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
REXO1L1	254958	broad.mit.edu	37	8	86567354	86567354	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr8:86567354C>T	uc003ydl.1	-	0	552	c.465G>A	c.(463-465)acG>acA	p.T155T		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	512						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CCAGGCCATGCGTGGTGTAGC	0.567000													29	309					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700638	6700638	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:6700638A>G	uc001qpo.3	-	21	3498	c.3334T>C	c.(3334-3336)Ttc>Ctc	p.F1112L	CHD4_uc001qpn.3_Missense_Mutation_p.F1105L|CHD4_uc001qpp.3_Missense_Mutation_p.F1109L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1112	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCACCATTGAAGCGGTCAATG	0.433000													32	33					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31237836	31237836	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr6:31237836T>C	uc003nsy.3	-	4	987	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HLA-C_uc021yuk.1_Missense_Mutation_p.I187V|HLA-C_uc011dnj.2_Missense_Mutation_p.I280V|HLA-C_uc011dnl.2_Missense_Mutation_p.I187V	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 1, mRNA.	308	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCCCATGATGGGGATGGTG	0.612000													14	48					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9281098	9281098	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:9281098G>T	uc002knv.3	+	12	6427	c.6163G>T	c.(6163-6165)Gac>Tac	p.D2055Y	ANKRD12_uc002knw.3_Missense_Mutation_p.D2032Y|ANKRD12_uc002knx.3_Missense_Mutation_p.D2032Y	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	2055						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGATGTTAACGACGACTTTGA	0.408000													44	64					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639792	97639792	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:97639792G>A	uc001vmx.1	-	3	466	c.222C>T	c.(220-222)aaC>aaT	p.N74N	OXGR1_uc010afr.1_Silent_p.N74N|OXGR1_uc021rlr.1_Silent_p.N74N	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	74						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGCAGGCCAGGTTCAGCATAA	0.458000													34	40					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293943	62293943	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:62293943G>T	uc001ntl.3	-	4	8246	c.7946C>A	c.(7945-7947)cCt>cAt	p.P2649H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2649					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGAAGCCAGGCATGCTGAA	0.527000													49	240					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101315367	101315367	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:101315367T>C	uc001vot.3	-	4	716	c.403A>G	c.(403-405)Agt>Ggt	p.S135G	TMTC4_uc001vou.3_Missense_Mutation_p.S116G|TMTC4_uc010tja.2_Intron	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	116						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGATGCCACTGTGCAGGAGG	0.597000													49	138					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904139	21904139	+	RNA	SNP	T	T	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:21904139T>G	uc002gza.2	+	0		c.78T>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ccgagcaggatgaggaaacca	0.692000													4	110					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36686233	36686233	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:36686233G>A	uc001uvf.3	-	2	779	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	166					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCAGTGGCCAGTGAAGACACT	0.537000													58	58					0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41848131	41848131	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:41848131A>C	uc002oqh.2	-	3	1538	c.656T>G	c.(655-657)cTt>cGt	p.L219R		NM_000660	NP_000651	P01137	TGFB1_HUMAN	Homo sapiens transforming growth factor, beta 1 (TGFB1), mRNA.	219					ATP biosynthetic process|SMAD protein complex assembly|SMAD protein import into nucleus|active induction of host immune response by virus|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of DNA replication|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of SMAD protein import into nucleus|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway|viral infectious cycle	Golgi lumen|extracellular space|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GTGGGCGCTAAGGCGAAAGCC	0.592000													20	14					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805588	102805588	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:102805588T>C	uc002tbs.3	+	2	237	c.111T>C	c.(109-111)ccT>ccC	p.P37P	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	37	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCAGCCTTTTGCTTTTA	0.343000													18	24					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113777240	113777240	+	Splice_Site	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:113777240G>A	uc001vsx.3	+	1	127	c.70_splice	c.e1+1	p.L24_splice	F10_uc010agq.1_Splice_Site|F10_uc001vsy.3_Splice_Site_p.L24_splice	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	24					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGAAAGTCGTAAGTGCCCC	0.662000													35	19					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844141	123844141	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:123844141G>T	uc001lfv.3	+	3	2486	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.R709I|TACC2_uc010qtv.2_Missense_Mutation_p.R709I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	709						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGATTGGGAAGAATGGAGTCT	0.527000													31	20					0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183780	13183780	+	Silent	SNP	A	A	C	rs116484938	by1000genomes	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:13183780A>C	uc010obg.2	-	1	336	c.93T>G	c.(91-93)tcT>tcG	p.S31S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	31						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CCTCCACATCAGATTTCTTGA	0.468000													4	80					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91142978	91142978	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:91142978C>A	uc001xyp.3	-	8	1163	c.1041G>T	c.(1039-1041)agG>agT	p.R347S	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	347							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GTTCAGGTATCCTGCTCAGCA	0.527000													58	70					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196094903	196094903	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:196094903C>T	uc003fwm.4	-	7	905	c.830G>A	c.(829-831)cGt>cAt	p.R277H	UBXN7_uc003fwn.4_Missense_Mutation_p.R129H|UBXN7_uc010iae.3_Missense_Mutation_p.R115H	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	277							protein binding	p.A276V(2)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACTTACTGAACGGGCACATTT	0.383000													34	31					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215891	140215891	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140215891C>T	uc003lhq.2	+	0	1923	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.D641D	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	652	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGACGGACGCACCGCGCC	0.662000													30	117					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702420	179702420	+	Nonsense_Mutation	SNP	G	G	A	rs143765782	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:179702420G>A	uc002une.2	-	22	3644	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	CCDC141_uc002unf.1_Nonsense_Mutation_p.R655*	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	601							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTGGTAGTCGCTCTTCCCCT	0.483000													36	54					0	0	1	0	0
CCDC107	203260	broad.mit.edu	37	9	35660818	35660818	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:35660818T>C	uc011lox.2	+	4	576	c.486T>C	c.(484-486)gaT>gaC	p.D162D	RMRP_uc003zxh.2_5'Flank|CCDC107_uc022bgm.1_3'UTR|CCDC107_uc011loy.2_Silent_p.D162D|CCDC107_uc003zxj.3_Nonstop_Mutation_p.*156Q|C9orf100_uc003zxl.3_Non-coding_Transcript|C9orf100_uc003zxm.1_3'UTR	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	Homo sapiens coiled-coil domain containing 107 (CCDC107), transcript variant A, mRNA.	162						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCAAGATAGCAAGCCGG	0.537000													107	149					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589625	11589625	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11589625C>T	uc001ash.4	+	13	2949	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	937					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCTGTACTTCGCCCAGTCCC	0.652000													39	106					0	0	1	0	0
NIPA2	81614	broad.mit.edu	37	15	23006811	23006811	+	Silent	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23006811A>G	uc001yvb.3	-	9	1350	c.493T>C	c.(493-495)Tta>Cta	p.L165L	NIPA2_uc001yux.3_Silent_p.L165L|NIPA2_uc001yuy.3_Silent_p.L165L|NIPA2_uc001yuz.3_Silent_p.L165L|NIPA2_uc010ayb.3_Silent_p.L146L|NIPA2_uc001yva.3_Silent_p.L146L	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	165						early endosome|integral to membrane|plasma membrane		p.I165V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		ACGAAGATTAATATCAAGGCC	0.448000													13	43					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:33658404C>T	uc003jia.1	-	6	1238	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E359K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	359	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						CCCAGGGTCTCGCAGGGGCGA	0.498000										HNSCC(64;0.19)			6	109					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432185	3432185	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:3432185G>A	uc003ggw.3	+	16	4521	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	RGS12_uc003ggv.3_Missense_Mutation_p.R1206H|RGS12_uc003ggy.1_Missense_Mutation_p.V553M|RGS12_uc003ggz.3_Missense_Mutation_p.R558H|RGS12_uc011bvs.2_Missense_Mutation_p.V497M|RGS12_uc003gha.3_Missense_Mutation_p.R548H|RGS12_uc010icv.3_Missense_Mutation_p.R405H	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1206	GoLoco.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATGACCAACGTGGGCTGCTA	0.493000													33	84					0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027241	88027241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:88027241C>T	uc001pck.4	-	6	1426	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CTSC_uc001pcl.4_Missense_Mutation_p.R294H	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	442					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTTCCTCTGCGGATCCGGAA	0.498000													36	46					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	915093	915093	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:915093G>T	uc002fsd.3	-	18	2204	c.2094C>A	c.(2092-2094)ttC>ttA	p.F698L	ABR_uc002fse.3_Missense_Mutation_p.F652L|ABR_uc010vqf.2_Missense_Mutation_p.F149L|ABR_uc010vqg.2_Missense_Mutation_p.F480L|ABR_uc002fsg.3_Missense_Mutation_p.F661L|ABR_uc002fsh.1_Missense_Mutation_p.F306L|ABR_uc002fsf.3_Missense_Mutation_p.F235L	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	698	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CACTGGCATCGAAGACGGCCT	0.647000													15	22					0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128806668	128806668	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:128806668A>T	uc003vop.2	+	5	618	c.509A>T	c.(508-510)tAt>tTt	p.Y170F	TSPAN33_uc003voq.2_Missense_Mutation_p.Y2F	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	170						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGAACATGTATTTCAACTGC	0.527000													103	73					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059182	79059182	+	Missense_Mutation	SNP	T	T	C	rs143974743		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:79059182T>C	uc002bej.4	-	18	3282	c.3071A>G	c.(3070-3072)cAc>cGc	p.H1024R	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1024					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H1024R(3)		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						GGCCAGGTGGTGCGGGATGAA	0.682000													6	30					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11985518	11985518	+	Silent	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11985518C>A	uc001atl.2	-	0	968	c.777G>T	c.(775-777)gtG>gtT	p.V259V	KIAA2013_uc001atk.3_Silent_p.V259V	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	259						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCAGGTGCACCAACCCAG	0.647000													20	16					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76234280	76234280	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:76234280C>T	uc001oxl.3	+	11	1909	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M	C11orf30_uc001oxm.3_Missense_Mutation_p.T505M|C11orf30_uc010rsb.2_Missense_Mutation_p.T604M|C11orf30_uc010rsc.2_Missense_Mutation_p.T604M|C11orf30_uc001oxn.3_Missense_Mutation_p.T590M|C11orf30_uc010rsd.2_Missense_Mutation_p.T603M	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	589	Thr-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAAAAGGAACGACCATTCAA	0.438000													35	40					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82187209	82187209	+	Missense_Mutation	SNP	G	G	T	rs142605674		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:82187209G>T	uc021pux.1	+	4	663	c.533G>T	c.(532-534)gGc>gTc	p.G178V	FAM213A_uc001kcc.4_Missense_Mutation_p.G178V|FAM213A_uc001kcd.4_Missense_Mutation_p.G167V|FAM213A_uc001kcf.4_Missense_Mutation_p.G178V|FAM213A_uc001kce.4_Missense_Mutation_p.G178V|FAM213A_uc021puy.1_Missense_Mutation_p.G174V	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	178						extracellular region											GAAGGAGAAGGCTTCATCCTT	0.507000													13	31					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111779	64111779	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:64111779C>A	uc001nzy.3	+	13	1815	c.1766C>A	c.(1765-1767)cCg>cAg	p.P589Q	CCDC88B_uc009ypo.2_Missense_Mutation_p.P586Q|CCDC88B_uc001nzz.1_Missense_Mutation_p.P238Q	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	589					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGAGTCCCCGGAGAAGGCT	0.647000													47	51					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531160	92531160	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:92531160G>A	uc001pdj.4	+	8	4998	c.4981G>A	c.(4981-4983)Gtc>Atc	p.V1661I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1661	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCGCATTTCCGTCACCATGTC	0.443000										TCGA Ovarian(4;0.039)			22	66					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62586895	62586895	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:62586895G>A	uc001dab.3	+	37	5047	c.4933G>A	c.(4933-4935)Gct>Act	p.A1645T	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Missense_Mutation_p.A429T	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1645					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCCCTCCTTCGCTCCTGTCAT	0.507000													49	53					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110833	55110833	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:55110833T>C	uc010rie.2	+	0	157	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L53V(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CAGCCCCTCCTTGGGCTCCCT	0.408000													29	103					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65370850	65370850	+	Splice_Site	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:65370850A>G	uc003juk.2	+	23	4067	c.3757_splice	c.e23-2	p.M1253_splice	ERBB2IP_uc011cqx.2_Splice_Site_p.M1260_splice|ERBB2IP_uc003jui.2_Splice_Site_p.M1212_splice|ERBB2IP_uc003jul.2_Splice_Site_p.M1208_splice|ERBB2IP_uc011cqy.2_Splice_Site_p.M1212_splice|ERBB2IP_uc003juj.2_Intron|ERBB2IP_uc011cqz.2_Splice_Site_p.M451_splice|ERBB2IP_uc010iwx.2_Splice_Site_p.M1256_splice	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1253					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGTTTTTCTTAGATGCCTTTG	0.398000													30	18					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346210	135346210	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:135346210T>C	uc001lnj.1	+	4	696	c.663T>C	c.(661-663)ttT>ttC	p.F221F	CYP2E1_uc001lnk.1_Silent_p.F84F|CYP2E1_uc009ybl.1_Silent_p.F22F|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Silent_p.F22F	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	221					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	ACAATAATTTTCCCAGCTTTC	0.378000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				5	154					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30354424	30354424	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr20:30354424G>T	uc002wwp.1	+	4	993	c.295G>T	c.(295-297)Gct>Tct	p.A99S	TPX2_uc010gdv.1_Missense_Mutation_p.A99S	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	99					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCCGTCAAATGCTTGTTCTTC	0.428000													41	112					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105260603	105260603	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:105260603G>T	uc003dvx.3	+	7	1681	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	ALCAM_uc003dvw.2_Missense_Mutation_p.V329F|ALCAM_uc003dvy.3_Missense_Mutation_p.V329F|ALCAM_uc011bhh.1_Missense_Mutation_p.V278F|ALCAM_uc010hpp.3_Intron|ALCAM_uc003dvz.3_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	329					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTATCACAGTTCACTGTAA	0.393000													31	17					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67680200	67680200	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr16:67680200C>T	uc002etn.3	+	4	481	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	RLTPR_uc010cel.1_Missense_Mutation_p.R121C|RLTPR_uc010vjr.2_Missense_Mutation_p.R121C	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	121										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGTCTTCCCTCGCTCGACCCT	0.637000													14	27					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175965	207175965	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:207175965A>T	uc002vbp.2	+	4	6963	c.6713A>T	c.(6712-6714)tAt>tTt	p.Y2238F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2238							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGTCATAGATATCAGTCCAGG	0.373000													12	17					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	321700	321700	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:321700T>C	uc002kkm.3	-	8	2386	c.2171A>G	c.(2170-2172)gAc>gGc	p.D724G		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	724	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTTATTGACGTCTTCACATTG	0.502000													6	295					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154493952	154493952	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:154493952G>A	uc009wow.3	+	5	1204	c.366G>A	c.(364-366)ccG>ccA	p.P122P	TDRD10_uc001ffd.3_Silent_p.P122P|TDRD10_uc001ffe.3_Silent_p.P43P	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	122							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCGGGCCCCGCTGGTATGTC	0.527000													91	103					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636256	42636256	+	Silent	SNP	C	C	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:42636256C>G	uc002igx.2	+	0	1445	c.1200C>G	c.(1198-1200)ggC>ggG	p.G400G		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	400					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGAGCGGCGTGTGCTTCG	0.662000													84	8					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:153244092G>A	uc003ims.3	-	11	2227	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_uc011cii.2_Missense_Mutation_p.R689W|FBXW7_uc003imt.3_Missense_Mutation_p.R689W|FBXW7_uc011cih.2_Missense_Mutation_p.R513W|FBXW7_uc003imq.3_Missense_Mutation_p.R609W|FBXW7_uc003imr.3_Missense_Mutation_p.R571W	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	689					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R689W(17)|p.R609W(3)|p.R450W(3)|p.?(1)|p.R571W(1)|p.R689Q(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								60	70					0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69489951	69489951	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chrX:69489951C>T	uc004dyb.2	+	5	169	c.101_splice	c.e5-1	p.D34_splice	ARR3_uc004dya.3_Splice_Site_p.D34_splice	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	34					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCTCCACAGACGGTGTTGTCC	0.433000													24	4					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88938512	88938512	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:88938512C>T	uc004aou.3	-	12	2291	c.2153G>A	c.(2152-2154)aGt>aAt	p.S718N	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.S718N|ZCCHC6_uc004aot.3_Missense_Mutation_p.S595N|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	718					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGGGTGGACACTGATGTGTTC	0.413000													22	68					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466006	56466006	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:56466006G>A	uc002qmh.3	+	2	653	c.582G>A	c.(580-582)ctG>ctA	p.L194L	NLRP8_uc010etg.3_Silent_p.L194L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	194						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTCTGCTTCTGCCCAAAAGAC	0.522000													56	46					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5200325	5200325	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:5200325G>A	uc003jdl.3	+	8	1532	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R465H|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R465H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	465	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTGGCAGGACGCAATGGAGTC	0.483000													31	17					0	0	1	0	0
AK302306	0	broad.mit.edu	37	15	28600002	28600002	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:28600002T>A	uc010uaf.1	-	3	258	c.240A>T	c.(238-240)caA>caT	p.Q80H	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		TTCGTATGGTTTGAACCTGGG	0.493000													4	62					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			38	38					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111292	81111292	+	Silent	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:81111292A>T	uc001szg.2	+	0	585	c.450A>T	c.(448-450)ggA>ggT	p.G150G		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	150					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCCTGCCGGGACAGAGCTGCT	0.557000													93	137					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641781	142641781	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:142641781G>A	uc003wcb.3	-	11	1572	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	454					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGGTTTCTGAGGCGAGTGA	0.602000													8	21					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53606944	53606944	+	Missense_Mutation	SNP	G	G	A	rs143739684		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:53606944G>A	uc001scf.3	-	8	1594	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	RARG_uc001scd.3_Missense_Mutation_p.R357W|RARG_uc010sob.2_Missense_Mutation_p.R346W|RARG_uc001scg.3_Missense_Mutation_p.R296W|RARG_uc010soc.2_Missense_Mutation_p.R247W|RARG_uc001sce.3_Missense_Mutation_p.R368W	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	368	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTGGGCCGCCGGCGCCGGGCG	0.602000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	58					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707736	14707736	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:14707736G>T	uc010dzn.2	+	8	571	c.494G>T	c.(493-495)tGc>tTc	p.C165F	CLEC17A_uc010dzo.2_Missense_Mutation_p.C165F|CLEC17A_uc002mzh.2_Missense_Mutation_p.C148F|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Missense_Mutation_p.C165F	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	165						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CCTGGCTGCTGCCAGAAGAGG	0.572000													7	6					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257518	84257518	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:84257518C>A	uc002bjw.3	+	7	1028	c.833C>A	c.(832-834)aCg>aAg	p.T278K	SH3GL3_uc010uot.1_Missense_Mutation_p.T278K|SH3GL3_uc002bjx.3_Missense_Mutation_p.T209K|SH3GL3_uc002bju.3_Missense_Mutation_p.T286K|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	278					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTAGTGAAGACGACAGGTAAG	0.443000													20	13					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931940	23931940	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23931940C>T	uc001ywk.3	-	0	511	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	142	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.R142H(2)|p.R142C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGGCTGGTGCGCCGGAGGAT	0.587000									Prader-Willi syndrome				21	16					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209120	140209120	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140209120G>A	uc003lho.2	+	0	1471	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.A482T|PCDHAC2_uc011dab.2_Missense_Mutation_p.A482T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	496	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657000													67	89					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6965302	6965302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:6965302G>A	uc002knm.3	-	49	7274	c.7180C>T	c.(7180-7182)Cga>Tga	p.R2394*	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Nonsense_Mutation_p.R1870*	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2394	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCGGTTTCGCTGGAAGGCA	0.443000													50	42					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380635	147380635	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:147380635C>T	uc021ovm.1	+	0	553	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	GJA8_uc001epu.2_Missense_Mutation_p.R185W	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	185					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCTGCAGCCGGTGGCCCTG	0.567000													6	140					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64021494	64021494	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:64021494C>T	uc002amp.3	-	15	3243	c.3095G>A	c.(3094-3096)cGt>cAt	p.R1032H	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1032					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATTTGCAGAACGTGAATAAAT	0.343000													5	19					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75597241	75597241	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:75597241C>T	uc001jvv.2	-	12	1081	c.951G>A	c.(949-951)tcG>tcA	p.S317S	CAMK2G_uc001jvs.2_Silent_p.S346S|CAMK2G_uc001jvm.2_Silent_p.S325S|CAMK2G_uc001jvo.2_Silent_p.S346S|CAMK2G_uc001jvp.2_Silent_p.S325S|CAMK2G_uc001jvq.2_Silent_p.S325S|CAMK2G_uc001jvr.2_Silent_p.S325S|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Silent_p.S44S|CAMK2G_uc009xrp.1_5'UTR|CAMK2G_uc001jvw.1_5'UTR|CAMK2G_uc001jvx.1_5'UTR	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	325					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CACCGCCATCCGACTTCTTGT	0.522000													134	102					0	0	1	0	0
MYADML	151325	broad.mit.edu	37	2	33952656	33952656	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:33952656C>T	uc002rpb.3	-	0	629	c.187G>A	c.(187-189)Gcc>Acc	p.A63T						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		AAGACGATGGCGGCGATGGCG	0.647000													32	27					0	0	1	0	0
AGAP4	119016	broad.mit.edu	37	10	46322004	46322004	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:46322004G>A	uc001jcx.4	-	6	1477	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	AGAP4_uc021pps.1_Missense_Mutation_p.R451C|AGAP4_uc010qfl.2_Missense_Mutation_p.R474C|AGAP4_uc001jcy.4_Missense_Mutation_p.R366C|DQ588224_uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	451	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						GCGTTCCCACGCATGTTTTGG	0.557000													26	149					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792758	65792758	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:65792758G>A	uc001ogt.3	-	0	1231	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	365					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGGAGGACCGAGTCATGCTG	0.567000													34	40					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885021	23885021	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:23885021G>A	uc001wjx.3	-	34	5080	c.4974C>T	c.(4972-4974)gaC>gaT	p.D1658D		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1658					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGACTGCATCGTCCAGCTGAA	0.612000													28	32					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33047304	33047304	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:33047304G>A	uc001mub.3	+	1	265	c.173G>A	c.(172-174)cGt>cAt	p.R58H	DEPDC7_uc010reg.1_Missense_Mutation_p.R58H|DEPDC7_uc010reh.1_Missense_Mutation_p.R58H|DEPDC7_uc001muc.3_Missense_Mutation_p.R49H	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	58	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.F57C(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CGAAGGCACCGTTTAAAACGA	0.393000													57	42					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670673	127670674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:127670673_127670674insA	uc003vmk.3	-	1	157_158	c.20_21insT	c.(19-21)gtafs	p.V7fs	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Frame_Shift_Ins_p.V7fs	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	7						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGTGCACAGTTACCTGCCACAA	0.574													23	101	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69257046	69257073	+	Frame_Shift_Del	DEL	TCACCCTTGAGGCTGCTGAGGAGCTGGT	TCACCCTTGAGGCTGCTGAGGAGCTGGT	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	uc021rve.1	-	2	495_522	c.401_428delACCAGCTCCTCAGCAGCCTCAAGGGTGA	c.(400-429)aaccagctcctcagcagcctcaagggtgagfs	p.N134fs	ZFP36L1_uc001xki.2_Frame_Shift_Del_p.N65fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.N65fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	65					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGGGCTGGCTCACCCTTGAGGCTGCTGAGGAGCTGGTTCTGGTGGAA	0.689											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	43	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579324	7579325	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:7579324_7579325delAG	uc002gim.2	-	3	556_557	c.362_363delCT	c.(361-363)tctfs	p.S121fs	TP53_uc002gig.1_Frame_Shift_Del_p.S121fs|TP53_uc002gih.3_Frame_Shift_Del_p.S121fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.S121fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S121fs|TP53_uc002gij.2_Frame_Shift_Del_p.S121fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Del_p.S82fs|TP53_uc010cnk.1_Frame_Shift_Del_p.S136fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	121	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> F (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K120M(5)|p.K120E(3)|p.G59fs*23(3)|p.S121fs*27(2)|p.G105_T125del21(2)|p.G112_V122delGFLHSGTAKSV(2)|p.K120*(2)|p.K120R(2)|p.S121fs*2(2)|p.K120fs*3(2)|p.S121F(2)|p.V73fs*9(1)|p.V122fs*46(1)|p.H115fs*27(1)|p.K120N(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGCAAGTCACAGACTTGGCTGT	0.559		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)			69	9	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47423882	47423882	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:47423882delT	uc010ekv.3	+	0	1950	c.1950delT	c.(1948-1950)tctfs	p.S650fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	650					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTGTGAACTCTTTCCAGACGC	0.438													49	59	---	---	---	---					
KDELR1	10945	broad.mit.edu	37	19	48894581	48894582	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:48894581_48894582insG	uc002pjb.1	-	0	229_230	c.34_35insC	c.(34-36)cacfs	p.H12fs	KDELR1_uc002pja.1_5'Flank	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	12					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GGCGAGGAGGTGGGAGAGGTCT	0.663											OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	3	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57769139	57769140	+	Frame_Shift_Ins	INS	-	-	G	rs55786258	by1000genomes	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr20:57769139_57769140insG	uc002yan.3	+	0	3065_3066	c.3065_3066insG	c.(3064-3066)ttgfs	p.L1022fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCACAGTTGGGGGGGGACA	0.678													11	25	---	---	---	---					
