF3L	51386	broad.mit.edu	37	22	38258977	38258977	+	Splice_Site	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr22:38258977G>A	ENST00000412331.2	+	6	1019	c.435_splice	c.e6-1	p.G146_splice	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Splice_Site_p.G48_splice	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	146						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTTACAGGGGGGACCTTCC	0.383000													19	48					0	0	0.00152264	0	0
DNAH8	1769	broad.mit.edu	37	6	38843598	38843598	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:38843598G>A	ENST00000359357.3	+	51	7455	c.7201G>A	c.(7201-7203)Gat>Aat	p.D2401N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D2618N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D2365N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATGTTACTGATTATGGTAA	0.328000													10	16					0	0	0.000978159	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357005	37357005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:37357005C>T	ENST00000217420.1	+	2	1564	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	434					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGGGGGCTGACGCTGCGCTGC	0.682000													14	41					0	0	0.00185496	0	0
ESRP1	54845	broad.mit.edu	37	8	95677423	95677423	+	Splice_Site	SNP	T	T	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:95677423T>A	ENST00000433389.2	+	9	1120	c.931_splice	c.e9+1	p.G310_splice	ESRP1_ENST00000454170.2_Splice_Site_p.G310_splice|ESRP1_ENST00000423620.2_Splice_Site_p.G310_splice|ESRP1_ENST00000358397.5_Splice_Site_p.G310_splice	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	310					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAATTGCTGGTGGTAAGTGCC	0.343000													8	25					0	0	0.000157383	0	0
S100A11	6282	broad.mit.edu	37	1	152005278	152005278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:152005278G>A	ENST00000271638.2	-	3	297	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	60	EF-hand 2.				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATGCGGTCAAGGACACCAGGG	0.408000													10	54					0	0	0.000978159	0	0
TXNDC16	57544	broad.mit.edu	37	14	53010231	53010231	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:53010231G>C	ENST00000281741.4	-	3	416	c.45C>G	c.(43-45)gtC>gtG	p.V15V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	15					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGCACATTATGACAAAAGAGA	0.378000													16	50					0	0	0.000422831	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945466	48945466	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:48945466G>A	ENST00000263269.3	+	12	2588	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	834						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGACAAAATCGAGGTGATGAG	0.577000													49	124					0	0	0.000781405	0	0
POMGNT1	55624	broad.mit.edu	37	1	46658985	46658985	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:46658985C>T	ENST00000371992.1	-	12	1752	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M	POMGNT1_ENST00000535522.1_Missense_Mutation_p.V346M|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.V368M|POMGNT1_ENST00000371986.3_Missense_Mutation_p.V368M	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	368					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGAGACACGCGGGCATTC	0.587000													13	23					0	0	0.00185496	0	0
TRGV9	6983	broad.mit.edu	37	7	38357071	38357071	+	RNA	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:38357071G>C	ENST00000444775.2	-	0	1391																											TGCCAGCGTTGATGTGTGGAG	0.468000													4	12					0	0	0.00116845	0	0
HEATR5A	25938	broad.mit.edu	37	14	31814337	31814337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:31814337C>T	ENST00000543095.2	-	20	3198	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1005H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R712H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R999H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R999H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	999							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATTCAAACAGCGACCAAGGCT	0.388000													35	111					0	0	0.00058488	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	34					0	0	6.4e-05	0	0
CLSTN1	22883	broad.mit.edu	37	1	9804038	9804038	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:9804038G>C	ENST00000377298.4	-	9	2052	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	CLSTN1_ENST00000361311.4_Silent_p.L410L|CLSTN1_ENST00000377288.3_Silent_p.L420L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	420					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGACATAGAGGGAGTAGT	0.458000													34	72					0	0	0.00058488	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396095	65396095	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:65396095C>T	ENST00000355703.3	+	23	4271	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1244						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTGCGTTTCGTGCTGACCT	0.602000													20	52					0	0	0.00229938	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826562	43826562	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:43826562T>C	ENST00000389420.3	-	20	2772	c.2773A>G	c.(2773-2775)Aga>Gga	p.R925G	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R79G|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R925G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	925	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCAAGGTTCTATATCCTTGA	0.383000													3	176					0	0	6.4e-05	0	0
TRPS1	7227	broad.mit.edu	37	8	116631947	116631947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:116631947G>C	ENST00000395715.3	-	3	955	c.378C>G	c.(376-378)ttC>ttG	p.F126L	TRPS1_ENST00000519674.1_Missense_Mutation_p.F113L|TRPS1_ENST00000520276.1_Missense_Mutation_p.F117L|TRPS1_ENST00000220888.5_Missense_Mutation_p.F113L|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	113					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGGAGATGAGAAAGCCAACA	0.527000									Langer-Giedion syndrome				28	116					0	0	0.00106085	0	0
TNPO2	30000	broad.mit.edu	37	19	12822400	12822400	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:12822400C>T	ENST00000425528.1	-	11	1275	c.918G>A	c.(916-918)atG>atA	p.M306I	TNPO2_ENST00000588216.1_Missense_Mutation_p.M306I|TNPO2_ENST00000356861.5_Missense_Mutation_p.M306I|TNPO2_ENST00000441499.1_Missense_Mutation_p.M306I|TNPO2_ENST00000592287.1_Missense_Mutation_p.M306I|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.M306I			O14787	TNPO2_HUMAN	transportin 2	306					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCGAGTACTTCATCCCATTCA	0.592000													7	25					0	0	0.000157383	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937188	4937188	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:4937188G>T	ENST00000512825.2	-	3	2007	c.596C>A	c.(595-597)gCa>gAa	p.A199E	SLC52A1_ENST00000254853.5_Missense_Mutation_p.A199E|SLC52A1_ENST00000424747.1_Missense_Mutation_p.A199E			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	199						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGCAGTCAGTGCCCAGAAGAA	0.637000													31	81					9.04072e-19	5.23017e-18	0.00058488	1	0
FMN2	56776	broad.mit.edu	37	1	240492663	240492663	+	Silent	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:240492663C>A	ENST00000319653.9	+	10	4562	c.4332C>A	c.(4330-4332)atC>atA	p.I1444I	FMN2_ENST00000545751.1_Silent_p.I40I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1444	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTCACTAATCCCCAACTTTT	0.358000													16	64					1.3612e-06	7.00619e-06	0.000308642	1	0
RLF	6018	broad.mit.edu	37	1	40661334	40661334	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40661334A>T	ENST00000372771.4	+	4	532	c.505A>T	c.(505-507)Aat>Tat	p.N169Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	169					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAATTTGGGAATAATAACCT	0.353000													11	28					0	0	0.000978159	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459965	107459965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:107459965C>T	ENST00000409382.3	-	2	1079	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G157S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G157S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	157					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCCCGTGGGCCTGGCTCCCCG	0.632000													52	129					0	0	0.000781405	0	0
MECOM	2122	broad.mit.edu	37	3	168838947	168838947	+	Silent	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:168838947G>T	ENST00000464456.1	-	6	1665	c.465C>A	c.(463-465)gtC>gtA	p.V155V	MECOM_ENST00000468789.1_Silent_p.V155V|MECOM_ENST00000392736.3_Silent_p.V155V|MECOM_ENST00000460814.1_Silent_p.V155V|MECOM_ENST00000433243.2_Silent_p.V156V|MECOM_ENST00000494292.1_Silent_p.V343V|MECOM_ENST00000472280.1_Silent_p.V156V|MECOM_ENST00000264674.3_Silent_p.V220V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCCGGGCACCGACATGCTGAG	0.522000													16	42					9.16793e-09	4.78922e-08	0.000566183	1	0
DENND4B	9909	broad.mit.edu	37	1	153905172	153905172	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:153905172G>A	ENST00000361217.4	-	23	4123	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1235										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGCCTTCGGTCACTGAGCA	0.627000													22	62					0	0	0.00229938	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445599	42445599	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:42445599G>T	ENST00000381668.5	-	33	3337	c.3106C>A	c.(3106-3108)Cct>Act	p.P1036T	ATP8A1_ENST00000264449.10_Missense_Mutation_p.P1021T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1036					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GACATATCAGGGGCCATCGGA	0.433000													11	28					4.36969e-10	2.31726e-09	0.00185496	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													5	42					0	0	0.000602214	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	59					0	0	0.00024832	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	47					0	0	6.4e-05	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035688	86035688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:86035688G>A	ENST00000414626.2	+	6	1800	c.911G>A	c.(910-912)aGa>aAa	p.R304K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R324K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	324					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGACCCCAGACCAAAAAGA	0.308000													4	155					0	0	0.00024832	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028060	59028060	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:59028060C>T	ENST00000594051.1	-	2	1461	c.981G>A	c.(979-981)ccG>ccA	p.P327P	ZBTB45_ENST00000354590.3_Silent_p.P327P|ZBTB45_ENST00000600990.1_Silent_p.P327P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	327	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGCAACGGGCGGCCCTGGGG	0.692000													12	20					0	0	0.00185496	0	0
STARD3	10948	broad.mit.edu	37	17	37817129	37817129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:37817129G>A	ENST00000336308.5	+	12	1239	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	STARD3_ENST00000580611.1_Missense_Mutation_p.V315M|STARD3_ENST00000394250.4_Missense_Mutation_p.V323M|STARD3_ENST00000544210.2_Missense_Mutation_p.V341M	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	341	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCGGGCGGCGTGGTCTCCCC	0.607000													40	95					0	0	0.000953801	0	0
TMEM2	23670	broad.mit.edu	37	9	74347385	74347385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:74347385C>T	ENST00000377044.4	-	7	1984	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	TMEM2_ENST00000377066.5_Missense_Mutation_p.R419K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	482						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCTCAGCTCTCATGTCTAC	0.408000													5	38					0	0	0.000602214	0	0
DCDC1	341019	broad.mit.edu	37	11	31312208	31312208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:31312208C>A	ENST00000597505.1	-	5	945	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	DCDC1_ENST00000452803.1_Nonsense_Mutation_p.E316*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	316					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCATTGTTTCTTTTCCCACT	0.323000													12	38					5.16669e-11	2.78206e-10	0.000978159	1	0
FPGS	2356	broad.mit.edu	37	9	130572339	130572339	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:130572339A>G	ENST00000373245.1	+	12	1143	c.1093A>G	c.(1093-1095)Atg>Gtg	p.M365V	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.N388S|FPGS_ENST00000373247.2_Missense_Mutation_p.N414S|FPGS_ENST00000373225.3_Missense_Mutation_p.N364S			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	0					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TTGCTCTTCAATGCTACCGGG	0.687000													8	22					0	0	0.000673444	0	0
SGK1	6446	broad.mit.edu	37	6	134495871	134495871	+	Splice_Site	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:134495871G>A	ENST00000237305.7	-	1	163	c.76_splice	c.e1+1	p.I25_splice	SGK1_ENST00000475719.2_Splice_Site_p.I25_splice|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000413996.3_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	25	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCACTCACCGATGAGAATTG	0.542000											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	113					0	0	0.000814825	0	0
SULF1	23213	broad.mit.edu	37	8	70570762	70570762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:70570762G>T	ENST00000260128.4	+	23	3325	c.2608G>T	c.(2608-2610)Gaa>Taa	p.E870*	SULF1_ENST00000458141.2_Nonsense_Mutation_p.E870*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.E870*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E870*|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	870					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGATGGATGGGAAGGTTAATC	0.433000													40	45					8.04919e-23	4.73482e-22	0.000781405	1	0
RECQL4	9401	broad.mit.edu	37	8	145737407	145737407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:145737407C>T	ENST00000428558.2	-	20	3321	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1094					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCGCTCCTCATCCTGCTGC	0.682000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	29					0	0	0.000602214	0	0
ART1	417	broad.mit.edu	37	11	3681420	3681420	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:3681420G>T	ENST00000250693.1	+	3	772	c.671G>T	c.(670-672)tGc>tTc	p.C224F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	224					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ATCTGGACCTGCCTTGGGGCC	0.602000													20	55					8.28177e-16	4.67519e-15	0.000958276	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58021971	58021971	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:58021971G>A	ENST00000341156.4	-	9	1661	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	B4GALNT1_ENST00000418555.2_Silent_p.F304F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	359					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGTGAAGACGAAGTCGTCGT	0.652000													17	75					0	0	0.00074312	0	0
ANKS6	203286	broad.mit.edu	37	9	101552849	101552849	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:101552849G>A	ENST00000540940.1	-	0	36				ANKS6_ENST00000375018.1_Silent_p.H133H|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000353234.4_Silent_p.H133H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6											endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CATCAGCCCCGTGATCCAACA	0.597000													11	29					0	0	0.000673444	0	0
CAP1	10487	broad.mit.edu	37	1	40525048	40525048	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40525048A>T	ENST00000372797.3	+	2	591	c.30A>T	c.(28-30)agA>agT	p.R10S	CAP1_ENST00000372805.3_Missense_Mutation_p.R10S|CAP1_ENST00000372792.2_Missense_Mutation_p.R10S|CAP1_ENST00000372798.1_Missense_Mutation_p.R10S|CAP1_ENST00000372802.1_Missense_Mutation_p.R10S|CAP1_ENST00000340450.3_Missense_Mutation_p.R10S	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	10					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTAGAAAGATTGGAGAGGG	0.453000													27	69					0	0	0.000586117	0	0
ESRP1	54845	broad.mit.edu	37	8	95677422	95677422	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:95677422G>T	ENST00000433389.2	+	9	1119	c.929G>T	c.(928-930)gGt>gTt	p.G310V	ESRP1_ENST00000454170.2_Missense_Mutation_p.G310V|ESRP1_ENST00000423620.2_Missense_Mutation_p.G310V|ESRP1_ENST00000358397.5_Missense_Mutation_p.G310V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	310					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAAATTGCTGGTGGTAAGTGC	0.348000													9	26					0.000274275	0.00137138	0.000274275	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	59					0	0	0.00024832	0	0
DNAJC13	23317	broad.mit.edu	37	3	132166224	132166224	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:132166224C>T	ENST00000260818.6	+	4	452	c.204C>T	c.(202-204)ttC>ttT	p.F68F	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	68							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAACGGAGTTCAACCTCACAT	0.368000													13	69					0	0	0.00185496	0	0
THOP1	7064	broad.mit.edu	37	19	2810358	2810358	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:2810358G>A	ENST00000307741.6	+	10	1715	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P	THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000395212.4_Silent_p.P15P|THOP1_ENST00000586677.1_Silent_p.P383P	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	504					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)		TGGAGGCGCCGTCGCAGATGC	0.682000													17	25					0	0	0.00074312	0	0
DGKK	139189	broad.mit.edu	37	X	50119800	50119800	+	RNA	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chrX:50119800G>A	ENST00000376025.2	-	0	3287							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGCATCTGGGCATACTCC	0.502000													8	10					0	0	0.000157383	0	0
RLF	6018	broad.mit.edu	37	1	40661333	40661333	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40661333G>A	ENST00000372771.4	+	4	531	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	168					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGGAATTTGGGAATAATAACC	0.358000													11	29					0	0	0.000978159	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673457	141673457	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:141673457G>C	ENST00000547270.1	-	1	116	c.33C>G	c.(31-33)tcC>tcG	p.S11S		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	11					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TGACTTCATAGGACACAGTGC	0.433000													19	68					0	0	0.00278032	0	0
WWC1	23286	broad.mit.edu	37	5	167850580	167850580	+	Silent	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:167850580C>G	ENST00000265293.4	+	11	1819	c.1317C>G	c.(1315-1317)ccC>ccG	p.P439P	WWC1_ENST00000521089.1_Silent_p.P439P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	439					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.P439P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCAGCAGCCCCGGATCCCTCA	0.617000													32	111					0	0	0.00178596	0	0
MFSD10	10227	broad.mit.edu	37	4	2934445	2934445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:2934445C>T	ENST00000329687.4	-	4	947	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	138					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCAAAGCTCCGAGAGGTGGC	0.652000													15	64					0	0	0.000566183	0	0
PIGC	5279	broad.mit.edu	37	1	172411603	172411603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:172411603C>T	ENST00000367728.1	-	1	1623	c.160G>A	c.(160-162)Gag>Aag	p.E54K	PIGC_ENST00000344529.4_Missense_Mutation_p.E54K|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.E54K|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	54					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ACACTGGACTCAAATACCACA	0.498000													32	109					0	0	0.0024448	0	0
SMG6	23293	broad.mit.edu	37	17	2200598	2200598	+	Missense_Mutation	SNP	T	T	A	rs143802482		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:2200598T>A	ENST00000544865.1	-	4	2507	c.1997A>T	c.(1996-1998)aAg>aTg	p.K666M	SMG6_ENST00000263073.5_Missense_Mutation_p.K697M			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	697					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGTTTGAACTTGTAAGTAAC	0.358000													34	93					0	0	0.00209593	0	0
LSM2	57819	broad.mit.edu	37	6	31765655	31765655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:31765655G>A	ENST00000375661.5	-	5	393	c.167C>T	c.(166-168)tCa>tTa	p.S56L	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	56					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						GTTCTTCACTGATAACTAGAC	0.493000													47	154					0	0	0.000781405	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615543	140615543	+	RNA	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:140615543G>A	ENST00000526308.1	+	0	1606					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CATCGGCAGCGTCAGCGCTAC	0.642000													50	209					0	0	0.000781405	0	0
BCOR	54880	broad.mit.edu	37	X	39932420	39932420	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chrX:39932420G>T	ENST00000342274.4	-	4	2541	c.2179C>A	c.(2179-2181)Ccc>Acc	p.P727T	BCOR_ENST00000378455.4_Missense_Mutation_p.P727T|BCOR_ENST00000397354.3_Missense_Mutation_p.P727T|BCOR_ENST00000378444.4_Missense_Mutation_p.P727T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	727					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATCAACATGGGATGCACCATG	0.582000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						30	56					6.38683e-12	3.46572e-11	0.001512	1	0
FAM81A	145773	broad.mit.edu	37	15	59806519	59806519	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:59806519C>A	ENST00000288228.5	+	7	869	c.682C>A	c.(682-684)Cag>Aag	p.Q228K		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	228										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ACTCAGTAACCAGATATTATC	0.299000													16	28					0.000308642	0.00153227	0.000308642	1	0
BLZF1	8548	broad.mit.edu	37	1	169345895	169345895	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:169345895G>C	ENST00000367808.3	+	3	569	c.146G>C	c.(145-147)aGt>aCt	p.S49T	BLZF1_ENST00000329281.2_Missense_Mutation_p.S49T|BLZF1_ENST00000367807.3_Missense_Mutation_p.S49T			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	49					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGTCTTCAGAGTCCATGGAAG	0.438000													15	54					0	0	0.000422831	0	0
ITPA	3704	broad.mit.edu	37	20	3193868	3193868	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:3193868T>G	ENST00000380113.3	+	2	312	c.120T>G	c.(118-120)atT>atG	p.I40M	ITPA_ENST00000455664.1_Missense_Mutation_p.I23M|ITPA_ENST00000399838.3_Intron|ITPA_ENST00000483354.1_3'UTR	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	40					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CACAGAAAATTGACCGTATGT	0.403000													25	51					0	0	0.00047179	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													4	40					0	0	0.000602214	0	0
ING1	3621	broad.mit.edu	37	13	111368155	111368155	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr13:111368155T>G	ENST00000375774.3	+	1	827	c.365T>G	c.(364-366)gTg>gGg	p.V122G	ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	122					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCCTGGCGGGTGTCGCCCCTG	0.721000													4	5					0	0	0.000274275	0	0
APBA1	320	broad.mit.edu	37	9	72047505	72047505	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:72047505C>T	ENST00000265381.4	-	12	2611	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	797	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGGTGGCCACGACGCTCTGT	0.607000													20	38					0	0	0.000958276	0	0
ZNF783	100289678	broad.mit.edu	37	7	148979254	148979254	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:148979254C>G	ENST00000434415.1	+	6	1624	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	487					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACCAGCGCATCCACACCGGTG	0.716000													10	34					0	0	0.000978159	0	0
TSC22D1	8848	broad.mit.edu	37	13	45010654	45010654	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr13:45010654C>T	ENST00000261489.2	-	1	327	c.111G>A	c.(109-111)gtG>gtA	p.V37V	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000458659.2_Intron	NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	832					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TATCAAGTCTCACAGAAGCGT	0.383000													28	158					0	0	0.00106085	0	0
OR2C1	4993	broad.mit.edu	37	16	3406177	3406177	+	Silent	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:3406177C>G	ENST00000304936.2	+	1	289	c.237C>G	c.(235-237)ccC>ccG	p.P79P		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTTCAGTCCCCCAAATGCTGA	0.547000													56	44					0	0	0.000781405	0	0
PHF21A	51317	broad.mit.edu	37	11	45967551	45967551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:45967551C>T	ENST00000257821.4	-	14	1915	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	PHF21A_ENST00000418153.2_Missense_Mutation_p.R430H|PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	430					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TTTTGGAGGACGACCTATATA	0.488000													20	72					0	0	0.00278032	0	0
NCBP2	22916	broad.mit.edu	37	3	196664503	196664503	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:196664503C>G	ENST00000447325.1	-	3	416	c.67G>C	c.(67-69)Gat>Cat	p.D23H	NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.D75H|NCBP2_ENST00000427641.2_Splice_Site|NCBP2_ENST00000321256.5_Missense_Mutation_p.D93H|NCBP2_ENST00000422610.1_Missense_Mutation_p.D23H			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	93					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTTTCCGCATCTGCGCGTGAG	0.448000													21	77					0	0	0.00229938	0	0
ZNF596	169270	broad.mit.edu	37	8	196070	196070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:196070G>A	ENST00000398612.1	+	6	1606	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ZNF596_ENST00000308811.4_Missense_Mutation_p.R408Q|ZNF596_ENST00000320552.2_Missense_Mutation_p.R338Q	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R408Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GACCTCAGACGACATGAGAGA	0.438000													20	38					0	0	0.00121646	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183382	167183382	+	Silent	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:167183382T>C	ENST00000476257.1	-	5	856	c.558A>G	c.(556-558)aaA>aaG	p.K186K	SERPINI2_ENST00000471111.1_Silent_p.K186K|SERPINI2_ENST00000461846.1_Silent_p.K186K|SERPINI2_ENST00000264677.4_Silent_p.K186K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	186					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCAATCTCCTTTGAAATAAA	0.393000													16	34					0	0	0.000308642	0	0
TP53	7157	broad.mit.edu	37	17	7579575	7579575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:7579575G>A	ENST00000420246.2	-	4	244	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	38	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCATTGCTTGGGACGGCAAG	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			51	180					0	0	0.000781405	0	0
HP	3240	broad.mit.edu	37	16	72094489	72094489	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:72094489C>T	ENST00000355906.5	+	7	979	c.921C>T	c.(919-921)gaC>gaT	p.D307D	HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Silent_p.D248D|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.D248D|HP_ENST00000565574.1_Silent_p.D248D	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	307	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTGACCAAGACCAATGCATAA	0.493000													15	42					0	0	0.00244969	0	0
BAZ1B	9031	broad.mit.edu	37	7	72884760	72884760	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:72884760C>A	ENST00000339594.4	-	8	2985	c.2647G>T	c.(2647-2649)Gct>Tct	p.A883S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A883S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	883					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTTTCTCAGCAGCTGCTTTG	0.428000													34	55					3.11337e-16	1.77184e-15	0.00283554	1	0
MAP2	4133	broad.mit.edu	37	2	210518097	210518097	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:210518097C>G	ENST00000360351.4	+	4	709	c.203C>G	c.(202-204)tCa>tGa	p.S68*	MAP2_ENST00000361559.4_Nonsense_Mutation_p.S68*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.S68*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.S68*|MAP2_ENST00000392194.1_Nonsense_Mutation_p.S68*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	68					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCACCTATTCAAATACCAAA	0.532000													23	52					0	0	0.00188189	0	0
TADA2A	6871	broad.mit.edu	37	17	35800747	35800747	+	Silent	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:35800747A>G	ENST00000394395.2	+	6	599	c.426A>G	c.(424-426)acA>acG	p.T142T	TADA2A_ENST00000417170.1_Silent_p.T142T|TADA2A_ENST00000586023.1_Silent_p.T142T|TADA2A_ENST00000225396.6_Silent_p.T142T|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	142					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CTGCTGACACAGCCATTCCAT	0.423000													5	37					0	0	0.000602214	0	0
OR1N2	138882	broad.mit.edu	37	9	125316206	125316206	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:125316206A>C	ENST00000373688.2	+	1	816	c.758A>C	c.(757-759)aAg>aCg	p.K253T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGAGATGGAAGGCCTTCTCT	0.498000													54	125					0	0	0.000781405	0	0
ZNF451	26036	broad.mit.edu	37	6	56993596	56993596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:56993596G>A	ENST00000370706.4	+	5	626	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E128K|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000370711.5_3'UTR|ZNF451_ENST00000357489.3_Missense_Mutation_p.E128K	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTGATACAGAAGCAGCAAG	0.373000													24	48					0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9048464	9048464	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:9048464C>A	ENST00000397910.4	-	5	33370	c.33167G>T	c.(33166-33168)aGt>aTt	p.S11056I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11058	Thr-rich.				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						AGTTGGAATACTTGTACTGTT	0.498000													30	118					7.26314e-15	4.03508e-14	0.00127121	1	0
WSCD2	9671	broad.mit.edu	37	12	108618515	108618515	+	Splice_Site	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:108618515G>T	ENST00000332082.4	+	6	1500		c.e6-1		WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000261400.3_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2							integral to membrane		p.?(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGCTCTTCAGATGGAAGTGC	0.517000													22	86					9.95505e-16	5.57483e-15	0.00229938	1	0
TNNT3	7140	broad.mit.edu	37	11	1956071	1956071	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:1956071G>A	ENST00000381558.1	+	13	858	c.579G>A	c.(577-579)aaG>aaA	p.K193K	TNNT3_ENST00000381549.3_Silent_p.K193K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000446240.1_Silent_p.K182K|TNNT3_ENST00000381561.4_Silent_p.K204K|TNNT3_ENST00000381579.3_Silent_p.K193K|TNNT3_ENST00000397304.2_Silent_p.K182K|TNNT3_ENST00000360603.3_Silent_p.K195K|TNNT3_ENST00000381589.3_Silent_p.K199K|TNNT3_ENST00000278317.6_Silent_p.K201K|TNNT3_ENST00000397301.1_Silent_p.K212K|TNNT3_ENST00000381548.3_Silent_p.K203K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	212					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACAAGGCCAAGGAGCTCTGGG	0.612000													46	149					0	0	0.000781405	0	0
ANKHD1	54882	broad.mit.edu	37	5	139781714	139781714	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:139781714G>A	ENST00000297183.6	+	1	286	c.162G>A	c.(160-162)tcG>tcA	p.S54S	ANKHD1_ENST00000394722.3_Silent_p.S54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S54S|ANKHD1_ENST00000394723.3_Silent_p.S54S|ANKHD1_ENST00000360839.2_Silent_p.S54S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGCGTCGGGAGTcggca	0.766000													16	9					0	0	0.000566183	0	0
FAM101A	144347	broad.mit.edu	37	12	124798965	124798965	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:124798965C>A	ENST00000389727.3	+	3	545	c.545C>A	c.(544-546)aCc>aAc	p.T182N	FAM101A_ENST00000324038.3_Missense_Mutation_p.T101N|FAM101A_ENST00000546355.1_Missense_Mutation_p.T101N|FAM101A_ENST00000338359.4_Missense_Mutation_p.T101N			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	182										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		TTCCGGACCACCCTGCACTGC	0.706000													26	59					7.33532e-06	3.74797e-05	0.000586117	1	0
RBP3	5949	broad.mit.edu	37	10	48388506	48388506	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:48388506G>A	ENST00000224600.4	-	1	2485	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	791	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.T791M(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGGATGGCCGTGGAGTAGCT	0.622000													8	17					0	0	0.000274275	0	0
AK5	26289	broad.mit.edu	37	1	77984359	77984359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:77984359G>T	ENST00000344720.5	+	11	2206	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	AK5_ENST00000354567.2_Nonsense_Mutation_p.E420*	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	420					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						ATCAGAATCTGAAAGAAGCAA	0.488000													19	49					1.56452e-12	8.55599e-12	0.000958276	1	0
SDCBP	6386	broad.mit.edu	37	8	59494271	59494271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:59494271T>C	ENST00000523483.1	+	10	2443	c.929T>C	c.(928-930)cTa>cCa	p.L310P	SDCBP_ENST00000447267.2_Missense_Mutation_p.L236P|SDCBP_ENST00000413219.2_Missense_Mutation_p.L290P|SDCBP_ENST00000424270.2_Missense_Mutation_p.L284P|SDCBP_ENST00000520168.1_Missense_Mutation_p.L231P|SDCBP_ENST00000447182.2_Missense_Mutation_p.L289P|SDCBP_ENST00000260130.4_Missense_Mutation_p.L290P|SDCBP_ENST00000422546.2_Missense_Mutation_p.L289P			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	290					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGAAAAGCCTAATGGACCAC	0.388000													3	129					0	0	0.000602214	0	0
PARD3B	117583	broad.mit.edu	37	2	206265816	206265816	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:206265816G>C	ENST00000406610.2	+	19	2917	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	PARD3B_ENST00000358768.2_Missense_Mutation_p.E842Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E835Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E904Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	904					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGAGAAGAAGAGCTGGAGAA	0.428000													3	13					0	0	0.00024832	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075958	144075958	+	Splice_Site	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:144075958C>A	ENST00000056217.5	+	14	4809	c.4636_splice	c.e14+1	p.D1545_splice	ARHGEF5_ENST00000471847.2_Splice_Site_p.D467_splice	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1545	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGAGCAGTGACGGTAAGCGGG	0.592000													35	96					6.84511e-11	3.65769e-10	0.00058488	1	0
HKDC1	80201	broad.mit.edu	37	10	70992576	70992576	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:70992576G>T	ENST00000354624.5	+	3	416	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L	HKDC1_ENST00000395086.2_Missense_Mutation_p.V95L	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	95					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTGCTGAAGGTGCAAGTCGC	0.502000													37	100					1.42033e-22	8.28527e-22	0.000814825	1	0
TNKS2	80351	broad.mit.edu	37	10	93619309	93619309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:93619309C>T	ENST00000371627.4	+	25	3564	c.3185C>T	c.(3184-3186)gCt>gTt	p.A1062V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1062	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATTTATTTTGCTGAAAACTCT	0.403000													25	62					0	0	0.00278032	0	0
ZNF790	388536	broad.mit.edu	37	19	37309438	37309438	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:37309438T>A	ENST00000356725.4	-	5	1928	c.1808A>T	c.(1807-1809)aAc>aTc	p.N603I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGAGCAAAGTTTGACTCATG	0.323000													34	94					0	0	0.00283554	0	0
CHRD	8646	broad.mit.edu	37	3	184104380	184104380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:184104380C>T	ENST00000204604.1	+	16	2279	c.2033C>T	c.(2032-2034)gCg>gTg	p.A678V	CHRD_ENST00000348986.3_Missense_Mutation_p.A638V|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A678V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	678					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTCTGCTGCGCCGCCTGTG	0.711000													5	17					0	0	0.000602214	0	0
CORIN	10699	broad.mit.edu	37	4	47605597	47605597	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:47605597T>C	ENST00000273857.4	-	20	2628	c.2629A>G	c.(2629-2631)Acc>Gcc	p.T877A	CORIN_ENST00000502252.1_Missense_Mutation_p.T810A|CORIN_ENST00000505909.1_Missense_Mutation_p.T840A|CORIN_ENST00000508498.1_Missense_Mutation_p.T738A	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	877	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGATGATGGTCTTCACAAAG	0.488000													3	50					0	0	6.4e-05	0	0
GFM1	85476	broad.mit.edu	37	3	158363475	158363475	+	Nonsense_Mutation	SNP	C	C	T	rs119470019		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:158363475C>T	ENST00000486715.1	+	2	496	c.139C>T	c.(139-141)Cga>Tga	p.R47*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.R47*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.R47*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	47					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGAAAAAATACGAAATATTGG	0.383000													27	53					0	0	0.000878237	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47338951	47338951	+	RNA	SNP	G	G	A	rs17102753	by1000genomes	TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:47338951G>A	ENST00000505841.1	-	0	843					NR_002788.2																						AAATCCTGGCGTCTTTTCTGA	0.353000													11	36					0	0	0.000978159	0	0
SETD6	79918	broad.mit.edu	37	16	58552079	58552079	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:58552079A>G	ENST00000394266.4	+	7	766	c.710A>G	c.(709-711)aAc>aGc	p.N237S	SETD6_ENST00000219315.4_Missense_Mutation_p.N306S|SETD6_ENST00000310682.2_Missense_Mutation_p.N282S|SETD6_ENST00000418480.1_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	306	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TATCCTGACAACACAGATGAC	0.428000													17	49					0	0	0.000422831	0	0
ARMC1	55156	broad.mit.edu	37	8	66539564	66539564	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:66539564G>C	ENST00000458464.2	-	0	278				ARMC1_ENST00000276569.3_Missense_Mutation_p.L24V|ARMC1_ENST00000523384.1_5'UTR			Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1						metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TCTGCTGCTAGATCCCGTAAC	0.463000													32	168					0	0	0.0024448	0	0
ALG2	85365	broad.mit.edu	37	9	101980890	101980890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:101980890G>C	ENST00000476832.1	-	2	638	c.577C>G	c.(577-579)Cac>Gac	p.H193D	ALG2_ENST00000319033.6_Missense_Mutation_p.H100D	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	193					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.H193D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCTATGTGAGACAGGGAC	0.453000													13	97					0	0	0.00244969	0	0
JMJD1C	221037	broad.mit.edu	37	10	64966567	64966567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:64966567G>A	ENST00000399262.2	-	10	5080	c.4862C>T	c.(4861-4863)aCt>aTt	p.T1621I	JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1439I|JMJD1C_ENST00000399251.1_Missense_Mutation_p.T1402I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1402I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1621					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGATTCATAAGTTCTTTTGGC	0.348000													24	71					0	0	0.00278032	0	0
NOS3	4846	broad.mit.edu	37	7	150693876	150693876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:150693876C>T	ENST00000297494.3	+	5	802	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NOS3_ENST00000467517.1_Missense_Mutation_p.R149W|NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000461406.1_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	149	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R149R(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCACGAACAGCGGCTTCAAGA	0.657000													5	21					0	0	0.000602214	0	0
INPP5J	27124	broad.mit.edu	37	22	31520883	31520883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr22:31520883C>T	ENST00000331075.5	+	2	207	c.158C>T	c.(157-159)tCg>tTg	p.S53L	INPP5J_ENST00000412277.2_5'UTR|INPP5J_ENST00000400294.2_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.S53L|INPP5J_ENST00000405300.1_5'UTR			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	53						cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTAGGACCCTCGGAACCAAGG	0.572000													11	34					0	0	0.000978159	0	0
FAT2	2196	broad.mit.edu	37	5	150929062	150929062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:150929062C>T	ENST00000261800.5	-	8	4595	c.4583G>A	c.(4582-4584)cGa>cAa	p.R1528Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1528	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTGGTCTCGGACCTATGG	0.483000													26	12					0	0	0.000586117	0	0
OR5D13	390142	broad.mit.edu	37	11	55540981	55540981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:55540981C>T	ENST00000361760.1	+	1	68	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCAGAATACCCAGAAATCCAG	0.373000													9	120					0	0	0.000442599	0	0
ADCY2	108	broad.mit.edu	37	5	7396480	7396480	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:7396480A>T	ENST00000338316.4	+	1	160	c.71A>T	c.(70-72)gAc>gTc	p.D24V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	24					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCGGCGGAGACGGGCTGCCG	0.726000													16	22					0	0	0.000566183	0	0
FAM129B	64855	broad.mit.edu	37	9	130269539	130269539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:130269539G>A	ENST00000373312.3	-	14	2039	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	FAM129B_ENST00000373314.3_Missense_Mutation_p.S596L|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	609							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGGGTGGCTGACTCCGGGGT	0.697000													5	52					0	0	0.00116845	0	0
USH2A	7399	broad.mit.edu	37	1	216462695	216462695	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:216462695G>C	ENST00000366943.2	-	11	2284	c.1898C>G	c.(1897-1899)tCg>tGg	p.S633W	USH2A_ENST00000307340.3_Missense_Mutation_p.S633W|USH2A_ENST00000366942.3_Missense_Mutation_p.S633W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	633	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTATGGCCGAAGGATCTGC	0.408000										HNSCC(13;0.011)			17	54					0	0	0.000422831	0	0
TRIM69	140691	broad.mit.edu	37	15	45047401	45047401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:45047401A>T	ENST00000559390.1	+	3	1238	c.310A>T	c.(310-312)Aag>Tag	p.K104*	TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.K104*|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558173.1_De_novo_Start_InFrame			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	104	Necessary for nuclear localization (By similarity).		K -> R (in dbSNP:rs17588988).		apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGAGAAGATTAAGAAGTTACC	0.438000													23	33					0	0	0.00229938	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197549	39197549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:39197549G>C	ENST00000306271.4	-	1	164	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	34			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament		p.S34C(6)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGGAGCTGGTCTC	0.612000													4	83					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179616392	179616392	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:179616392T>C	ENST00000360870.5	-	46	10957	c.10735A>G	c.(10735-10737)Agg>Ggg	p.R3579G	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3574	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGTAACCTATAACTTCCA	0.373000													3	129					0	0	6.4e-05	0	0
TAF1L	138474	broad.mit.edu	37	9	32633291	32633291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:32633291C>T	ENST00000242310.4	-	1	2376	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	763					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGTTGTTCTCAAGTGCCTGC	0.433000													8	99					0	0	0.000274275	0	0
UGT3A2	167127	broad.mit.edu	37	5	36066838	36066838	+	Silent	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:36066838C>A	ENST00000282507.3	-	1	155	c.54G>T	c.(52-54)ctG>ctT	p.L18L	UGT3A2_ENST00000513300.1_Silent_p.L18L|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	18						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTCTGAGAGCAGGACCCCAG	0.607000													97	131					3.57987e-33	2.1418e-32	0.000781405	1	0
POLG	5428	broad.mit.edu	37	15	89864134	89864134	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:89864134G>A	ENST00000268124.5	-	18	3177	c.2844C>T	c.(2842-2844)atC>atT	p.I948I	POLG_ENST00000442287.2_Silent_p.I948I	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	948					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CGTAGTTGAAGATTTTGGCAT	0.557000								DNA polymerases (catalytic subunits)					14	32					0	0	0.000308642	0	0
AMBP	259	broad.mit.edu	37	9	116840403	116840403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:116840403G>C	ENST00000265132.3	-	1	349	c.87C>G	c.(85-87)atC>atG	p.I29M		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	29					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTGCACTTGGATGTTGTCGG	0.637000													14	105					0	0	0.00185496	0	0
POTEG	404785	broad.mit.edu	37	14	19553628	19553628	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:19553628G>T	ENST00000409832.3	+	1	264	c.212G>T	c.(211-213)tGg>tTg	p.W71L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	71										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTTCCCCTGGTGCAGGGGG	0.587000													94	950					1.79293e-35	1.09135e-34	0.000781405	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	57					0	0	0.00024832	0	0
CSDE1	7812	broad.mit.edu	37	1	115267850	115267850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:115267850G>A	ENST00000438362.2	-	15	2261	c.1883C>T	c.(1882-1884)aCa>aTa	p.T628I	CSDE1_ENST00000369530.1_Missense_Mutation_p.T597I|CSDE1_ENST00000358528.4_Missense_Mutation_p.T582I|CSDE1_ENST00000339438.6_Missense_Mutation_p.T551I|CSDE1_ENST00000261443.5_Missense_Mutation_p.T551I|CSDE1_ENST00000534699.1_Missense_Mutation_p.T582I|CSDE1_ENST00000530886.1_Missense_Mutation_p.T452I	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	582	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTGAGTGTGTTTTGTTCAC	0.423000													44	121					0	0	0.00195071	0	0
WNK1	65125	broad.mit.edu	37	12	993920	993920	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:993920A>G	ENST00000537687.1	+	19	5373	c.4730A>G	c.(4729-4731)gAa>gGa	p.E1577G	WNK1_ENST00000340908.4_Missense_Mutation_p.E910G|WNK1_ENST00000535572.1_Missense_Mutation_p.E1070G|WNK1_ENST00000530271.2_Missense_Mutation_p.E1815G|WNK1_ENST00000315939.6_Missense_Mutation_p.E1317G	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1317					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAATGACAGAAGGACCCAAC	0.478000													37	71					0	0	0.00128727	0	0
CDH12	1010	broad.mit.edu	37	5	21752115	21752115	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:21752115G>T	ENST00000382254.1	-	15	3202	c.2116C>A	c.(2116-2118)Ccc>Acc	p.P706T	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000504376.2_Missense_Mutation_p.P706T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCATGGGTGGTCTCTGA	0.448000										HNSCC(59;0.17)			23	92					1.64293e-13	9.05554e-13	0.00047179	1	0
MYH4	4622	broad.mit.edu	37	17	10362627	10362627	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:10362627C>T	ENST00000255381.2	-	15	1638	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	510	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACTCCCACTCGATGCCTTCC	0.473000													26	103					0	0	0.000586117	0	0
OR4N4	283694	broad.mit.edu	37	15	22382574	22382574	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:22382574C>A	ENST00000328795.4	+	1	193	c.102C>A	c.(100-102)ttC>ttA	p.F34L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTAATTTTCTACCTTATCA	0.423000													67	98					2.36135e-34	1.42495e-33	0.000781405	1	0
EPHA2	1969	broad.mit.edu	37	1	16475417	16475418	+	Frame_Shift_Ins	INS	-	-	CGCT			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:16475417_16475418insCGCT	ENST00000358432.5	-	3	432_433	c.278_279insAGCG	c.(277-279)catfs	p.H93fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	93					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAATGAAGATACGCTCAGCCTC	0.545													37	54	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33237578	33237578	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:33237578delC	ENST00000401073.2	+	6	2868	c.2798delC	c.(2797-2799)ggfs	p.A933fs	KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.A874fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.A885fs|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									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)				CTCCATGCTGCGGTCCGACTC	0.706													8	21	---	---	---	---					
ZMYM1	79830	broad.mit.edu	37	1	35578796	35578798	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:35578796_35578798delTAT	ENST00000373330.1	+	11	1539_1541	c.1365_1367delTAT	c.(1363-1368)agt>ag	p.SI455del	ZMYM1_ENST00000359858.4_In_Frame_Del_p.SI455del|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	455						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATCACGAAGTATTAAAAAATCT	0.300													19	31	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	50	---	---	---	---					
FOSL2	2355	broad.mit.edu	37	2	28634924	28634925	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:28634924_28634925insGC	ENST00000264716.4	+	4	1453_1454	c.590_591insGC	c.(589-591)gcgfs	p.A197fs	FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.A189fs|FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.A158fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	197					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGCCCCGAGGAGCGCCGATCGC	0.639													29	70	---	---	---	---					
IGKV1-8	28942	broad.mit.edu	37	2	89292328	89292328	+	RNA	DEL	C	C	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:89292328delC	ENST00000495489.1	-	0	102																											TGAGTAAATTCCTAGTGTTCT	0.502													45	181	---	---	---	---					
IGKV1D-8	28904	broad.mit.edu	37	2	90259849	90259849	+	RNA	DEL	G	G	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:90259849delG	ENST00000471857.1	+	0	236																											AGAACACTATGAATTTACTCA	0.483													11	208	---	---	---	---					
KCNJ3	3760	broad.mit.edu	37	2	155711297	155711297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:155711297delT	ENST00000295101.2	+	3	1455	c.978delT	c.(976-978)cgfs	p.R326fs	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	326					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGGGTCATCGTTTTTTTCCTG	0.383													20	57	---	---	---	---					
HYAL2	8692	broad.mit.edu	37	3	50356381	50356389	+	Splice_Site	DEL	GCTTACCGT	GCTTACCGT	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:50356381_50356389delGCTTACCGT	ENST00000447092.1	-	2	3301_3304	c.1011_splice	c.e2+1	p.337_splice	HYAL2_ENST00000395139.3_Splice_Site_p.337_splice|HYAL2_ENST00000442581.1_Splice_Site_p.337_splice|HYAL2_ENST00000357750.4_Splice_Site_p.337_splice			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	337						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GCTGGGTCTCGCTTACCGTGCTTGTGGTG	0.584													9	43	---	---	---	---					
CDH9	1007	broad.mit.edu	37	5	26881690	26881690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:26881690delT	ENST00000231021.4	-	12	2097	c.1925delA	c.(1924-1926)agfs	p.K642fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	642					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGAGGTTCCTTTTTTCTTTG	0.398													8	156	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													4	6	---	---	---	---					
TAS2R7	50837	broad.mit.edu	37	12	10954441	10954443	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:10954441_10954443delGAG	ENST00000240687.2	-	1	783_785	c.727_729delCTC	c.(727-729)del	p.L243del		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	243					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AGGCAATAAAGAGGAGAAGGAAG	0.483													10	61	---	---	---	---					
PAPD5	64282	broad.mit.edu	37	16	50259097	50259097	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:50259097delT	ENST00000357464.3	+	11	1419	c.1419delT	c.(1417-1419)tgfs	p.C473fs	PAPD5_ENST00000561678.1_Frame_Shift_Del_p.C442fs|PAPD5_ENST00000436909.3_Frame_Shift_Del_p.C552fs|PAPD5_ENST00000573002.1_Intron			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	443	Ser-rich.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTGGAAAATGTAGAAGTAAAA	0.393													11	26	---	---	---	---					
CTC-490G23.2	0	broad.mit.edu	37	19	43835543	43835544	+	RNA	INS	-	-	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:43835543_43835544insT	ENST00000595748.1	-	0	38_39																											GCGGGGAGGGGCTGAGGGGGGC	0.619													8	32	---	---	---	---					
