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
CYP26B1	56603	broad.mit.edu	37	2	72360362	72360362	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:72360362C>A	ENST00000001146.2	-	5	1139	c.936G>T	c.(934-936)ctG>ctT	p.L312L	CYP26B1_ENST00000546307.1_Silent_p.L237L|CYP26B1_ENST00000412253.1_Silent_p.L121L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	312					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGCTTCAGCAGCTGCATGA	0.657000													18	32					5.3912e-06	5.67111e-06	0.006122	1	0
SPZ1	84654	broad.mit.edu	37	5	79616268	79616268	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:79616268T>A	ENST00000296739.4	+	1	479	c.234T>A	c.(232-234)gaT>gaA	p.D78E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAATTAAAGATATTCTTAAAA	0.373000													7	151					0	0	0.003080	0	0
TRPM2	7226	broad.mit.edu	37	21	45798968	45798968	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:45798968A>T	ENST00000397928.1	+	8	1548	c.1103A>T	c.(1102-1104)aAc>aTc	p.N368I	TRPM2_ENST00000300482.5_Missense_Mutation_p.N368I|TRPM2_ENST00000397932.2_Missense_Mutation_p.N368I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.N368I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	368						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAGGTGGCCAACCTGCCTGTC	0.597000													63	95					0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714347	70714347	+	RNA	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:70714347T>A	ENST00000530196.1	-	0	171					NR_003951.1																						AGAGTGACCCTGATGTACACT	0.527000													61	242					0	0	0.003610	0	0
RRP8	23378	broad.mit.edu	37	11	6621898	6621898	+	Splice_Site	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:6621898C>A	ENST00000254605.6	-	5	1272		c.e5+1		RRP8_ENST00000534343.1_Splice_Site	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)						chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGGGCTCTTACCCTGGCTTCA	0.488000													56	112					3.76997e-23	4.64763e-23	0.003610	1	0
SOCS6	9306	broad.mit.edu	37	18	67992759	67992759	+	Silent	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:67992759G>C	ENST00000397942.3	+	2	1171	c.855G>C	c.(853-855)gtG>gtC	p.V285V	SOCS6_ENST00000582322.1_Silent_p.V285V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	285					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ATCAGTCCGTGAATGGCTTGT	0.577000													10	286					0	0	0.006214	0	0
FAT4	79633	broad.mit.edu	37	4	126370200	126370200	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:126370200G>C	ENST00000394329.3	+	9	8042	c.8029G>C	c.(8029-8031)Gaa>Caa	p.E2677Q	FAT4_ENST00000335110.5_Missense_Mutation_p.E975Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2677	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTATATCTGAAATATTGGA	0.378000													10	296					0	0	0.010729	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956162	18956162	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:18956162C>T	ENST00000302797.3	-	1	394	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGTTCCTGCGCATGCGGCA	0.557000													110	333					0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23913577	23913577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:23913577C>A	ENST00000382298.3	-	10	5026	c.4438G>T	c.(4438-4440)Gaa>Taa	p.E1480*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E730*|SACS_ENST00000382292.3_Nonsense_Mutation_p.E1480*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1480					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.E1333*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAGTAGTTCTTTAAAAATA	0.363000													60	101					2.93687e-30	3.79109e-30	0.003610	1	0
SMARCA1	6594	broad.mit.edu	37	X	128650465	128650465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:128650465G>A	ENST00000371122.4	-	3	400	c.271C>T	c.(271-273)Cga>Tga	p.R91*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R91*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R91*|SMARCA1_ENST00000478420.1_Intron	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	91					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCTTTGCTCGGTCGGCTTTC	0.343000													113	26					0	0	0.003610	0	0
GABRA1	2554	broad.mit.edu	37	5	161309626	161309626	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:161309626G>T	ENST00000428797.2	+	8	977	c.622G>T	c.(622-624)Gta>Tta	p.V208L	GABRA1_ENST00000023897.6_Missense_Mutation_p.V208L|GABRA1_ENST00000393943.4_Missense_Mutation_p.V208L|GABRA1_ENST00000437025.2_Missense_Mutation_p.V208L|GABRA1_ENST00000444819.1_Missense_Mutation_p.V208L|GABRA1_ENST00000420560.1_Missense_Mutation_p.V208L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	208					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTCAGTGGTTGTAGCAGAAGA	0.398000													30	50					3.1745e-13	3.58188e-13	0.008361	1	0
PTBP2	58155	broad.mit.edu	37	1	97270362	97270362	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:97270362C>T	ENST00000236228.6	+	9	993	c.911C>T	c.(910-912)cCa>cTa	p.P304L	PTBP2_ENST00000426398.2_Missense_Mutation_p.P304L|PTBP2_ENST00000370198.1_Missense_Mutation_p.P309L|PTBP2_ENST00000394184.3_Missense_Mutation_p.P320L|PTBP2_ENST00000370197.1_Missense_Mutation_p.P309L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Missense_Mutation_p.P273L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	304							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GCAGCTGTTCCAGGAGCTCTG	0.483000													9	126					0	0	0.006214	0	0
C16orf93	90835	broad.mit.edu	37	16	30770937	30770937	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:30770937G>A	ENST00000541260.1	-	5	908	c.578C>T	c.(577-579)tCc>tTc	p.S193F	C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron			A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	0										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTTGTCTGGGGATGGGTAAAG	0.522000													29	73					0	0	0.005443	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503412	140503412	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140503412C>A	ENST00000194152.1	+	1	1832	c.1832C>A	c.(1831-1833)cCt>cAt	p.P611H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACGGAGCCTGGGCTGTTC	0.697000													100	139					4.10057e-40	5.53875e-40	0.003610	1	0
RFTN1	23180	broad.mit.edu	37	3	16399494	16399494	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:16399494C>T	ENST00000334133.4	-	7	1363	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S328N|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	364						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TATGGTTTTGCTATCTTCTGT	0.473000													21	255					0	0	0.002780	0	0
TC2N	123036	broad.mit.edu	37	14	92258854	92258854	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:92258854G>C	ENST00000435962.2	-	9	1227	c.904C>G	c.(904-906)Cta>Gta	p.L302V	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Missense_Mutation_p.L302V|TC2N_ENST00000360594.5_Missense_Mutation_p.L302V	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	302						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ACAGTTTGTAGATTTTGAAGT	0.313000													9	144					0	0	0.006214	0	0
PRB4	5545	broad.mit.edu	37	12	11463272	11463272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:11463272C>A	ENST00000279575.1	-	1	94	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	PRB4_ENST00000535904.1_Nonsense_Mutation_p.E21*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.E21*	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	21						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTTTTACCTTCACTTGAACTC	0.532000										HNSCC(22;0.051)			131	220					1.88352e-63	2.64374e-63	0.003610	1	0
SOX6	55553	broad.mit.edu	37	11	16208467	16208467	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:16208467C>A	ENST00000352083.6	-	5	647	c.570G>T	c.(568-570)caG>caT	p.Q190H	SOX6_ENST00000396356.3_Missense_Mutation_p.Q190H|SOX6_ENST00000528252.1_Missense_Mutation_p.Q190H|SOX6_ENST00000527619.1_Missense_Mutation_p.Q193H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q190H|SOX6_ENST00000316399.6_Missense_Mutation_p.Q190H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	190					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TGGTGGAGAGCTGCCGTTCTT	0.473000													114	200					1.65932e-44	2.26758e-44	0.003610	1	0
CEP192	55125	broad.mit.edu	37	18	13105057	13105057	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:13105057G>A	ENST00000506447.1	+	40	7106	c.7026G>A	c.(7024-7026)ctG>ctA	p.L2342L	CEP192_ENST00000325971.8_Silent_p.L1746L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.L1867L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1937										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGGTCTGCTGGAAAGCCATG	0.388000													9	203					0	0	0.004482	0	0
UBAP2	55833	broad.mit.edu	37	9	33953410	33953410	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:33953410G>A	ENST00000379238.1	-	12	1046	c.929C>T	c.(928-930)tCc>tTc	p.S310F	UBAP2_ENST00000449054.1_Missense_Mutation_p.S310F|UBAP2_ENST00000360802.1_Missense_Mutation_p.S310F|UBAP2_ENST00000539807.1_Missense_Mutation_p.S65F|UBAP2_ENST00000379239.4_Missense_Mutation_p.S43F|UBAP2_ENST00000418786.2_Missense_Mutation_p.S257F			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	310										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AGTTTCAAAGGAGTTGGCTTC	0.507000													10	61					0	0	0.006214	0	0
NTNG1	22854	broad.mit.edu	37	1	107867269	107867269	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:107867269C>T	ENST00000370067.1	+	3	1239	c.612C>T	c.(610-612)atC>atT	p.I204I	NTNG1_ENST00000370065.1_Silent_p.I204I|NTNG1_ENST00000370074.4_Silent_p.I204I|NTNG1_ENST00000370068.1_Silent_p.I204I|NTNG1_ENST00000370070.2_Silent_p.I204I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Silent_p.I204I|NTNG1_ENST00000370073.2_Silent_p.I204I|NTNG1_ENST00000370071.2_Silent_p.I204I|NTNG1_ENST00000542803.1_Silent_p.I204I|NTNG1_ENST00000370061.3_Silent_p.I204I|NTNG1_ENST00000370072.3_Silent_p.I204I			Q9Y2I2	NTNG1_HUMAN	netrin G1	204	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCTTAGAAATCATTTGCACAG	0.413000													5	95					0	0	0.000602	0	0
NBPF15	284565	broad.mit.edu	37	1	148594619	148594619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:148594619G>T	ENST00000442702.2	+	21	3059	c.1992G>T	c.(1990-1992)atG>atT	p.M664I	NBPF15_ENST00000369187.3_Missense_Mutation_p.M664I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	664	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TGTTCCAGATGGGAGTCATAT	0.443000													118	325					3.59076e-93	5.07058e-93	0.003610	1	0
KDM2B	84678	broad.mit.edu	37	12	122017946	122017946	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:122017946C>G	ENST00000377069.4	-	1	418	c.12G>C	c.(10-12)gaG>gaC	p.E4D	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Intron|KDM2B_ENST00000538046.2_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	0					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGAGTCTTTCTCTGCCTCCA	0.373000													14	249					0	0	0.003163	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320615	27320615	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:27320615G>A	ENST00000407991.1	-	6	1953	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	CHRNA2_ENST00000240132.2_Missense_Mutation_p.P434S|CHRNA2_ENST00000520933.2_Missense_Mutation_p.P449S	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	449						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TCAGCCTTGGGACCTGAGGCC	0.642000													74	88					0	0	0.003610	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798039	55798039	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:55798039G>T	ENST00000313555.1	+	1	145	c.145G>T	c.(145-147)Gtt>Ttt	p.V49F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AATAATTCTAGTTAATATTAA	0.328000													31	71					6.38683e-12	7.08634e-12	0.008361	1	0
AMIGO3	386724	broad.mit.edu	37	3	49756557	49756557	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:49756557G>A	ENST00000535833.1	-	10	3792	c.342C>T	c.(340-342)ctC>ctT	p.L114L	AMIGO3_ENST00000320431.7_Silent_p.L114L|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	114					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGATAGATCGAGCAGCCTCA	0.637000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	261					0	0	0.007413	0	0
UTY	7404	broad.mit.edu	37	Y	15508854	15508854	+	Splice_Site	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrY:15508854T>A	ENST00000331397.4	-	7	1563		c.e7-2		UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000382893.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000474365.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						CTGAAAATGCTGCAAGAGAAA	0.264000													4	5					0	0	0.000602	0	0
KRT14	3861	broad.mit.edu	37	17	39742866	39742866	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:39742866C>A	ENST00000167586.6	-	1	307	c.221G>T	c.(220-222)aGc>aTc	p.S74I		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	74	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCTGCTGCTGCTGAAGCCACC	0.667000													20	11					1.28384e-07	1.37533e-07	0.012319	1	0
KLHDC7B	113730	broad.mit.edu	37	22	50987960	50987960	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:50987960C>A	ENST00000395676.2	+	1	1499	c.1365C>A	c.(1363-1365)acC>acA	p.T455T		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	455										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTACGTCACCGGGGGTCACC	0.677000													74	117					1.64915e-30	2.13474e-30	0.003610	1	0
ENTPD5	957	broad.mit.edu	37	14	74443113	74443113	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:74443113G>C	ENST00000334696.6	-	9	875	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	ENTPD5_ENST00000557325.1_Missense_Mutation_p.Q186E	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	186					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CCATGCAGCTGACCTGTCAAA	0.512000													16	103					0	0	0.004007	0	0
LRP4	4038	broad.mit.edu	37	11	46880825	46880825	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:46880825G>A	ENST00000378623.1	-	38	5669	c.5427C>T	c.(5425-5427)atC>atT	p.I1809I	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1809					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTCCCTCTACGATCTTGATCT	0.552000													63	88					0	0	0.003610	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038061	62038061	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:62038061G>T	ENST00000354587.3	-	17	2755	c.2579C>A	c.(2578-2580)cCg>cAg	p.P860Q	KCNQ2_ENST00000370226.1_Missense_Mutation_p.P822Q|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P824Q|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P860Q|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P834Q|KCNQ2_ENST00000344462.3_Missense_Mutation_p.P848Q|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P852Q|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P821Q|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P852Q			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	852					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CGAGCGTGGCGGGGGCCCGCA	0.726000													15	17					3.45872e-05	3.60573e-05	0.004007	1	0
CSF3R	1441	broad.mit.edu	37	1	36934859	36934859	+	Splice_Site	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:36934859C>T	ENST00000373103.1	-	12	2022		c.e12-1		CSF3R_ENST00000338937.5_Splice_Site|CSF3R_ENST00000373106.1_Splice_Site|CSF3R_ENST00000440588.2_Splice_Site|CSF3R_ENST00000331941.5_Splice_Site|CSF3R_ENST00000418048.2_Splice_Site|CSF3R_ENST00000487540.2_Splice_Site|CSF3R_ENST00000373104.1_Splice_Site|CSF3R_ENST00000361632.4_Splice_Site	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)						cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTGATGTTCTCTGTAGAGAGA	0.507000													35	46					0	0	0.005524	0	0
POGK	57645	broad.mit.edu	37	1	166819557	166819557	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:166819557G>A	ENST00000367875.1	+	5	2101	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	POGK_ENST00000367876.4_Missense_Mutation_p.D581N|POGK_ENST00000536514.1_Missense_Mutation_p.D496N|POGK_ENST00000537173.1_Missense_Mutation_p.D463N			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	581					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ggaggaagacgatgtcctgtg	0.517000													4	54					0	0	0.009096	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68222664	68222664	+	Splice_Site	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:68222664C>A	ENST00000347230.4	-	36	6925		c.e36+1		ZFYVE26_ENST00000557306.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTGCCATTACCTTCATAAAC	0.517000													231	312					2.06569e-100	2.92588e-100	0.003610	1	0
GAB2	9846	broad.mit.edu	37	11	77991824	77991824	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:77991824C>T	ENST00000361507.4	-	2	284	c.199G>A	c.(199-201)Gag>Aag	p.E67K	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.E29K	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	67	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCTACCTGCTCACAGAAGTTC	0.507000													88	146					0	0	0.003610	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439754	145439754	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:145439754G>A	ENST00000511217.1	+	8	1933	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.V627V			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	627							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATCCTGGTGAAACCAGAAA	0.517000													21	158					0	0	0.002299	0	0
GRM1	2911	broad.mit.edu	37	6	146720753	146720753	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:146720753G>T	ENST00000392299.2	+	8	3048	c.2578G>T	c.(2578-2580)Gtt>Ttt	p.V860F	GRM1_ENST00000507907.1_Missense_Mutation_p.V860F|GRM1_ENST00000492807.2_Missense_Mutation_p.V860F|GRM1_ENST00000282753.1_Missense_Mutation_p.V860F|GRM1_ENST00000355289.4_Missense_Mutation_p.V860F|GRM1_ENST00000361719.2_Missense_Mutation_p.V860F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	860					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCGCATGCATGTTGGCGATGG	0.527000													43	20					5.78141e-17	6.78624e-17	0.013114	1	0
MEDAG	84935	broad.mit.edu	37	13	31495969	31495969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:31495969G>T	ENST00000380482.4	+	4	1098	c.773G>T	c.(772-774)aGt>aTt	p.S258I	TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000593246.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		CGAAAGTTCAGTGTAACTTCC	0.358000													46	79					2.61675e-31	3.39668e-31	0.013114	1	0
RP1L1	94137	broad.mit.edu	37	8	10466795	10466795	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:10466795G>C	ENST00000382483.3	-	4	5036	c.4813C>G	c.(4813-4815)Cag>Gag	p.Q1605E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1605					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTCTGCGCTGCTGGGTCTGC	0.692000													19	20					0	0	0.008871	0	0
ECT2	1894	broad.mit.edu	37	3	172482216	172482216	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:172482216C>T	ENST00000417960.1	+	12	1598	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	ECT2_ENST00000232458.5_Missense_Mutation_p.S375L|ECT2_ENST00000441497.2_Missense_Mutation_p.S375L|ECT2_ENST00000427830.1_Missense_Mutation_p.S375L|ECT2_ENST00000392692.3_Missense_Mutation_p.S406L|ECT2_ENST00000540509.1_Missense_Mutation_p.S406L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	375					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCGCCCATCAGCTGAGCAT	0.453000													7	163					0	0	0.001984	0	0
ARRB1	408	broad.mit.edu	37	11	75001077	75001077	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:75001077G>A	ENST00000420843.2	-	2	124	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ARRB1_ENST00000393505.4_Silent_p.F9F|ARRB1_ENST00000360025.3_Silent_p.F9F	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	9	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGGCCTTCTTGAACACTCTGT	0.587000													54	88					0	0	0.003610	0	0
YARS2	51067	broad.mit.edu	37	12	32908789	32908789	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:32908789C>G	ENST00000324868.8	-	1	47	c.20G>C	c.(19-21)cGg>cCg	p.R7P		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	7					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGAAAAGGACCGCAAGATGGG	0.607000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	53					0	0	0.008740	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352522	58352522	+	Splice_Site	SNP	G	G	A	rs12981244	by1000genomes	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:58352522G>A	ENST00000316462.4	+	3	659	c.478_splice	c.e3+1	p.R159_splice	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.R160R|ZNF587B_ENST00000442832.4_Silent_p.R160R			B4DR41	B4DR41_HUMAN	zinc finger protein 587B	160					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										TTGTGAAGAGGTGTAAGTTGC	0.483000													6	154					0	0	0.001168	0	0
TNN	63923	broad.mit.edu	37	1	175046636	175046636	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:175046636C>G	ENST00000239462.4	+	2	195	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	28					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCAGCCACTCTGGAGCCTCC	0.592000													16	168					0	0	0.003163	0	0
DARC	2532	broad.mit.edu	37	1	159175306	159175306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:159175306G>A	ENST00000537147.1	+	3	920	c.77G>A	c.(76-78)tGg>tAg	p.W26*	DARC_ENST00000368121.2_Nonsense_Mutation_p.W28*|DARC_ENST00000368122.2_Nonsense_Mutation_p.W26*			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	26					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GAAGATGTATGGAATTCTTCC	0.537000													108	81					0	0	0.003610	0	0
BRIP1	83990	broad.mit.edu	37	17	59858314	59858314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:59858314G>A	ENST00000259008.2	-	12	1948	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.Q561*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	561					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATATCAATCTGATTTGTCCAG	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					8	132					0	0	0.004482	0	0
HTRA1	5654	broad.mit.edu	37	10	124248975	124248975	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:124248975G>T	ENST00000368984.3	+	3	738	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	204	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGCTAGTGGGTCTGGGTT	0.493000													84	142					2.28585e-32	2.99215e-32	0.003610	1	0
IGSF3	3321	broad.mit.edu	37	1	117150605	117150605	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:117150605C>A	ENST00000369486.3	-	5	1946	c.1181G>T	c.(1180-1182)aGc>aTc	p.S394I	IGSF3_ENST00000369483.1_Missense_Mutation_p.S394I|IGSF3_ENST00000318837.6_Missense_Mutation_p.S394I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	394						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGGACGCTTGCTCTCCTTATC	0.507000													10	255					0.000978159	0.00100846	0.010729	1	0
KIAA1737	85457	broad.mit.edu	37	14	77580090	77580090	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:77580090C>G	ENST00000361786.2	+	4	946	c.629C>G	c.(628-630)tCc>tGc	p.S210C	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	210										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GCTGTCCCATCCAGTCCCTCG	0.562000													6	108					0	0	0.001168	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958145	57958145	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:57958145C>A	ENST00000311591.3	+	1	240	c.183C>A	c.(181-183)ttC>ttA	p.F61L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGATGTACTTCTTCCTCAGCC	0.542000													11	101					0.000673444	0.000697389	0.008291	1	0
MGA	23269	broad.mit.edu	37	15	42041410	42041410	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:42041410C>G	ENST00000219905.7	+	17	5786	c.5605C>G	c.(5605-5607)Caa>Gaa	p.Q1869E	MGA_ENST00000566586.1_Missense_Mutation_p.Q1660E|MGA_ENST00000570161.1_Missense_Mutation_p.Q1869E|MGA_ENST00000545763.1_Missense_Mutation_p.Q1660E|MGA_ENST00000389936.4_Missense_Mutation_p.Q1830E	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1830						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCTGTAATTCAAGCTGTTGG	0.488000													23	159					0	0	0.002299	0	0
DKK2	27123	broad.mit.edu	37	4	107956578	107956578	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:107956578C>A	ENST00000285311.3	-	1	876	c.171G>T	c.(169-171)atG>atT	p.M57I	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	57					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTCCTTGGTACATGCCCGCAG	0.587000													55	98					3.84483e-29	4.93579e-29	0.003610	1	0
SH3BGR	6450	broad.mit.edu	37	21	40824019	40824019	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:40824019C>G	ENST00000333634.4	+	1	264	c.186C>G	c.(184-186)gtC>gtG	p.V62V	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380637.3_Intron	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	62					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TTCCAACTGTCGAAATGGTTA	0.502000													18	343					0	0	0.004990	0	0
UNC13C	440279	broad.mit.edu	37	15	54307337	54307337	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:54307337C>A	ENST00000545554.1	+	1	2237	c.2237C>A	c.(2236-2238)tCt>tAt	p.S746Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.S746Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.S746Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	746					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTAATTCTAATGAGCTA	0.423000													17	25					4.7546e-09	5.14071e-09	0.004007	1	0
ABCG8	64241	broad.mit.edu	37	2	44102490	44102490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:44102490C>A	ENST00000272286.2	+	11	1784	c.1694C>A	c.(1693-1695)gCc>gAc	p.A565D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	565	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCAGCAATGCCCTCTACAAC	0.612000													49	72					5.13769e-22	6.26744e-22	0.003610	1	0
MAMDC2	256691	broad.mit.edu	37	9	72755089	72755089	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:72755089C>A	ENST00000377182.4	+	8	1640	c.1023C>A	c.(1021-1023)agC>agA	p.S341R	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	341	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGGAAGCCAGCTGCAATTTTG	0.448000													87	140					2.61895e-37	3.50699e-37	0.003610	1	0
STAG2	10735	broad.mit.edu	37	X	123224615	123224615	+	Splice_Site	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:123224615G>A	ENST00000371160.1	+	31	3757		c.e31+1		STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site			Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTGATTATAAGTAAGTACATT	0.338000													36	43					0	0	0.003755	0	0
AHNAK	79026	broad.mit.edu	37	11	62298096	62298096	+	Missense_Mutation	SNP	G	G	A	rs150191644		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:62298096G>A	ENST00000378024.4	-	5	4067	c.3793C>T	c.(3793-3795)Cct>Tct	p.P1265S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1265					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)				TTGAAGCCAGGCATGCTAAAC	0.522000													299	545					0	0	0.003610	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947780	57947780	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:57947780C>A	ENST00000335397.3	+	3	1180	c.864C>A	c.(862-864)atC>atA	p.I288I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ATCCCCTCATCTACAGCCTGA	0.463000													54	95					7.47603e-22	9.07247e-22	0.003610	1	0
OR52H1	390067	broad.mit.edu	37	11	5566148	5566148	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:5566148G>A	ENST00000322653.4	-	1	631	c.606C>T	c.(604-606)atC>atT	p.I202I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGAAGTTGATGGAGATAT	0.498000													10	123					0	0	0.006214	0	0
GSDMB	55876	broad.mit.edu	37	17	38068750	38068750	+	Splice_Site	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:38068750C>T	ENST00000394175.2	-	2	459	c.235_splice	c.e2-1	p.G79_splice	GSDMB_ENST00000360317.3_Splice_Site_p.G79_splice|GSDMB_ENST00000418519.1_Splice_Site_p.G79_splice|GSDMB_ENST00000309481.7_Splice_Site_p.G79_splice|GSDMB_ENST00000520542.1_Splice_Site_p.G79_splice|GSDMB_ENST00000394179.1_Splice_Site_p.G79_splice	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	79						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AGCCTTTTGACCTGGAAAGAG	0.483000													75	61					0	0	0.003610	0	0
DNAH1	25981	broad.mit.edu	37	3	52427015	52427015	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:52427015C>T	ENST00000420323.2	+	65	10709	c.10448C>T	c.(10447-10449)tCg>tTg	p.S3483L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3548	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTCCTCTCGGGCATCGCC	0.572000													33	266					0	0	0.012213	0	0
OR6M1	390261	broad.mit.edu	37	11	123676362	123676362	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:123676362C>T	ENST00000309154.2	-	1	733	c.696G>A	c.(694-696)caG>caA	p.Q232Q		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAAAAGCTTTCTGACGGCCCT	0.512000													12	103					0	0	0.001368	0	0
CCDC57	284001	broad.mit.edu	37	17	80159691	80159691	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:80159691C>T	ENST00000389641.4	-	2	166	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CCDC57_ENST00000392347.1_Missense_Mutation_p.E44K|CCDC57_ENST00000392343.3_Missense_Mutation_p.E44K			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	44										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGCGCCTCCTCCAGCTGGCTC	0.657000													44	86					0	0	0.011902	0	0
GRIA2	2891	broad.mit.edu	37	4	158282204	158282204	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:158282204C>G	ENST00000264426.9	+	14	2613	c.2334C>G	c.(2332-2334)ggC>ggG	p.G778G	GRIA2_ENST00000449365.1_Intron|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000507898.1_Intron	NM_001083619.1	NP_001077088.1	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	778					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATGAACAAGGCCTGTTGGACA	0.433000													34	54					0	0	0.004878	0	0
KLHL22	84861	broad.mit.edu	37	22	20819347	20819347	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:20819347C>A	ENST00000328879.4	-	4	1066	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	KLHL22_ENST00000440659.2_Missense_Mutation_p.G161W	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	304					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGAATGCCCCCGAAGCCCACA	0.637000													62	97					3.56336e-21	4.29077e-21	0.003610	1	0
ELP3	55140	broad.mit.edu	37	8	27957430	27957430	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:27957430C>T	ENST00000256398.8	+	3	582	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	ELP3_ENST00000524103.1_5'UTR|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000521015.1_Missense_Mutation_p.R55C|ELP3_ENST00000523760.1_3'UTR	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	69					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TCCTCAGTATCGCAAGGTCTT	0.507000													10	162					0	0	0.006214	0	0
OR2W1	26692	broad.mit.edu	37	6	29012475	29012475	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:29012475A>T	ENST00000377175.1	-	1	542	c.478T>A	c.(478-480)Tgt>Agt	p.C160S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTGAGTGTACATAATACTACA	0.393000													70	116					0	0	0.003610	0	0
OR51V1	283111	broad.mit.edu	37	11	5220994	5220994	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:5220994G>T	ENST00000321255.1	-	1	936	c.937C>A	c.(937-939)Ctt>Att	p.L313I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGTCTAAGCATTCTGGTA	0.373000													37	80					6.90743e-12	7.64575e-12	0.003755	1	0
XIRP2	129446	broad.mit.edu	37	2	168115168	168115168	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:168115168G>C	ENST00000409728.1	+	11	2300	c.2211G>C	c.(2209-2211)ttG>ttC	p.L737F	XIRP2_ENST00000409756.2_Missense_Mutation_p.L704F|XIRP2_ENST00000409605.1_Missense_Mutation_p.L482F|XIRP2_ENST00000409043.1_Missense_Mutation_p.L704F|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.L737F	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1255					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAAAATTTGAATAAGAATA	0.303000													11	87					0	0	0.008291	0	0
NMUR2	56923	broad.mit.edu	37	5	151784362	151784362	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:151784362C>T	ENST00000255262.3	-	1	478	c.313G>A	c.(313-315)Gag>Aag	p.E105K	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	105					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CGCCACATCTCATAGACCTCC	0.587000													7	216					0	0	0.003080	0	0
DNAJC16	23341	broad.mit.edu	37	1	15892593	15892593	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:15892593C>A	ENST00000375847.3	+	13	1860	c.1696C>A	c.(1696-1698)Cga>Aga	p.R566R	DNAJC16_ENST00000375849.1_Silent_p.R566R|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375838.1_Silent_p.R566R	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	566					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TAATGATGAGCGAGAGTCAAG	0.438000													10	204					2.17888e-05	2.2817e-05	0.006214	1	0
SERPINB2	5055	broad.mit.edu	37	18	61569653	61569653	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:61569653G>T	ENST00000457692.1	+	8	1027	c.694G>T	c.(694-696)Gta>Tta	p.V232L	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.V232L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	232					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCGCACACCTGTACAGATGAT	0.358000													39	84					9.8876e-21	1.18448e-20	0.004878	1	0
ROCK1	6093	broad.mit.edu	37	18	18600168	18600168	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:18600168C>A	ENST00000399799.1	-	12	2245	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	435	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCTGTTCTTCCAGCTTATAGA	0.269000													18	42					1.99824e-07	2.13573e-07	0.004990	1	0
TREM2	54209	broad.mit.edu	37	6	41126368	41126368	+	Silent	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:41126368G>C	ENST00000338469.3	-	4	736	c.633C>G	c.(631-633)tcC>tcG	p.S211S	TREM2_ENST00000373113.3_3'UTR|TREM2_ENST00000373122.4_3'UTR	NM_001271821.1	NP_001258750.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0			L -> P (in dbSNP:rs2234256).		axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGGTCCAGGAGAAGCAGT	0.517000													5	15					0	0	0.000602	0	0
LRRC66	339977	broad.mit.edu	37	4	52860682	52860682	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:52860682C>T	ENST00000343457.3	-	4	2512	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	836						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAATGCCATTCTGCTGCCTTG	0.473000													57	92					0	0	0.003610	0	0
DLG5	9231	broad.mit.edu	37	10	79553869	79553869	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:79553869C>G	ENST00000372391.2	-	31	5558	c.5553G>C	c.(5551-5553)caG>caC	p.Q1851H	DLG5_ENST00000372388.2_Missense_Mutation_p.Q1511H|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1851	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGGGTCTCTCTGCTCCCTGT	0.587000													9	193					0	0	0.004482	0	0
GNA15	2769	broad.mit.edu	37	19	3163000	3163000	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:3163000G>A	ENST00000262958.3	+	7	1366	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	370					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTACCTGGACGAGATCAACCT	0.662000											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	42					0	0	0.001168	0	0
ZIC4	84107	broad.mit.edu	37	3	147113967	147113967	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:147113967C>A	ENST00000383075.3	-	3	872	c.360G>T	c.(358-360)atG>atT	p.M120I	ZIC4_ENST00000525172.2_Missense_Mutation_p.M170I|ZIC4_ENST00000473123.1_Missense_Mutation_p.M120I|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.M120I|ZIC4_ENST00000425731.3_Missense_Mutation_p.M158I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	120						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGCTGGCGCATGTAGCGGA	0.657000													31	67					1.16021e-09	1.26027e-09	0.007291	1	0
MED12	9968	broad.mit.edu	37	X	70346925	70346925	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:70346925G>C	ENST00000333646.6	+	20	2991	c.2792G>C	c.(2791-2793)cGg>cCg	p.R931P	MED12_ENST00000374080.3_Missense_Mutation_p.R931P|MED12_ENST00000374102.1_Missense_Mutation_p.R931P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	931					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTGTCCTGCGGCACTATCAT	0.527000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						37	16					0	0	0.004289	0	0
C9orf171	389799	broad.mit.edu	37	9	135285781	135285781	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:135285781C>T	ENST00000343036.2	+	1	171	c.123C>T	c.(121-123)atC>atT	p.I41I	C9orf171_ENST00000393216.2_Silent_p.I41I|C9orf171_ENST00000393215.3_Silent_p.I41I	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	41										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TGGCGGACATCCGTTCCGGCA	0.697000													15	13					0	0	0.006122	0	0
ZNF512	84450	broad.mit.edu	37	2	27822465	27822465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:27822465C>T	ENST00000556601.1	+	3	301	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	ZNF512_ENST00000379717.1_Missense_Mutation_p.S97L|ZNF512_ENST00000413371.2_Missense_Mutation_p.S21L|ZNF512_ENST00000416005.2_Missense_Mutation_p.S97L|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000355467.4_Missense_Mutation_p.S98L			Q96ME7	ZN512_HUMAN	zinc finger protein 512	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGTGGAGTATCAGCCAAGGGG	0.403000													32	82					0	0	0.004878	0	0
DOCK3	1795	broad.mit.edu	37	3	51265438	51265438	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:51265438C>G	ENST00000266037.9	+	17	1589	c.1566C>G	c.(1564-1566)ctC>ctG	p.L522L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	522	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAAAGAAACTCTTTGGCTTTG	0.438000													30	56					0	0	0.009535	0	0
DOT1L	84444	broad.mit.edu	37	19	2216400	2216400	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:2216400G>T	ENST00000398665.3	+	20	2080	c.2044G>T	c.(2044-2046)Gag>Tag	p.E682*		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	682						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		CCTGGGCCGCGAGCTGGAGCC	0.677000													37	21					6.03168e-27	7.55582e-27	0.004878	1	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													4	73					0	0	0.009096	0	0
CHD5	26038	broad.mit.edu	37	1	6171840	6171840	+	Silent	SNP	G	G	A	rs147401166	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:6171840G>A	ENST00000262450.3	-	36	5343	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	CHD5_ENST00000378021.1_Silent_p.I605I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1748					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GATACGTCACGATGCCCGCCA	0.652000													7	89					0	0	0.004482	0	0
AMPD1	270	broad.mit.edu	37	1	115218551	115218551	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:115218551C>G	ENST00000369538.3	-	10	1596	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	AMPD1_ENST00000520113.2_Missense_Mutation_p.E521Q|AMPD1_ENST00000353928.6_Missense_Mutation_p.E488Q	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	488					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)	Adenosine monophosphate(DB00131)	ATGGTGGCCTCAAACACTGGC	0.463000													32	223					0	0	0.009535	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589218	140589218	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140589218T>A	ENST00000239450.2	+	1	928	c.739T>A	c.(739-741)Tat>Aat	p.Y247N	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		247	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTTTATGAGGTGAA	0.502000													24	349					0	0	0.005443	0	0
RNF8	9025	broad.mit.edu	37	6	37358601	37358601	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:37358601C>T	ENST00000469731.1	+	7	1394	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	RNF8_ENST00000373479.4_3'UTR			O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	0					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTGGAGGATTCTCTCTAGCCG	0.512000													6	138					0	0	0.001984	0	0
C9orf171	389799	broad.mit.edu	37	9	135285844	135285844	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:135285844C>T	ENST00000343036.2	+	1	234	c.186C>T	c.(184-186)ctC>ctT	p.L62L	C9orf171_ENST00000393216.2_Silent_p.L62L|C9orf171_ENST00000393215.3_Silent_p.L62L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	62										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AGAACCCTCTCATCGTCAAGG	0.746000													20	11					0	0	0.002299	0	0
SDHA	6389	broad.mit.edu	37	5	251218	251218	+	Splice_Site	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:251218G>T	ENST00000264932.6	+	12	1778	c.1663_splice	c.e12+1	p.G555_splice	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Splice_Site_p.G507_splice	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	555			G -> E (in MT-C2D and CMD1GG).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTTCGACCGGGGTGAGCAGAC	0.567000									Familial Paragangliomas				64	114					7.82978e-24	9.70393e-24	0.003610	1	0
SLTM	79811	broad.mit.edu	37	15	59179181	59179181	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:59179181C>T	ENST00000380516.2	-	19	2915	c.2828G>A	c.(2827-2829)gGa>gAa	p.G943E	SLTM_ENST00000536328.1_Missense_Mutation_p.G512E	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	943					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TACCTGTGATCCACCTCCTCG	0.567000													10	106					0	0	0.006214	0	0
TCHH	7062	broad.mit.edu	37	1	152083562	152083562	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:152083562C>T	ENST00000368804.1	-	2	2130	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	711					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGTCGGCCTCGCTTTCTAGC	0.652000													41	452					0	0	0.009718	0	0
TATDN2	9797	broad.mit.edu	37	3	10312076	10312076	+	Missense_Mutation	SNP	G	G	A	rs142076830	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:10312076G>A	ENST00000287652.4	+	4	2261	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	TATDN2_ENST00000448281.2_Missense_Mutation_p.D404N|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	404						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CAGCAGCAACGATGCAGCCCA	0.572000													17	258					0	0	0.006122	0	0
UGP2	7360	broad.mit.edu	37	2	64112839	64112839	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:64112839A>G	ENST00000337130.5	+	6	1168	c.692A>G	c.(691-693)tAc>tGc	p.Y231C	UGP2_ENST00000445915.2_Missense_Mutation_p.Y240C|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.Y220C|UGP2_ENST00000394417.2_Missense_Mutation_p.Y220C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	231					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GCCAGTTTCTACAACTCTGGA	0.398000													122	158					0	0	0.003610	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651399	1651399	+	Missense_Mutation	SNP	G	G	A	rs77602976		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:1651399G>A	ENST00000399676.2	+	1	367	c.329G>A	c.(328-330)gGc>gAc	p.G110D		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	110	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGCCTGTGGCTCCTGTGGG	0.692000													54	106					0	0	0.003610	0	0
GRM8	2918	broad.mit.edu	37	7	126542710	126542710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:126542710G>A	ENST00000339582.2	-	6	1850	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R348*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.R348*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R348*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	348					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCAAGAGTTCGGCTTCTAAAG	0.343000										HNSCC(24;0.065)			6	108					0	0	0.001984	0	0
EIF4B	1975	broad.mit.edu	37	12	53421875	53421875	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:53421875C>T	ENST00000262056.9	+	8	1208	c.882C>T	c.(880-882)ggC>ggT	p.G294G	EIF4B_ENST00000420463.3_Silent_p.G294G|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Silent_p.G255G	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	294	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACAGAGGAGGCGGGGACCGCT	0.488000													15	149					0	0	0.004007	0	0
MLF1	4291	broad.mit.edu	37	3	158310301	158310301	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:158310301C>T	ENST00000359117.5	+	2	287	c.51C>T	c.(49-51)ctC>ctT	p.L17L	MLF1_ENST00000484955.1_Silent_p.L17L|MLF1_ENST00000471745.1_Silent_p.L17L|MLF1_ENST00000355893.5_Silent_p.L42L|MLF1_ENST00000469452.1_Silent_p.L17L|MLF1_ENST00000478894.2_Silent_p.L17L|MLF1_ENST00000482628.1_Silent_p.L17L|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000392822.3_Silent_p.L58L	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	42		Breakpoint for translocation to form NPM- MLF1.			cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GAGACTTGCTCAGTATCTCTG	0.373000			T	NPM1	AML								10	164					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	215901717	215901717	+	Silent	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:215901717A>T	ENST00000366943.2	-	61	12107	c.11721T>A	c.(11719-11721)gcT>gcA	p.A3907A	USH2A_ENST00000307340.3_Silent_p.A3907A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3907	Fibronectin type-III 24.				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)		CTTCAATGCCAGCAGGGCGTC	0.423000										HNSCC(13;0.011)			8	120					0	0	0.006214	0	0
BRIP1	83990	broad.mit.edu	37	17	59858278	59858278	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:59858278G>A	ENST00000259008.2	-	12	1984	c.1717C>T	c.(1717-1719)Cta>Tta	p.L573L	BRIP1_ENST00000577598.1_Silent_p.L573L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	573					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTTTTGGTAGAACCAACAAC	0.358000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					5	155					0	0	0.000602	0	0
C6orf136	221545	broad.mit.edu	37	6	30619070	30619070	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:30619070G>A	ENST00000293604.6	+	4	1327	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	C6orf136_ENST00000376471.4_Silent_p.L63L|C6orf136_ENST00000528347.2_Silent_p.L54L|C6orf136_ENST00000376473.5_Silent_p.L197L	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	197										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTCTTTCACTGACCCTCTGCC	0.507000													76	692					0	0	0.003610	0	0
ITLN1	55600	broad.mit.edu	37	1	160846509	160846509	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:160846509C>G	ENST00000326245.3	-	8	1002	c.887G>C	c.(886-888)gGt>gCt	p.G296A		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	296					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGCTGTAACCAACATGAGT	0.502000													99	97					0	0	0.003610	0	0
LONP1	9361	broad.mit.edu	37	19	5700844	5700844	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:5700844C>G	ENST00000360614.3	-	9	1619	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	LONP1_ENST00000540670.2_Missense_Mutation_p.E292Q|LONP1_ENST00000585374.1_Missense_Mutation_p.E374Q|LONP1_ENST00000593119.1_Missense_Mutation_p.E424Q|LONP1_ENST00000590729.1_Missense_Mutation_p.E358Q	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	488					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGTCTTCCTCCAGCACTGCC	0.612000													12	85					0	0	0.001368	0	0
PWP1	11137	broad.mit.edu	37	12	108086843	108086843	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:108086843G>A	ENST00000412830.3	+	5	640	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	PWP1_ENST00000541166.1_Missense_Mutation_p.E96K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	158					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGCCGAGCTGAACAGGACCA	0.338000													12	104					0	0	0.001368	0	0
SPTA1	6708	broad.mit.edu	37	1	158596715	158596715	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:158596715G>C	ENST00000368148.3	-	41	5927	c.5747C>G	c.(5746-5748)gCa>gGa	p.A1916G	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1913G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1916					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAGCTATTGCCTTAGCCAG	0.458000													269	202					0	0	0.003610	0	0
CUL9	23113	broad.mit.edu	37	6	43155663	43155663	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:43155663C>G	ENST00000252050.4	+	7	1878	c.1794C>G	c.(1792-1794)tcC>tcG	p.S598S	CUL9_ENST00000372647.2_Silent_p.S598S|CUL9_ENST00000354495.3_Silent_p.S488S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	598					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAGAGGAGTCCAAGTCGGAGG	0.547000													39	62					0	0	0.004289	0	0
MTMR1	8776	broad.mit.edu	37	X	149905079	149905079	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:149905079G>A	ENST00000445323.2	+	11	1214	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MTMR1_ENST00000541925.1_Missense_Mutation_p.G263R|MTMR1_ENST00000370390.3_Missense_Mutation_p.G357R|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000451863.2_Missense_Mutation_p.G357R|MTMR1_ENST00000544228.1_Missense_Mutation_p.G357R			Q13613	MTMR1_HUMAN	myotubularin related protein 1	357	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGGTGGAGGATATGAAAG	0.363000													58	26					0	0	0.003610	0	0
UNC45B	146862	broad.mit.edu	37	17	33475347	33475347	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:33475347A>G	ENST00000268876.5	+	2	162	c.65A>G	c.(64-66)tAc>tGc	p.Y22C	UNC45B_ENST00000394570.2_Missense_Mutation_p.Y22C|UNC45B_ENST00000433649.1_Missense_Mutation_p.Y22C|UNC45B_ENST00000378449.1_Missense_Mutation_p.Y22C|UNC45B_ENST00000591048.1_Missense_Mutation_p.Y22C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	22					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTCCAGGACTACAAGGCCGCC	0.597000													55	156					0	0	0.003610	0	0
OR4K2	390431	broad.mit.edu	37	14	20344916	20344916	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:20344916C>A	ENST00000298642.2	+	1	526	c.490C>A	c.(490-492)Ctc>Atc	p.L164I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATATTTGCCCTCACGTTACC	0.483000													61	1102					6.7651e-33	8.90547e-33	0.003610	1	0
CDK10	8558	broad.mit.edu	37	16	89756987	89756987	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:89756987G>C	ENST00000331006.8	+	2	1787	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	CDK10_ENST00000353379.7_Missense_Mutation_p.E63Q|CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000514965.1_3'UTR			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	63					negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCAGACAGATGAGATTGTCGC	0.572000													5	166					0	0	0.001168	0	0
ATM	472	broad.mit.edu	37	11	108196896	108196896	+	Missense_Mutation	SNP	C	C	T	rs56009889	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:108196896C>T	ENST00000278616.4	+	47	7304	c.6919C>T	c.(6919-6921)Ctt>Ttt	p.L2307F	ATM_ENST00000452508.2_Missense_Mutation_p.L2307F|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2307	FAT.		L -> F.		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAGCAGAGTCTTGCCCTGAG	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			57	95					0	0	0.003610	0	0
FAM120A	23196	broad.mit.edu	37	9	96320268	96320268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:96320268C>T	ENST00000277165.6	+	14	2838	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q910*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q882*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	882	RNA binding.					cytoplasm|plasma membrane	RNA binding	p.Q882*(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCCACCCTCTCAGGGCAGGGG	0.602000													4	29					0	0	0.009096	0	0
COG3	83548	broad.mit.edu	37	13	46050484	46050484	+	Splice_Site	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:46050484T>A	ENST00000349995.5	+	2	433		c.e2+2			NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3						ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GCACAGCAGGTGAATTGCAGT	0.373000													45	100					0	0	0.011902	0	0
PTPN5	84867	broad.mit.edu	37	11	18763858	18763858	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:18763858C>T	ENST00000396170.1	-	7	1844	c.580G>A	c.(580-582)Gag>Aag	p.E194K	PTPN5_ENST00000477854.1_Missense_Mutation_p.E30K|PTPN5_ENST00000396167.2_Missense_Mutation_p.E194K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E226K|PTPN5_ENST00000396168.1_Missense_Mutation_p.E202K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E226K|PTPN5_ENST00000496201.2_5'UTR	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	226						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGGTCAGCCTCAGGCTTGATG	0.597000													20	185					0	0	0.008871	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397659	75397659	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:75397659A>G	ENST00000359322.4	-	3	459	c.95T>C	c.(94-96)tTg>tCg	p.L32S		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	32					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCCCAGGTTCAAGCCTGAGCT	0.512000													24	319					0	0	0.003330	0	0
NDUFA5	4698	broad.mit.edu	37	7	123182242	123182242	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:123182242C>T	ENST00000471770.1	-	5	416	c.282G>A	c.(280-282)atG>atA	p.M94I	NDUFA5_ENST00000355749.2_Missense_Mutation_p.M94I|NDUFA5_ENST00000467117.1_5'UTR			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	94					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	TCCATTCCCTCATTTTTCTTG	0.363000													6	108					0	0	0.001984	0	0
PSAPL1	768239	broad.mit.edu	37	4	7436310	7436310	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:7436310G>T	ENST00000319098.4	-	1	390	c.297C>A	c.(295-297)ccC>ccA	p.P99P	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	99	Saposin B-type 1.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						ACTCCTGGCTGGGGAGCCACT	0.632000													9	47					3.09899e-07	3.28958e-07	0.004482	1	0
NUP155	9631	broad.mit.edu	37	5	37303423	37303423	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:37303423C>T	ENST00000231498.3	-	28	3459	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	NUP155_ENST00000513532.1_Missense_Mutation_p.E1022K|NUP155_ENST00000381843.2_Missense_Mutation_p.E1027K|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1086					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGTTCTTCTCGTAATACCGC	0.403000													12	118					0	0	0.001368	0	0
OR4C16	219428	broad.mit.edu	37	11	55339784	55339784	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:55339784C>T	ENST00000314634.3	+	1	181	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTCTTCTTCCTTTTCTACTT	0.398000													149	222					0	0	0.003610	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361092	105361092	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:105361092G>A	ENST00000297581.2	+	2	361	c.312G>A	c.(310-312)ggG>ggA	p.G104G	DCSTAMP_ENST00000517991.1_Silent_p.G104G|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	104					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTGGCACAGGGATCGTCATCT	0.438000													5	117					0	0	0.000602	0	0
TMEM120B	144404	broad.mit.edu	37	12	122150869	122150869	+	Splice_Site	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:122150869A>T	ENST00000449592.2	+	1	169	c.69_splice	c.e1+1	p.Q23_splice		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	23						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CAAGAACTGCAGGTAGGGCCA	0.701000													12	16					0	0	0.001368	0	0
IQGAP2	10788	broad.mit.edu	37	5	75997028	75997028	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:75997028C>G	ENST00000274364.6	+	34	4792	c.4495C>G	c.(4495-4497)Caa>Gaa	p.Q1499E	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.Q1001E|IQGAP2_ENST00000396234.3_Missense_Mutation_p.Q995E|IQGAP2_ENST00000502745.1_Missense_Mutation_p.Q995E	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1499					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGATGATCTTCAAACAAACCA	0.468000													7	202					0	0	0.004482	0	0
ACD	65057	broad.mit.edu	37	16	67691688	67691688	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:67691688G>A	ENST00000219251.8	-	11	1855	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	ACD_ENST00000393919.4_Silent_p.L511L	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	511					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGAGCACAGAGGGACGTGC	0.572000													12	123					0	0	0.001855	0	0
STAG2	10735	broad.mit.edu	37	X	123227890	123227890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:123227890G>T	ENST00000371160.1	+	32	3780	c.3490G>T	c.(3490-3492)Gaa>Taa	p.E1164*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.E1201*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E1201*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E1164*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.E1164*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E1095*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1164					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGCCTAATGGAAGATGATGA	0.408000													19	122					0.000958276	0.000990147	0.007413	1	0
AKT3	10000	broad.mit.edu	37	1	243800930	243800930	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:243800930C>G	ENST00000366539.1	-	6	744	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	AKT3_ENST00000336199.5_Missense_Mutation_p.E182Q|AKT3_ENST00000366540.1_Missense_Mutation_p.E182Q|AKT3_ENST00000263826.5_Missense_Mutation_p.E182Q			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	182	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.E182*(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATAATGACTTCTTTCTTCAGA	0.333000													4	106					0	0	0.000602	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948046	68948046	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:68948046C>A	ENST00000456315.2	-	8	1559	c.1445G>T	c.(1444-1446)gGt>gTt	p.G482V	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	482					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCTCTTAAAACCAGCACTGAA	0.368000													52	92					2.43468e-25	3.03359e-25	0.003610	1	0
TNFRSF9	3604	broad.mit.edu	37	1	7997783	7997783	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:7997783T>C	ENST00000377507.3	-	5	546	c.380A>G	c.(379-381)gAt>gGt	p.D127G		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	127					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTTTCTGATCGTTAAATGT	0.328000													53	86					0	0	0.003610	0	0
RASSF5	83593	broad.mit.edu	37	1	206681283	206681283	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:206681283G>A	ENST00000338603.2	+	1	405	c.348G>A	c.(346-348)ccG>ccA	p.P116P	RASSF5_ENST00000367117.3_Silent_p.P116P|RASSF5_ENST00000355294.4_Silent_p.P116P	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	116					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAGAGTCCCGGCGGAGCGAG	0.741000													14	8					0	0	0.001855	0	0
LRFN2	57497	broad.mit.edu	37	6	40360011	40360011	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:40360011C>T	ENST00000338305.6	-	3	2583	c.2041G>A	c.(2041-2043)Ggg>Agg	p.G681R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	681						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCCTCTCCCGGCTGGAGTC	0.716000													11	17					0	0	0.010729	0	0
LENG9	94059	broad.mit.edu	37	19	54973285	54973285	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:54973285C>G	ENST00000333834.4	-	1	1609	c.1491G>C	c.(1489-1491)gaG>gaC	p.E497D		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	497					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCAGGCGGATCTCAGCCAGGG	0.607000													20	117					0	0	0.010504	0	0
PI4KB	5298	broad.mit.edu	37	1	151288555	151288555	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:151288555C>G	ENST00000368875.2	-	3	1019	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	PI4KB_ENST00000271657.5_Missense_Mutation_p.E147Q|PI4KB_ENST00000368873.1_Missense_Mutation_p.E135Q|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.E135Q|PI4KB_ENST00000368874.4_Missense_Mutation_p.E135Q	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	135					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTTTTGACTCAAACAGCCTC	0.522000													9	219					0	0	0.006214	0	0
ALK	238	broad.mit.edu	37	2	29606635	29606635	+	Silent	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:29606635A>T	ENST00000389048.3	-	5	2151	c.1245T>A	c.(1243-1245)tcT>tcA	p.S415S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	415	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCCACTGCAGACAAGCTGC	0.507000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				61	77					0	0	0.003610	0	0
EPHB6	2051	broad.mit.edu	37	7	142567669	142567669	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:142567669G>A	ENST00000392957.2	+	17	3344	c.2557G>A	c.(2557-2559)Gaa>Aaa	p.E853K	EPHB6_ENST00000411471.2_Missense_Mutation_p.E576K|EPHB6_ENST00000442129.1_Missense_Mutation_p.E853K|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	853	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACTCATGTGGGAAGTGATGAG	0.542000													7	90					0	0	0.003080	0	0
CAPN9	10753	broad.mit.edu	37	1	230904925	230904925	+	Splice_Site	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:230904925G>C	ENST00000354537.1	+	6	787		c.e6-1		CAPN9_ENST00000366666.2_Splice_Site|CAPN9_ENST00000271971.2_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CCATGTTTTAGACCAGAAGTG	0.547000													8	264					0	0	0.006214	0	0
SMR3A	26952	broad.mit.edu	37	4	71227876	71227876	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:71227876C>T	ENST00000226460.4	+	2	140	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	15						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GCTCTTGCAGCGTGTTTCACA	0.348000													10	252					0	0	0.003271	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768723	138768723	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:138768723G>C	ENST00000242351.5	-	3	816	c.500C>G	c.(499-501)cCg>cGg	p.P167R	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P167R|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P167R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	167					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCTTGAACACGGTGGCTGCTG	0.507000													26	69					0	0	0.006320	0	0
TLDC1	57707	broad.mit.edu	37	16	84520565	84520565	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:84520565C>G	ENST00000343629.6	-	5	812	c.630G>C	c.(628-630)ctG>ctC	p.L210L	TLDC1_ENST00000535580.1_Silent_p.L183L	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TGACCACACTCAGGAATATGG	0.562000													8	103					0	0	0.003080	0	0
MYH13	8735	broad.mit.edu	37	17	10250001	10250001	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:10250001T>A	ENST00000418404.3	-	12	1422	c.1259A>T	c.(1258-1260)cAg>cTg	p.Q420L	MYH13_ENST00000252172.4_Missense_Mutation_p.Q420L|MYH13_ENST00000570743.1_Missense_Mutation_p.Q420L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	420	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATTACCTGCTGGACATTTTG	0.438000													32	33					0	0	0.010818	0	0
NARFL	64428	broad.mit.edu	37	16	783371	783371	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:783371C>G	ENST00000540986.1	-	6	1879	c.444G>C	c.(442-444)aaG>aaC	p.K148N	NARFL_ENST00000568545.1_Missense_Mutation_p.K148N|NARFL_ENST00000251588.2_Missense_Mutation_p.K250N|NARFL_ENST00000301694.5_3'UTR|HAGHL_ENST00000569604.1_Intron|NARFL_ENST00000562862.1_5'UTR			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	250					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AGGCTTCCAGCTTTTTGTCAT	0.547000													40	119					0	0	0.009718	0	0
SPHKAP	80309	broad.mit.edu	37	2	228856021	228856021	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:228856021C>A	ENST00000392056.3	-	10	4789	c.4743G>T	c.(4741-4743)aaG>aaT	p.K1581N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.K1552N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1581						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTAAGAATCTTCTTTTCTT	0.403000													79	132					1.26005e-42	1.70693e-42	0.003610	1	0
ARGFX	503582	broad.mit.edu	37	3	121305102	121305102	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:121305102T>A	ENST00000334384.3	+	4	613	c.603T>A	c.(601-603)agT>agA	p.S201R		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GTTCTACCAGTGACTTCCAAA	0.463000													107	177					0	0	0.003610	0	0
TRIM13	10206	broad.mit.edu	37	13	50586524	50586524	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:50586524G>C	ENST00000378182.3	+	2	1186	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	TRIM13_ENST00000420995.2_Missense_Mutation_p.E150Q|TRIM13_ENST00000298772.5_Missense_Mutation_p.E153Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.E153Q|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.E150Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	150					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CCAGAGCTTTGAGACCTGGCG	0.468000													6	147					0	0	0.001984	0	0
CYLC1	1538	broad.mit.edu	37	X	83128707	83128707	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:83128707G>C	ENST00000329312.4	+	4	1028	c.991G>C	c.(991-993)Gag>Cag	p.E331Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	331					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAGGACACAGAGTCTACTGA	0.333000													40	8					0	0	0.006999	0	0
MDGA2	161357	broad.mit.edu	37	14	47342758	47342758	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:47342758A>T	ENST00000426342.1	-	14	2482	c.1736T>A	c.(1735-1737)tTg>tAg	p.L579*	MDGA2_ENST00000399232.2_Nonsense_Mutation_p.L877*|MDGA2_ENST00000399222.3_Nonsense_Mutation_p.L10*|MDGA2_ENST00000439988.2_Nonsense_Mutation_p.L808*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.L579*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	808	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCGCCTTCCAATCTGGGTCG	0.363000													86	159					0	0	0.003610	0	0
OR2G3	81469	broad.mit.edu	37	1	247769413	247769413	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:247769413C>T	ENST00000320002.2	+	1	558	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGGCTGGACCATTTTATTTG	0.448000													154	120					0	0	0.003610	0	0
ACTN4	81	broad.mit.edu	37	19	39212308	39212308	+	Silent	SNP	C	C	T	rs149647148		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:39212308C>T	ENST00000252699.2	+	12	1498	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Silent_p.A255A	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	474					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCAGATCGCCGCCATTGCCC	0.642000													5	74					0	0	0.001984	0	0
OR4N4	283694	broad.mit.edu	37	15	22382892	22382892	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:22382892C>T	ENST00000328795.4	+	1	511	c.420C>T	c.(418-420)gcC>gcT	p.A140A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	140					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)		ACCCTAGAGCCTGCTATGCAA	0.542000													114	385					0	0	0.003610	0	0
HRH2	3274	broad.mit.edu	37	5	175111128	175111128	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:175111128G>T	ENST00000231683.2	+	1	2665	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	HRH2_ENST00000377291.2_Missense_Mutation_p.G298W	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	298					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.G298W(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTTCCGCACCGGGTACCAACA	0.567000													61	72					1.08141e-31	1.40764e-31	0.003610	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332734	22332734	+	RNA	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:22332734G>A	ENST00000558896.1	+	0	541																											CACTTTCTAGGAGCCAGTGAG	0.473000													30	103					0	0	0.008361	0	0
CCR4	1233	broad.mit.edu	37	3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478000													55	109					0	0	0.003610	0	0
GMEB2	26205	broad.mit.edu	37	20	62223949	62223949	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:62223949C>T	ENST00000266068.1	-	7	1244	c.766G>A	c.(766-768)Gag>Aag	p.E256K	GMEB2_ENST00000370069.1_Missense_Mutation_p.E205K|GMEB2_ENST00000370077.1_Missense_Mutation_p.E256K			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	256					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCACCAGCTCCTGGTGGAAC	0.612000													12	110					0	0	0.010729	0	0
ERG	2078	broad.mit.edu	37	21	39763602	39763602	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:39763602C>T	ENST00000442448.1	-	9	1070	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	ERG_ENST00000398897.1_Missense_Mutation_p.E168K|ERG_ENST00000398905.1_Missense_Mutation_p.E260K|ERG_ENST00000417133.2_Missense_Mutation_p.E291K|ERG_ENST00000398911.1_Missense_Mutation_p.E267K|ERG_ENST00000398919.2_Missense_Mutation_p.E291K|ERG_ENST00000398907.1_Missense_Mutation_p.E261K|ERG_ENST00000398910.1_Missense_Mutation_p.E268K|ERG_ENST00000453032.2_Missense_Mutation_p.E192K|ERG_ENST00000288319.7_Missense_Mutation_p.E284K	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	291					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CGCTGGTCTTCAGTTTTGGGC	0.423000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								62	102					0	0	0.003610	0	0
GSG2	83903	broad.mit.edu	37	17	3629172	3629172	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:3629172G>A	ENST00000325418.4	+	1	1962	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	648	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										TTTGAGCACCGAGACTTACAC	0.527000													14	149					0	0	0.001855	0	0
RPUSD2	27079	broad.mit.edu	37	15	40861844	40861844	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:40861844G>A	ENST00000315616.7	+	1	346	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RPUSD2_ENST00000559271.1_Missense_Mutation_p.R103Q	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	103					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		AAGAAGCGGCGGGGCGCAACC	0.687000													8	12					0	0	0.003080	0	0
WARS	7453	broad.mit.edu	37	14	100801257	100801257	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:100801257C>T	ENST00000355338.2	-	11	1989	c.1371G>A	c.(1369-1371)gtG>gtA	p.V457V	WARS_ENST00000344102.5_Silent_p.V416V|WARS_ENST00000556645.1_Silent_p.V416V|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Silent_p.V457V|WARS_ENST00000392882.2_Silent_p.V457V|WARS_ENST00000358655.4_Silent_p.V416V	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	457					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGAACTCTTTCACTATCTCAT	0.483000													7	163					0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2976727	2976727	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:2976727C>T	ENST00000396946.4	-	9	1688	c.1285G>A	c.(1285-1287)Gtc>Atc	p.V429I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	429					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCAGGTTGACGATGCAGGCC	0.622000			Mis		DLBCL								34	39					0	0	0.012213	0	0
C3orf17	25871	broad.mit.edu	37	3	112724627	112724627	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:112724627C>A	ENST00000314400.5	-	9	1651	c.1460G>T	c.(1459-1461)tGg>tTg	p.W487L	C3orf17_ENST00000393857.2_Missense_Mutation_p.W351L|C3orf17_ENST00000383675.2_Missense_Mutation_p.W417L	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	487						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TGAGAGTCTCCACTTAGCACT	0.443000													62	104					1.64573e-32	2.16032e-32	0.003610	1	0
C17orf104	284071	broad.mit.edu	37	17	42744416	42744416	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:42744416G>C	ENST00000409122.2	+	5	1279	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H	C17orf104_ENST00000409464.1_Missense_Mutation_p.Q213H|C17orf104_ENST00000359945.3_Missense_Mutation_p.Q379H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	379										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CAGCGAATCAGAAAAAAATGG	0.408000													3	44					0	0	0.004672	0	0
PCDH17	27253	broad.mit.edu	37	13	58208112	58208112	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:58208112G>T	ENST00000377918.3	+	1	1458	c.1432G>T	c.(1432-1434)Gtg>Ttg	p.V478L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	478	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGGCTCTACGTGCTTCAGGT	0.602000													36	33					4.11147e-13	4.61674e-13	0.003755	1	0
THOC2	57187	broad.mit.edu	37	X	122830595	122830595	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:122830595G>A	ENST00000245838.8	-	6	474	c.443C>T	c.(442-444)tCa>tTa	p.S148L	THOC2_ENST00000491737.1_Missense_Mutation_p.S33L|THOC2_ENST00000355725.4_Missense_Mutation_p.S148L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	148					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GATTTTAACTGACTTTTGATT	0.348000													14	84					0	0	0.001855	0	0
OR11H6	122748	broad.mit.edu	37	14	20692590	20692590	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:20692590G>T	ENST00000315519.2	+	1	800	c.722G>T	c.(721-723)aGa>aTa	p.R241I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGTCATCAGAGCTGTGCTT	0.473000													47	59					4.18559e-23	5.14639e-23	0.003610	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21928252	21928252	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:21928252C>A	ENST00000542643.2	-	22	1957	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.G611V|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.G590V|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.G526V|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.G557V	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	526					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGAGACGTGCCCGCTGTCTGG	0.667000													23	29					6.21321e-17	7.27477e-17	0.002780	1	0
NKX6-2	84504	broad.mit.edu	37	10	134598651	134598651	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:134598651G>T	ENST00000368592.5	-	3	706	c.603C>A	c.(601-603)acC>acA	p.T201T		NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN	NK6 homeobox 2	201						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TGCGCCACTTGGTCCGGCGGT	0.741000													19	29					3.8784e-16	4.50707e-16	0.012319	1	0
OR10C1	442194	broad.mit.edu	37	6	29408052	29408052	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:29408052G>T	ENST00000444197.2	+	1	970	c.260G>T	c.(259-261)gGc>gTc	p.G87V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCCTTACTGGCCGGCGCCAC	0.587000													78	141					9.25274e-37	1.23547e-36	0.003610	1	0
GCNT4	51301	broad.mit.edu	37	5	74324704	74324704	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:74324704G>C	ENST00000322348.4	-	1	2020	c.1159C>G	c.(1159-1161)Ctt>Gtt	p.L387V		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	387					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ACGCTTCGAAGGTGAGATCCA	0.423000													74	107					0	0	0.003610	0	0
SLC5A10	125206	broad.mit.edu	37	17	18862054	18862054	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:18862054G>A	ENST00000395647.2	+	2	212	c.171G>A	c.(169-171)atG>atA	p.M57I	SLC5A10_ENST00000417251.2_Missense_Mutation_p.M57I|SLC5A10_ENST00000317977.6_Start_Codon_SNP_p.M1I|SLC5A10_ENST00000395643.2_Missense_Mutation_p.M57I|SLC5A10_ENST00000395645.3_Missense_Mutation_p.M57I|SLC5A10_ENST00000395642.1_Start_Codon_SNP_p.M1I	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	57					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCCGGGACATGACGTGGTGGC	0.577000													43	88					0	0	0.003610	0	0
RPUSD3	285367	broad.mit.edu	37	3	9885279	9885279	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:9885279C>G	ENST00000383820.5	-	2	133	c.132G>C	c.(130-132)caG>caC	p.Q44H	RPUSD3_ENST00000485705.1_5'UTR|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_Missense_Mutation_p.Q12H|RPUSD3_ENST00000433535.2_Missense_Mutation_p.Q44H	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	44					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					GGGGTTGCCTCTGATGCCTGG	0.637000													7	56					0	0	0.001984	0	0
ESPNL	339768	broad.mit.edu	37	2	239016612	239016612	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:239016612G>C	ENST00000343063.3	+	4	1116	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	ESPNL_ENST00000409169.1_Missense_Mutation_p.E285Q	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	285										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGGCAGATGGAGGTAAGGTG	0.612000													5	47					0	0	0.001168	0	0
ZNF212	7988	broad.mit.edu	37	7	148950880	148950880	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:148950880C>G	ENST00000335870.2	+	5	990	c.862C>G	c.(862-864)Ccg>Gcg	p.P288A		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGTGGGCTGCCCGAAGCAGAA	0.547000													53	101					0	0	0.003610	0	0
ACOT7	11332	broad.mit.edu	37	1	6324725	6324725	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:6324725C>T	ENST00000361521.4	-	9	2036	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	ACOT7_ENST00000377855.2_Missense_Mutation_p.E359K|ACOT7_ENST00000545482.1_Missense_Mutation_p.E244K|ACOT7_ENST00000377842.3_Missense_Mutation_p.E308K|ACOT7_ENST00000377845.3_Missense_Mutation_p.E329K	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	359						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TTGCCTTCCTCAAAGCGCTTC	0.622000													8	52					0	0	0.006214	0	0
FAT4	79633	broad.mit.edu	37	4	126238974	126238974	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:126238974G>A	ENST00000394329.3	+	1	1421	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	470	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACATCAATGACCATCCTCC	0.552000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	73					0	0	0.000602	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445616	10445616	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:10445616C>A	ENST00000326756.3	-	3	2775	c.2337G>T	c.(2335-2337)agG>agT	p.R779S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AATTAAGAACCCTCAACACAG	0.468000													67	104					2.50483e-33	3.30665e-33	0.003610	1	0
GABRA2	2555	broad.mit.edu	37	4	46388188	46388188	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:46388188G>T	ENST00000507460.1	-	3	422	c.90C>A	c.(88-90)atC>atA	p.I30I	GABRA2_ENST00000514090.1_Silent_p.I30I|GABRA2_ENST00000381620.4_Silent_p.I30I|GABRA2_ENST00000515082.1_Silent_p.I30I|GABRA2_ENST00000356504.1_Silent_p.I30I|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000507069.1_Silent_p.I30I|GABRA2_ENST00000510861.1_Silent_p.I30I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	30					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCTTCTTGGATGTTAGCCA	0.358000													20	49					3.62473e-10	3.9932e-10	0.012319	1	0
KRT13	3860	broad.mit.edu	37	17	39661387	39661387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:39661387C>T	ENST00000246635.3	-	1	462	c.416G>A	c.(415-417)tGg>tAg	p.W139*	KRT13_ENST00000587544.1_Nonsense_Mutation_p.W139*|KRT13_ENST00000336861.3_Nonsense_Mutation_p.W139*	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	139	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CTTCAGGTGCCAGTCACGGAT	0.607000													78	49					0	0	0.003610	0	0
REG1A	5967	broad.mit.edu	37	2	79349128	79349128	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:79349128C>A	ENST00000233735.1	+	4	301	c.198C>A	c.(196-198)aaC>aaA	p.N66K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	66	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATTGCCAGAACATGAATTCGG	0.512000													96	137					9.24413e-38	1.24143e-37	0.003610	1	0
LAX1	54900	broad.mit.edu	37	1	203743051	203743051	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:203743051G>A	ENST00000442561.2	+	5	829	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	LAX1_ENST00000367217.5_Missense_Mutation_p.A131T|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	147					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCACATCCATGCCACAGAGTA	0.537000													59	134					0	0	0.003610	0	0
AKR1C1	1645	broad.mit.edu	37	10	5008225	5008225	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:5008225G>C	ENST00000380872.4	+	2	396	c.204G>C	c.(202-204)aaG>aaC	p.K68N	AKR1C1_ENST00000380859.1_Missense_Mutation_p.K70N|AKR1C1_ENST00000434459.2_Missense_Mutation_p.K68N|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						TCCGAAGCAAGATTGCAGATG	0.433000													68	91					0	0	0.003610	0	0
CDC23	8697	broad.mit.edu	37	5	137548748	137548748	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:137548748C>A	ENST00000394886.2	-	2	196	c.166G>T	c.(166-168)Gcg>Tcg	p.A56S	CDC23_ENST00000394884.3_Missense_Mutation_p.A56S|CDC23_ENST00000505120.1_Missense_Mutation_p.A56S	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCAACTCCGCCGACCTGGAA	0.572000													127	166					1.14977e-51	1.58989e-51	0.003610	1	0
MYO1H	283446	broad.mit.edu	37	12	109862602	109862602	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:109862602C>A	ENST00000310903.5	+	17	1752	c.1646C>A	c.(1645-1647)gCc>gAc	p.A549D	MYO1H_ENST00000431443.2_Missense_Mutation_p.A559D			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTCCTGCTGGCCGAGTTAGAA	0.493000													21	33					1.87028e-06	1.97631e-06	0.012319	1	0
SLC4A3	6508	broad.mit.edu	37	2	220504391	220504391	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:220504391G>T	ENST00000358055.3	+	20	3723	c.3211G>T	c.(3211-3213)Gac>Tac	p.D1071Y	SLC4A3_ENST00000373762.3_Missense_Mutation_p.D1098Y|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D1071Y|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D1098Y|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D1071Y			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1071	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGCCTGGTGACAAGCCCCA	0.657000													33	48					3.11337e-16	3.62708e-16	0.002836	1	0
SLC18A2	6571	broad.mit.edu	37	10	119003718	119003718	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:119003718G>A	ENST00000298472.5	+	3	501	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	120					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGTCCCAGTGAAGACAAAGA	0.527000													9	125					0	0	0.004482	0	0
KMT2A	4297	broad.mit.edu	37	11	118375477	118375477	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:118375477A>G	ENST00000534358.1	+	27	8893	c.8870A>G	c.(8869-8871)gAc>gGc	p.D2957G	KMT2A_ENST00000389506.5_Missense_Mutation_p.D2954G|KMT2A_ENST00000354520.4_Missense_Mutation_p.D2916G	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTTATCTCAGACTCAGGGGAG	0.517000													66	105					0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322930	61322930	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:61322930G>T	ENST00000283752.5	-	8	1277	c.1134C>A	c.(1132-1134)acC>acA	p.T378T	SERPINB3_ENST00000332821.8_Silent_p.T326T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	378					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGATGCTGTTGGTCTTATTTT	0.423000													96	232					9.79205e-48	1.34209e-47	0.003610	1	0
CLIP4	79745	broad.mit.edu	37	2	29368120	29368120	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:29368120G>A	ENST00000320081.5	+	8	1163	c.908G>A	c.(907-909)gGa>gAa	p.G303E	CLIP4_ENST00000401605.1_Missense_Mutation_p.G303E|CLIP4_ENST00000401617.2_Missense_Mutation_p.G196E|CLIP4_ENST00000404424.1_Missense_Mutation_p.G303E	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	303	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGATTTTGTGGAACAACTGAA	0.358000													5	81					0	0	0.000602	0	0
SNRPD1	6632	broad.mit.edu	37	18	19209061	19209061	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:19209061C>T	ENST00000300413.4	+	4	485	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	SNRPD1_ENST00000582475.1_Missense_Mutation_p.R64C|SNRPD1_ENST00000579618.1_3'UTR	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa	108	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding			lung(2)|prostate(1)	3						aggaagaggacgtggccgtgg	0.448000													38	165					0	0	0.003755	0	0
SOX5	6660	broad.mit.edu	37	12	24048791	24048791	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:24048791G>T	ENST00000546136.1	-	1	169	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	SOX5_ENST00000545921.1_Missense_Mutation_p.P59Q|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000451604.2_Missense_Mutation_p.P69Q|SOX5_ENST00000381381.2_Missense_Mutation_p.P56Q|SOX5_ENST00000541847.1_Missense_Mutation_p.P59Q|SOX5_ENST00000309359.1_Missense_Mutation_p.P56Q|SOX5_ENST00000541536.1_Missense_Mutation_p.P56Q|SOX5_ENST00000537393.1_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	69					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAGAGAAACTGGCTGAAATTC	0.488000													197	304					1.86886e-111	2.65516e-111	0.003610	1	0
XRCC6	2547	broad.mit.edu	37	22	42057418	42057418	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:42057418C>T	ENST00000359308.4	+	11	2261	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S	XRCC6_ENST00000428575.2_Missense_Mutation_p.P403S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P536S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P536S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P495S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P486S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	536					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGATTACAATCCTGAAGGGAA	0.403000								Non-homologous end-joining					26	218					0	0	0.005443	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887564	26887564	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:26887564C>T	ENST00000374168.2	+	16	1524	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S365L|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S466L|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S365L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S446L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S441L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	457	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CGGGATCCTTCAGAAGAGATT	0.547000													12	117					0	0	0.001855	0	0
OR4C12	283093	broad.mit.edu	37	11	50003317	50003317	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:50003317G>C	ENST00000335238.4	-	1	754	c.721C>G	c.(721-723)Cac>Gac	p.H241D		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTATGATGTGAGAAATACAG	0.403000													4	98					0	0	0.009096	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761752	13761752	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:13761752A>T	ENST00000279593.3	-	9	2004	c.1795T>A	c.(1795-1797)Tct>Act	p.S599T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	599					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGTGAAAGAGGGTCCACCA	0.502000													40	75					0	0	0.008740	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879207	53879207	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:53879207T>A	ENST00000267079.2	-	6	1000	c.775A>T	c.(775-777)Aag>Tag	p.K259*	MAP3K12_ENST00000547035.1_Nonsense_Mutation_p.K292*|MAP3K12_ENST00000547488.1_Nonsense_Mutation_p.K292*	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	259	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTCAGCTCCTTGGAAGTGCCA	0.532000													191	300					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9057032	9057032	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:9057032G>A	ENST00000397910.4	-	3	30617	c.30414C>T	c.(30412-30414)tcC>tcT	p.S10138S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10140	Ser-rich.|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						TTTCAGCCATGGAAGAGGGAG	0.458000													37	23					0	0	0.004289	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													4	50					0	0	0.001168	0	0
PTX4	390667	broad.mit.edu	37	16	1537824	1537824	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:1537824C>A	ENST00000447419.2	-	2	314	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	PTX4_ENST00000440447.2_Missense_Mutation_p.V97L|PTX4_ENST00000293922.1_Missense_Mutation_p.V92L			Q96A99	PTX4_HUMAN	pentraxin 4, long	97						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCCCCCTGCACCGAGGCCTGT	0.662000													85	247					5.95195e-44	8.08633e-44	0.003610	1	0
CREBZF	58487	broad.mit.edu	37	11	85375271	85375271	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:85375271C>T	ENST00000527447.1	-	1	875	c.649G>A	c.(649-651)Gct>Act	p.A217T	CREBZF_ENST00000398294.2_Missense_Mutation_p.A135T|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	217					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGGCGGgcagcggccgccgcc	0.657000											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	147					0	0	0.004007	0	0
C6orf165	154313	broad.mit.edu	37	6	88144689	88144689	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:88144689G>A	ENST00000507897.1	+	11	1495	c.1412G>A	c.(1411-1413)aGa>aAa	p.R471K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.R471K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	471										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACATAGTTAGAGAAAAGGCC	0.274000													10	78					0	0	0.006214	0	0
MTUS2	23281	broad.mit.edu	37	13	29600969	29600969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:29600969G>T	ENST00000431530.3	+	1	2222	c.2164G>T	c.(2164-2166)Gga>Tga	p.G722*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	712	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTTCAGTTCCGGATTGATGGT	0.483000													44	64					1.22674e-20	1.4658e-20	0.008740	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856185	62856185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:62856185G>T	ENST00000584306.1	-	11	4609	c.4079C>A	c.(4078-4080)tCa>tAa	p.S1360*	LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.S478*|LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.S1360*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.S398*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.S337*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1360						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTAAGGATGAAAAAGCCCC	0.403000													14	251					4.36969e-10	4.79124e-10	0.001855	1	0
NOD2	64127	broad.mit.edu	37	16	50745221	50745221	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:50745221G>A	ENST00000300589.2	+	4	1504	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	467	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGGGTGGCGGACCGCCTCAT	0.592000													9	200					0	0	0.004482	0	0
CACNG5	27091	broad.mit.edu	37	17	64880787	64880787	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:64880787C>A	ENST00000169565.3	+	4	579	c.579C>A	c.(577-579)ccC>ccA	p.P193P	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	196				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGGTAAAGCCCGTCACCCTAA	0.562000													74	88					5.96624e-29	7.61718e-29	0.003610	1	0
CDH8	1006	broad.mit.edu	37	16	61823353	61823353	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:61823353C>T	ENST00000577390.1	-	8	2265	c.1311G>A	c.(1309-1311)agG>agA	p.R437R	CDH8_ENST00000584337.1_Silent_p.R437R|CDH8_ENST00000299345.6_Silent_p.R437R|CDH8_ENST00000577730.1_Silent_p.R437R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	437	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGTTGAACTGCCTCTCCAGGT	0.418000													58	80					0	0	0.003610	0	0
DGKG	1608	broad.mit.edu	37	3	185906046	185906046	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:185906046G>T	ENST00000265022.3	-	22	2579	c.2040C>A	c.(2038-2040)atC>atA	p.I680I	DGKG_ENST00000382164.4_Silent_p.I641I|DGKG_ENST00000544847.1_Silent_p.I621I|DGKG_ENST00000344484.4_Silent_p.I655I	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	680					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGCTTTCCCGGATCACAGCCC	0.488000													97	159					1.14904e-54	1.5936e-54	0.003610	1	0
UBE2NL	389898	broad.mit.edu	37	X	142967263	142967263	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:142967263C>T	ENST00000370494.1	+	1	91	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	21							acid-amino acid ligase activity	p.P21A(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAGTTCCTGGCATCAA	0.512000													9	117					0	0	0.004482	0	0
VSX1	30813	broad.mit.edu	37	20	25059381	25059381	+	Silent	SNP	A	A	T	rs56157240	by1000genomes	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:25059381A>T	ENST00000376707.3	-	3	745	c.711T>A	c.(709-711)ccT>ccA	p.P237P	VSX1_ENST00000376709.4_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000451258.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GCTATAGAGAAGGGACTGCTG	0.512000													7	214					0	0	0.001984	0	0
ZNF732	654254	broad.mit.edu	37	4	265812	265812	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:265812G>T	ENST00000419098.1	-	4	844	c.834C>A	c.(832-834)ttC>ttA	p.F278L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CTTCACATGTGAAGGGTTTCT	0.378000													12	30					2.27111e-07	2.4163e-07	0.001368	1	0
DIS3L2	129563	broad.mit.edu	37	2	232952246	232952246	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:232952246C>T	ENST00000325385.7	+	6	692	c.416C>T	c.(415-417)tCa>tTa	p.S139L	DIS3L2_ENST00000409401.3_Missense_Mutation_p.S139L|DIS3L2_ENST00000409307.1_Missense_Mutation_p.S139L|DIS3L2_ENST00000360410.4_Missense_Mutation_p.S139L|DIS3L2_ENST00000273009.6_Missense_Mutation_p.S139L|DIS3L2_ENST00000470087.1_3'UTR	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	139							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCGTATGAATCAGATATCCCC	0.418000													8	100					0	0	0.003080	0	0
SAFB2	9667	broad.mit.edu	37	19	5604655	5604655	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:5604655C>G	ENST00000252542.4	-	11	1762	c.1498G>C	c.(1498-1500)Gtg>Ctg	p.V500L	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	500	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCTTCTTCACTTCGCACTCT	0.408000													7	57					0	0	0.001984	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215665	140215665	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140215665T>A	ENST00000525929.1	+	1	1697	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L566Q	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCACTGCTGGCGCCTCGG	0.687000													101	158					0	0	0.003610	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118892538	118892538	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:118892538G>A	ENST00000533632.1	+	4	887	c.523G>A	c.(523-525)Gag>Aag	p.E175K	TRAPPC4_ENST00000434101.2_Missense_Mutation_p.E121K|TRAPPC4_ENST00000359005.4_Intron|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.E132K|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.E175K|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.E82K|TRAPPC4_ENST00000526141.1_3'UTR	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	175					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAAGATTTATGAGATTTACTC	0.438000													19	168					0	0	0.007413	0	0
CYCS	54205	broad.mit.edu	37	7	25163619	25163619	+	Silent	SNP	C	C	T	rs11548812		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:25163619C>T	ENST00000305786.2	-	2	289	c.120G>A	c.(118-120)aaG>aaA	p.K40K	CYCS_ENST00000409764.1_Silent_p.K40K|CYCS_ENST00000409409.1_Silent_p.K40K	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	40					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	CCTGACCTGTCTTCCGCCCAA	0.443000													51	76					0	0	0.003610	0	0
RBP3	5949	broad.mit.edu	37	10	48388286	48388286	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:48388286C>A	ENST00000224600.4	-	1	2705	c.2592G>T	c.(2590-2592)cgG>cgT	p.R864R		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	864	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			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)	TGACCGTGGCCCGCTGCAGGT	0.642000													14	40					3.27435e-08	3.51578e-08	0.002450	1	0
GLDC	2731	broad.mit.edu	37	9	6620264	6620264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:6620264C>T	ENST00000321612.6	-	3	540	c.390G>A	c.(388-390)tgG>tgA	p.W130*		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	130					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TATACGATCTCCAGATCTGGT	0.403000													4	77					0	0	0.009096	0	0
SMYD5	10322	broad.mit.edu	37	2	73451084	73451084	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:73451084A>G	ENST00000389501.4	+	10	938	c.893A>G	c.(892-894)gAg>gGg	p.E298G		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	298	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCAACTGGAGAGTTTCTTAAC	0.493000													116	186					0	0	0.003610	0	0
WSCD2	9671	broad.mit.edu	37	12	108604015	108604015	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:108604015C>A	ENST00000332082.4	+	5	1433	c.615C>A	c.(613-615)agC>agA	p.S205R	WSCD2_ENST00000547525.1_Missense_Mutation_p.S205R|WSCD2_ENST00000549903.1_Missense_Mutation_p.S205R|WSCD2_ENST00000261400.3_Missense_Mutation_p.S205R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	205	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCGAGGCAGCGTGTGCGGCG	0.682000													22	23					4.35082e-09	4.71507e-09	0.010504	1	0
POM121C	100101267	broad.mit.edu	37	7	75051137	75051137	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:75051137C>A	ENST00000453279.2	-	13	3262	c.2398G>T	c.(2398-2400)Gtc>Ttc	p.V800F	POM121C_ENST00000257665.5_Missense_Mutation_p.V1042F	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1042	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AAGGAGAAGACAGCAGTGGAG	0.657000													16	131					3.51602e-12	3.91041e-12	0.008871	1	0
AEBP1	165	broad.mit.edu	37	7	44151804	44151804	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:44151804G>A	ENST00000223357.3	+	17	2406	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N	AEBP1_ENST00000450684.2_Missense_Mutation_p.D276N	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	701	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CATCTTTGAAGATTTCCCGGA	0.582000													13	122					0	0	0.003163	0	0
GRM8	2918	broad.mit.edu	37	7	126544084	126544084	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:126544084C>A	ENST00000339582.2	-	5	1768	c.960G>T	c.(958-960)caG>caT	p.Q320H	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.Q320H|GRM8_ENST00000405249.1_Missense_Mutation_p.Q320H|GRM8_ENST00000444921.2_Missense_Mutation_p.Q320H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	320					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCCTCTTGCTGATAGACAG	0.418000										HNSCC(24;0.065)			82	136					2.179e-33	2.8847e-33	0.003610	1	0
OTUD7A	161725	broad.mit.edu	37	15	31819488	31819488	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:31819488C>T	ENST00000382902.1	-	5	768	c.676G>A	c.(676-678)Gac>Aac	p.D226N	OTUD7A_ENST00000307050.4_Missense_Mutation_p.D226N			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	226	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AACACCAGGTCCCGGTCGTGA	0.557000													36	185					0	0	0.004878	0	0
MIA3	375056	broad.mit.edu	37	1	222805617	222805617	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:222805617C>G	ENST00000344922.5	+	5	3305	c.3280C>G	c.(3280-3282)Cat>Gat	p.H1094D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.H1094D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1094					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGGGACACTCATGCCTCAGA	0.443000													19	250					0	0	0.002299	0	0
FAM135A	57579	broad.mit.edu	37	6	71242879	71242879	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:71242879C>T	ENST00000418814.2	+	17	4406	c.3792C>T	c.(3790-3792)ctC>ctT	p.L1264L	FAM135A_ENST00000505769.1_Silent_p.L844L|FAM135A_ENST00000457062.2_Silent_p.L1051L|FAM135A_ENST00000370479.3_Silent_p.L1051L|FAM135A_ENST00000361499.3_Silent_p.L1068L|FAM135A_ENST00000505868.1_Silent_p.L1264L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1264										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GTGCAGATCTCCGATTAGTAA	0.323000													5	39					0	0	0.000602	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360363	72360363	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:72360363A>G	ENST00000001146.2	-	5	1138	c.935T>C	c.(934-936)cTg>cCg	p.L312P	CYP26B1_ENST00000546307.1_Missense_Mutation_p.L237P|CYP26B1_ENST00000412253.1_Missense_Mutation_p.L121P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	312					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTGCTTCAGCAGCTGCATGAT	0.652000													19	32					0	0	0.007413	0	0
TMEM107	84314	broad.mit.edu	37	17	8079142	8079142	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:8079142G>A	ENST00000532998.1	-	3	275	c.189C>T	c.(187-189)ctC>ctT	p.L63L	TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000437139.2_Silent_p.L63L|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000533070.1_Silent_p.L69L|TMEM107_ENST00000316425.5_Silent_p.L69L			Q6UX40	TM107_HUMAN	transmembrane protein 107	63						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						CCACTGCAAAGAGGCCCAGGG	0.597000													10	169					0	0	0.008291	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200508	72200508	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:72200508G>C	ENST00000555818.1	+	19	5398	c.5050G>C	c.(5050-5052)Gat>Cat	p.D1684H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1138H|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1663H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1663H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1684					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAACCTGGTAGATGCTGCCAA	0.587000													5	95					0	0	0.000602	0	0
ZHX2	22882	broad.mit.edu	37	8	123963987	123963987	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:123963987G>T	ENST00000314393.4	+	3	1072	c.237G>T	c.(235-237)gaG>gaT	p.E79D		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	79						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGTTATGAGTGCAAATACT	0.483000													49	79					4.01344e-20	4.78328e-20	0.003610	1	0
EMP2	2013	broad.mit.edu	37	16	10626919	10626919	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:10626919T>A	ENST00000359543.3	-	5	556	c.347A>T	c.(346-348)tAt>tTt	p.Y116F	EMP2_ENST00000536829.1_Missense_Mutation_p.Y116F	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	116					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCTGTCTGTATAAATGGAGGC	0.512000													63	135					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52336233	52336233	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:52336233G>A	ENST00000356297.4	-	14	1797	c.1697C>T	c.(1696-1698)aCt>aTt	p.T566I	PXDNL_ENST00000543296.1_Missense_Mutation_p.T566I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	566	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTCGTAGATAGTCAGCGTGCC	0.483000													27	54					0	0	0.003954	0	0
TFIP11	24144	broad.mit.edu	37	22	26895073	26895073	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr22:26895073G>A	ENST00000407690.1	-	9	1609	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	TFIP11_ENST00000405938.1_Silent_p.L442L|TFIP11_ENST00000407148.1_Silent_p.L442L|TFIP11_ENST00000407431.1_Silent_p.L442L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	442					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AACTCACTTTGAGGGGATCCC	0.537000													7	190					0	0	0.003080	0	0
KRT23	25984	broad.mit.edu	37	17	39092802	39092802	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:39092802G>A	ENST00000209718.3	-	2	478	c.54C>T	c.(52-54)gcC>gcT	p.A18A	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	18	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AGCCACCTCCGGCGCCATGGA	0.692000													41	112					0	0	0.006999	0	0
MACF1	23499	broad.mit.edu	37	1	39919444	39919444	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:39919444C>T	ENST00000564288.1	+	88	21585	c.20808C>T	c.(20806-20808)gtC>gtT	p.V6936V	MACF1_ENST00000372915.3_Silent_p.V6835V|MACF1_ENST00000289893.4_Silent_p.V5379V|MACF1_ENST00000545844.1_Silent_p.V4877V|MACF1_ENST00000539005.1_Silent_p.V4747V|MACF1_ENST00000361689.2_Silent_p.V4877V|MACF1_ENST00000567887.1_Silent_p.V6973V|MACF1_ENST00000317713.7_Silent_p.V4877V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6835					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGAGAAGTCATCCTGGCTG	0.458000													18	418					0	0	0.006122	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702381	27702381	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:27702381G>T	ENST00000438700.3	-	1	916	c.799C>A	c.(799-801)Ccg>Acg	p.P267T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	267					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TACAGGATCGGGTTGGGGGGC	0.647000													39	55					9.62906e-15	1.10794e-14	0.006230	1	0
EIF4G3	8672	broad.mit.edu	37	1	21306897	21306897	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:21306897A>T	ENST00000602326.1	-	8	859	c.276T>A	c.(274-276)taT>taA	p.Y92*	EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.Y92*|EIF4G3_ENST00000374927.4_Nonsense_Mutation_p.Y85*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.Y85*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.Y85*|EIF4G3_ENST00000356916.3_Nonsense_Mutation_p.Y96*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.Y85*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	85					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTTGAACTGGATATTGTTGGG	0.453000													23	23					0	0	0.004656	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371197	131371197	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:131371197C>T	ENST00000372739.3	+	35	4646	c.4536C>T	c.(4534-4536)atC>atT	p.I1512I	SPTAN1_ENST00000372731.4_Silent_p.I1512I|SPTAN1_ENST00000358161.5_Silent_p.I1512I	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1512					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACCAGCTCATCGCTGCCGGCC	0.577000													21	490					0	0	0.012319	0	0
LILRA2	11027	broad.mit.edu	37	19	55086414	55086414	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:55086414G>C	ENST00000251377.3	+	5	702	c.569G>C	c.(568-570)aGg>aCg	p.R190T	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.R190T|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.R190T|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.R178T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCGAGTCGCAGGTGGTCGTAC	0.577000													119	75					0	0	0.003610	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612884	228612884	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:228612884G>T	ENST00000366696.1	-	1	142	c.143C>A	c.(142-144)gCg>gAg	p.A48E		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	48					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CTCGCGAAGCGCCACCGTGCC	0.657000													158	130					5.54423e-67	7.80547e-67	0.003610	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33561210	33561210	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:33561210C>A	ENST00000504830.1	-	20	4382	c.4047G>T	c.(4045-4047)gcG>gcT	p.A1349A	ADAMTS12_ENST00000352040.3_Silent_p.A1264A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1349	TSP type-1 5.				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						TCTGGATGGCCGCACAGTCAG	0.572000										HNSCC(64;0.19)			79	103					3.86735e-44	5.26954e-44	0.003610	1	0
CDH20	28316	broad.mit.edu	37	18	59195350	59195350	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:59195350G>C	ENST00000262717.4	+	7	1566	c.1168G>C	c.(1168-1170)Gaa>Caa	p.E390Q	CDH20_ENST00000538374.1_Missense_Mutation_p.E390Q|CDH20_ENST00000536675.2_Missense_Mutation_p.E390Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	390	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCCTGTGTTTGAACCTGGCTT	0.493000													13	344					0	0	0.001368	0	0
ARID1A	8289	broad.mit.edu	37	1	27105682	27105682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:27105682G>T	ENST00000324856.7	+	20	5664	c.5293G>T	c.(5293-5295)Gaa>Taa	p.E1765*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1548*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1382*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E93*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1765					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGGGAAGAAGAAGAAGAACT	0.493000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								80	123					1.36236e-49	1.87275e-49	0.003610	1	0
DNAH11	8701	broad.mit.edu	37	7	21744058	21744058	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:21744058A>G	ENST00000328843.6	+	39	6332	c.6301A>G	c.(6301-6303)Atg>Gtg	p.M2101V	DNAH11_ENST00000409508.3_Missense_Mutation_p.M2094V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2101					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTAGGTACTCATGAGAGCATT	0.388000									Kartagener syndrome				23	39					0	0	0.002780	0	0
TREM1	54210	broad.mit.edu	37	6	41243937	41243937	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:41243937C>A	ENST00000244709.4	-	4	694	c.631G>T	c.(631-633)Gct>Tct	p.A211S	TREM1_ENST00000589614.1_Intron|TREM1_ENST00000334475.6_Missense_Mutation_p.W146C	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	211					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	AATCCACCAGCCAGGAGAATG	0.542000													37	57					3.76114e-14	4.31697e-14	0.004289	1	0
FAM3B	54097	broad.mit.edu	37	21	42719025	42719025	+	Silent	SNP	A	A	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:42719025A>C	ENST00000398652.3	+	7	666	c.600A>C	c.(598-600)acA>acC	p.T200T	FAM3B_ENST00000398647.3_Silent_p.T113T|FAM3B_ENST00000398646.3_Silent_p.T184T|FAM3B_ENST00000357985.2_Silent_p.T161T|FAM3B_ENST00000479810.2_3'UTR			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	161					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				ACGGAAGCACAAGGTGAGTGG	0.542000													59	126					0	0	0.003610	0	0
FLAD1	80308	broad.mit.edu	37	1	154960559	154960559	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:154960559C>G	ENST00000368431.3	+	3	874	c.54C>G	c.(52-54)ctC>ctG	p.L18L	FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000405236.2_Silent_p.L18L	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGATGGCCTCATCTTCCCCT	0.567000													12	360					0	0	0.003163	0	0
CAT	847	broad.mit.edu	37	11	34492577	34492577	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:34492577G>A	ENST00000241052.4	+	12	1596	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	503					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GTACAATGCTGAGAAGCCTAA	0.512000													92	154					0	0	0.003610	0	0
MACF1	23499	broad.mit.edu	37	1	39782166	39782166	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:39782166C>T	ENST00000564288.1	+	28	4330	c.3553C>T	c.(3553-3555)Ctc>Ttc	p.L1185F	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.L1190F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1190F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1190F|MACF1_ENST00000361689.2_Missense_Mutation_p.L1190F|MACF1_ENST00000567887.1_Missense_Mutation_p.L1222F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1190F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1190					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTGGCAGATCTCTCAGCTCT	0.433000													87	157					0	0	0.003610	0	0
ATP2C1	27032	broad.mit.edu	37	3	130683838	130683838	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:130683838G>C	ENST00000510168.1	+	14	1621	c.1071G>C	c.(1069-1071)aaG>aaC	p.K357N	ATP2C1_ENST00000508532.1_Missense_Mutation_p.K357N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.K341N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.K357N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.K341N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.K302N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.K357N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.K391N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.K357N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.K357N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.K341N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.K352N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.K341N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	357					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CACTGACGAAGAATGAAATGA	0.328000									Hailey-Hailey disease				38	70					0	0	0.007835	0	0
SULF2	55959	broad.mit.edu	37	20	46386098	46386098	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:46386098G>A	ENST00000359930.4	-	2	861	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	SULF2_ENST00000361612.4_Missense_Mutation_p.P4S|SULF2_ENST00000484875.1_Missense_Mutation_p.P4S|SULF2_ENST00000467815.1_Missense_Mutation_p.P4S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	4					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)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACGAGGCTCGGGGGGCCCATC	0.562000													6	7					0	0	0.001984	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321336	79321336	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:79321336C>T	ENST00000428286.1	-	8	5977	c.4777G>A	c.(4777-4779)Gaa>Aaa	p.E1593K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1952K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1952					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTAGGTGTTTCAGGAGTCAGC	0.463000													10	187					0	0	0.008291	0	0
PLB1	151056	broad.mit.edu	37	2	28761185	28761185	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:28761185G>C	ENST00000422425.2	+	10	632	c.588G>C	c.(586-588)caG>caC	p.Q196H	PLB1_ENST00000327757.5_Splice_Site	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	185	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCTCTCACAGAATGGGCTTG	0.652000													17	39					0	0	0.006320	0	0
CDH10	1008	broad.mit.edu	37	5	24488006	24488006	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:24488006C>A	ENST00000264463.4	-	12	2640	c.2133G>T	c.(2131-2133)cgG>cgT	p.R711R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	711					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAATGAAATCCCGGACGTCCG	0.468000										HNSCC(23;0.051)			78	122					1.76847e-28	2.23942e-28	0.003610	1	0
OLFM3	118427	broad.mit.edu	37	1	102269863	102269863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:102269863C>T	ENST00000370103.4	-	6	1521	c.1308G>A	c.(1306-1308)tgG>tgA	p.W436*	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Nonsense_Mutation_p.W456*|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	456	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGCCATTGTTCCAGGCATAGA	0.413000													8	167					0	0	0.004482	0	0
ELF2	1998	broad.mit.edu	37	4	140005302	140005302	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:140005302G>A	ENST00000358635.3	-	1	348	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	ELF2_ENST00000394235.2_Intron|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000510408.1_Silent_p.L15L|ELF2_ENST00000379550.1_Intron|ELF2_ENST00000379549.2_Silent_p.L15L	NM_006874.2	NP_006865.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	0					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CGAATGAGCAGATCCAGCTGG	0.612000													27	126					0	0	0.003610	0	0
UNKL	64718	broad.mit.edu	37	16	1453189	1453189	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:1453189C>A	ENST00000389221.4	-	3	443	c.444G>T	c.(442-444)cgG>cgT	p.R148R	UNKL_ENST00000508903.2_Silent_p.R148R|UNKL_ENST00000397462.1_Silent_p.R235R|UNKL_ENST00000301712.5_Silent_p.R148R|UNKL_ENST00000503648.1_5'UTR	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	148						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				ACACGGGCGGCCGCAGGTCCA	0.637000													18	42					3.32936e-07	3.52609e-07	0.006122	1	0
SLC16A6	9120	broad.mit.edu	37	17	66270079	66270079	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:66270079C>A	ENST00000327268.4	-	4	529	c.365G>T	c.(364-366)gGc>gTc	p.G122V	SLC16A6_ENST00000580666.1_Missense_Mutation_p.G122V|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	122						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAGATGATGCCGATGGCGAC	0.493000													47	71					1.86633e-21	2.25314e-21	0.003610	1	0
VWA9	81556	broad.mit.edu	37	15	65871944	65871944	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:65871944C>T	ENST00000395644.4	-	12	1694	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	VWA9_ENST00000569491.1_Silent_p.L403L|VWA9_ENST00000420799.2_Silent_p.L396L|VWA9_ENST00000313182.2_Silent_p.L453L|VWA9_ENST00000442903.3_Silent_p.L417L|VWA9_ENST00000567744.1_Silent_p.L489L|VWA9_ENST00000431261.2_Silent_p.L374L					von Willebrand factor A domain containing 9																		CCACCCCTTTCAGCAGGTCCA	0.537000													15	100					0	0	0.002450	0	0
MGA	23269	broad.mit.edu	37	15	41988856	41988856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:41988856C>T	ENST00000219905.7	+	3	1829	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*	MGA_ENST00000566586.1_Nonsense_Mutation_p.Q550*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q550*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q550*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q550*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	550						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAAGAGCCTCAGTGGAAATA	0.403000													36	35					0	0	0.003755	0	0
RP1L1	94137	broad.mit.edu	37	8	10470341	10470341	+	Silent	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:10470341G>T	ENST00000382483.3	-	4	1490	c.1267C>A	c.(1267-1269)Cgg>Agg	p.R423R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	423					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACCTCTTCCGAGCTGCCACT	0.667000													6	117					3.59834e-05	3.74291e-05	0.001168	1	0
CREBBP	1387	broad.mit.edu	37	16	3786117	3786117	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:3786117C>T	ENST00000262367.5	-	28	5457	c.4648G>A	c.(4648-4650)Gaa>Aaa	p.E1550K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1512K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1550	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGCTCTCTTCTAACACATTG	0.463000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	243					0	0	0.004482	0	0
DBNDD1	79007	broad.mit.edu	37	16	90072838	90072838	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:90072838C>G	ENST00000392973.3	-	3	1131	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E148Q|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E128Q|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E248Q			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	128						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGGCTCTGCTCAGCCCTTGTC	0.672000													5	50					0	0	0.000602	0	0
CACNA1B	774	broad.mit.edu	37	9	141015235	141015235	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:141015235G>C	ENST00000277549.5	+	46	6542	c.3973G>C	c.(3973-3975)Gac>Cac	p.D1325H	CACNA1B_ENST00000277551.2_Missense_Mutation_p.D2131H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D2130H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D2132H|CACNA1B_ENST00000371372.1_Missense_Mutation_p.D2131H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D2129H			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2131					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTACTCCTGCGACCGCTTTGG	0.716000													5	3					0	0	0.000602	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887581	26887581	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:26887581C>T	ENST00000374168.2	+	16	1541	c.1387C>T	c.(1387-1389)Ctt>Ttt	p.L463F	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.L371F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.L472F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.L371F|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.L452F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.L447F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	463	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GATTGAGATTCTTCTGCGGTA	0.522000													13	111					0	0	0.001368	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190823	42190823	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:42190823T>G	ENST00000006724.3	-	2	595	c.394A>C	c.(394-396)Aat>Cat	p.N132H	CEACAM7_ENST00000338196.4_Missense_Mutation_p.N132H|CEACAM7_ENST00000602225.1_Missense_Mutation_p.N132H|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N132H	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	132	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACTTCTTCATTCACAAGATTT	0.453000													102	143					0	0	0.003610	0	0
MED23	9439	broad.mit.edu	37	6	131927641	131927641	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:131927641G>A	ENST00000403834.3	-	13	1536	c.1363C>T	c.(1363-1365)Cat>Tat	p.H455Y	MED23_ENST00000368060.3_Missense_Mutation_p.H449Y|MED23_ENST00000539158.1_Missense_Mutation_p.H449Y|MED23_ENST00000545957.1_Missense_Mutation_p.H90Y|MED23_ENST00000354577.4_Missense_Mutation_p.H455Y|MED23_ENST00000368058.1_Missense_Mutation_p.H455Y|MED23_ENST00000540546.1_Missense_Mutation_p.H455Y|MED23_ENST00000368068.3_Missense_Mutation_p.H449Y|MED23_ENST00000368053.4_Missense_Mutation_p.H455Y			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	449					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTTAGGGAATGAGGTATTGGA	0.368000													4	69					0	0	0.009096	0	0
IL17RD	54756	broad.mit.edu	37	3	57136547	57136547	+	Silent	SNP	G	G	A	rs151221314	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:57136547G>A	ENST00000296318.7	-	10	1027	c.939C>T	c.(937-939)ttC>ttT	p.F313F	IL17RD_ENST00000320057.5_Silent_p.F169F|IL17RD_ENST00000463523.1_Silent_p.F169F|IL17RD_ENST00000427856.2_Silent_p.F289F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	313						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AGAGCGTCGCGAATGCCGATA	0.557000													9	107					0	0	0.006214	0	0
HLCS	3141	broad.mit.edu	37	21	38126640	38126640	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:38126640C>A	ENST00000399120.1	-	12	3318	c.2088G>T	c.(2086-2088)caG>caT	p.Q696H	HLCS_ENST00000336648.3_Missense_Mutation_p.Q696H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	696					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGTGAACCTGGAGGAAGC	0.597000													18	36					8.28177e-16	9.57644e-16	0.007413	1	0
OR4S2	219431	broad.mit.edu	37	11	55419048	55419048	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:55419048G>A	ENST00000312422.2	+	1	669	c.669G>A	c.(667-669)ctG>ctA	p.L223L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TAGTTTCCCTGAGAAAGCAGT	0.483000													11	303					0	0	0.008291	0	0
CNNM1	26507	broad.mit.edu	37	10	101090472	101090472	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:101090472G>T	ENST00000356713.4	+	1	1617	c.1328G>T	c.(1327-1329)cGc>cTc	p.R443L	CNNM1_ENST00000370534.4_Missense_Mutation_p.R78L|CNNM1_ENST00000370528.3_Missense_Mutation_p.R372L|CNNM1_ENST00000446890.1_Missense_Mutation_p.R372L	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	443	CBS 1.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTCATGCTGCGCTCAGACGCG	0.612000													48	50					9.57592e-29	1.21591e-28	0.003610	1	0
TRBV25-1	28562	broad.mit.edu	37	7	142379051	142379051	+	RNA	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:142379051C>T	ENST00000390398.3	+	0	356																											ACATACCTCTCAGTACCTCTG	0.517000													21	129					0	0	0.008871	0	0
CDH17	1015	broad.mit.edu	37	8	95164106	95164106	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:95164106G>T	ENST00000027335.3	-	13	1910	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	CDH17_ENST00000450165.2_Missense_Mutation_p.L596M|CDH17_ENST00000441892.2_Missense_Mutation_p.L382M	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	596	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTATGTCCAGACCTTCTGGA	0.547000													46	113					4.44712e-29	5.69329e-29	0.003610	1	0
ZNF592	9640	broad.mit.edu	37	15	85326329	85326329	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:85326329C>A	ENST00000299927.3	+	1	445	c.423C>A	c.(421-423)ttC>ttA	p.F141L	ZNF592_ENST00000560079.2_Missense_Mutation_p.F141L			Q92610	ZN592_HUMAN	zinc finger protein 592	141					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F141L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAACCAGTTCAGTCCAATCT	0.483000													41	342					1.57019e-19	1.86661e-19	0.007835	1	0
OR10G7	390265	broad.mit.edu	37	11	123908901	123908901	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:123908901C>A	ENST00000330487.5	-	1	816	c.808G>T	c.(808-810)Gtt>Ttt	p.V270F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACGGCCACAACCCCATGCAAG	0.507000													54	89					1.11015e-26	1.38694e-26	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	113662525	113662525	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:113662525G>T	ENST00000297405.5	-	19	3302	c.3058C>A	c.(3058-3060)Cgt>Agt	p.R1020S	CSMD3_ENST00000352409.3_Missense_Mutation_p.R1020S|CSMD3_ENST00000455883.2_Missense_Mutation_p.R916S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R980S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1020	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATAGCGACGGCCATGTACA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			80	128					5.71386e-39	7.69555e-39	0.003610	1	0
ZNF578	147660	broad.mit.edu	37	19	53013909	53013909	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:53013909G>C	ENST00000421239.2	+	6	519	c.275G>C	c.(274-276)aGa>aCa	p.R92T		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTTGCAAAGACATGAAAGT	0.373000													23	223					0	0	0.012319	0	0
OXER1	165140	broad.mit.edu	37	2	42990430	42990430	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:42990430A>G	ENST00000378661.2	-	1	971	c.890T>C	c.(889-891)cTg>cCg	p.L297P		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	297					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CACCATGGCCAGCACACGCAT	0.622000													15	18					0	0	0.002450	0	0
BSG	682	broad.mit.edu	37	19	572652	572652	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:572652C>T	ENST00000333511.3	+	1	88	c.18C>T	c.(16-18)ttC>ttT	p.F6F	BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Silent_p.F6F|BSG_ENST00000545507.2_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	6					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCGCTGTTCGTGCTGCTGG	0.716000													6	0					0	0	0.001984	0	0
MYBL2	4605	broad.mit.edu	37	20	42331447	42331447	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:42331447C>T	ENST00000217026.4	+	8	1396	c.1269C>T	c.(1267-1269)gtC>gtT	p.V423V	MYBL2_ENST00000396863.4_Silent_p.V399V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGTCCCCTGTCACTGAGAATA	0.612000													11	110					0	0	0.010729	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1895113	1895113	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:1895113C>A	ENST00000357103.4	+	8	1287	c.1036C>A	c.(1036-1038)Cac>Aac	p.H346N		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	346					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CCTCCAGTTTCACTCTCATCA	0.438000													23	529					5.35047e-06	5.64099e-06	0.003330	1	0
ANKHD1	54882	broad.mit.edu	37	5	139903719	139903719	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:139903719G>C	ENST00000297183.6	+	25	4510	c.4386G>C	c.(4384-4386)aaG>aaC	p.K1462N	ANKHD1_ENST00000360839.2_Missense_Mutation_p.K1462N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.K1462N	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.K1462K(2)		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)			agagaaaaaagaaaaaagagg	0.358000													14	29					0	0	0.001855	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902839	24902839	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:24902839C>G	ENST00000313367.2	-	9	1301	c.850G>C	c.(850-852)Gat>Cat	p.D284H	OSBPL3_ENST00000353930.1_Missense_Mutation_p.D284H|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D284H|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000352860.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	284					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCTTTAGCATCTTTGCCAATA	0.493000													64	91					0	0	0.003610	0	0
STPG1	90529	broad.mit.edu	37	1	24687417	24687417	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:24687417G>A	ENST00000374409.1	-	8	1106	c.852C>T	c.(850-852)ttC>ttT	p.F284F	STPG1_ENST00000337248.4_Silent_p.F284F|STPG1_ENST00000003583.8_Silent_p.F237F|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.F237F|GRHL3_ENST00000350501.5_Intron	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		CACTAGAGATGAAATGCTTGC	0.562000													19	149					0	0	0.007413	0	0
CDH7	1005	broad.mit.edu	37	18	63547748	63547748	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:63547748G>T	ENST00000397968.2	+	12	2402	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	CDH7_ENST00000323011.3_Missense_Mutation_p.G659V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGGGCGGGGGAGAGGAGGAC	0.478000													42	96					6.21074e-16	7.19952e-16	0.011902	1	0
PCM1	5108	broad.mit.edu	37	8	17820799	17820799	+	Splice_Site	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:17820799A>T	ENST00000325083.8	+	17	3092	c.2654_splice	c.e17+1	p.K885_splice	PCM1_ENST00000524226.1_Splice_Site_p.K886_splice|PCM1_ENST00000519253.1_Splice_Site_p.K885_splice	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	885					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TAGAACAGAAAAGTAAGAGAG	0.448000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								10	81					0	0	0.008291	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229516	90229516	+	RNA	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:90229516G>T	ENST00000390278.2	+	0	356																											ACTGTAAACAGGACTTCAGTT	0.502000													46	84					9.9998e-32	1.3053e-31	0.011902	1	0
NKG7	4818	broad.mit.edu	37	19	51875207	51875207	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:51875207G>T	ENST00000595217.1	-	2	572	c.407C>A	c.(406-408)tCt>tAt	p.S136Y	NKG7_ENST00000600427.1_Intron|NKG7_ENST00000221978.5_Silent_p.L142L			Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	0						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TACAGAGCAAGAGGATAGCTG	0.612000													10	156					1.11149e-13	1.2633e-13	0.008291	1	0
FADS3	3995	broad.mit.edu	37	11	61641287	61641287	+	Nonstop_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:61641287C>A	ENST00000278829.2	-	12	1489	c.1337G>T	c.(1336-1338)tGa>tTa	p.*446L	FADS3_ENST00000525588.1_Nonstop_Mutation_p.*418L|FADS3_ENST00000527697.1_Nonstop_Mutation_p.*331L|FADS3_ENST00000540820.1_3'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	0					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGTTGCCTTCACTGATGGAG	0.647000													7	19					2.7689e-08	2.97992e-08	0.001984	1	0
HS3ST6	64711	broad.mit.edu	37	16	1961911	1961911	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:1961911G>A	ENST00000454677.2	-	2	825	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	HS3ST6_ENST00000293937.3_Missense_Mutation_p.R237C|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R206C			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	206										endometrium(2)|lung(2)	4						GGGAAGTAGCGCAGCCAGTGG	0.711000													8	175					0	0	0.004482	0	0
CACNG5	27091	broad.mit.edu	37	17	64880786	64880786	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:64880786C>A	ENST00000169565.3	+	4	578	c.578C>A	c.(577-579)cCc>cAc	p.P193H	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	196				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAGGTAAAGCCCGTCACCCTA	0.557000													73	88					6.72169e-28	8.48864e-28	0.003610	1	0
RFX7	64864	broad.mit.edu	37	15	56387666	56387666	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:56387666G>A	ENST00000423270.1	-	9	2259	c.2260C>T	c.(2260-2262)Cca>Tca	p.P754S	RFX7_ENST00000559447.2_Missense_Mutation_p.P657S|RFX7_ENST00000317318.6_Missense_Mutation_p.P754S|RFX7_ENST00000422057.1_Missense_Mutation_p.P657S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	657					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTTATATCTGGAGATGATGAT	0.393000													45	84					0	0	0.011902	0	0
UTP20	27340	broad.mit.edu	37	12	101705831	101705831	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:101705831G>A	ENST00000261637.4	+	21	2503	c.2329G>A	c.(2329-2331)Gat>Aat	p.D777N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	777					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTACAGAATGATATGACAGA	0.398000													8	170					0	0	0.004482	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292829	102292829	+	RNA	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:102292829C>G	ENST00000561463.1	+	0	875																		p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000													3	56					0	0	0.001168	0	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:10822872G>T	ENST00000250237.5	+	6	692	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617000													64	41					6.2918e-36	8.37708e-36	0.003610	1	0
THBS2	7058	broad.mit.edu	37	6	169628232	169628232	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:169628232C>G	ENST00000366787.3	-	16	2653	c.2404G>C	c.(2404-2406)Gac>Cac	p.D802H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	802					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATCAATGTCCACGGAGCAG	0.532000													5	45					0	0	0.000602	0	0
ZNF443	10224	broad.mit.edu	37	19	12542639	12542639	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:12542639G>A	ENST00000301547.5	-	4	544	c.347C>T	c.(346-348)tCa>tTa	p.S116L	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	116					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATTAAGGGATGAATGACCCAT	0.438000													5	91					0	0	0.001168	0	0
SLA	6503	broad.mit.edu	37	8	134072428	134072428	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:134072428G>T	ENST00000395352.3	-	2	377	c.29C>A	c.(28-30)gCg>gAg	p.A10E	SLA_ENST00000524345.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.A33E|SLA_ENST00000338087.5_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.A10E|TG_ENST00000220616.4_Intron	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCCTGGGGCCGCTGGTGATGC	0.577000													50	59					1.00776e-21	1.21978e-21	0.003610	1	0
PIGT	51604	broad.mit.edu	37	20	44048215	44048215	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:44048215C>T	ENST00000279036.6	+	5	746	c.666C>T	c.(664-666)atC>atT	p.I222I	PIGT_ENST00000543458.2_Silent_p.I166I|PIGT_ENST00000535404.1_Silent_p.I67I|PIGT_ENST00000279035.9_Silent_p.I120I|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000372689.5_Silent_p.I222I|PIGT_ENST00000545755.1_5'UTR	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	222					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CAGTGCATATCCGCCCTGTTT	0.547000													8	245					0	0	0.003080	0	0
PADI1	29943	broad.mit.edu	37	1	17550155	17550155	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:17550155C>G	ENST00000375471.4	+	3	405	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	105					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGACCAAGCTCTGGGCCGCAG	0.587000													4	95					0	0	0.000602	0	0
NPHP4	261734	broad.mit.edu	37	1	5935129	5935129	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:5935129C>T	ENST00000378156.4	-	21	3114	c.2849G>A	c.(2848-2850)cGg>cAg	p.R950Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	950					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTAGGTCCCGCAAGTGCTG	0.657000													19	30					0	0	0.008871	0	0
ELF2	1998	broad.mit.edu	37	4	140005289	140005289	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:140005289G>A	ENST00000358635.3	-	1	361	c.56C>T	c.(55-57)gCc>gTc	p.A19V	ELF2_ENST00000394235.2_Intron|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.A19V|ELF2_ENST00000379550.1_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.A19V	NM_006874.2	NP_006865.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	79					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTCCTTACCGGCCCGAATGAG	0.607000													28	116					0	0	0.003610	0	0
ZNF592	9640	broad.mit.edu	37	15	85327622	85327622	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:85327622C>T	ENST00000299927.3	+	1	1738	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	ZNF592_ENST00000560079.2_Silent_p.L572L			Q92610	ZN592_HUMAN	zinc finger protein 592	572					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGCCAAATCTCAGCCCGCCTG	0.597000													24	254					0	0	0.003954	0	0
C19orf40	91442	broad.mit.edu	37	19	33465037	33465037	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:33465037G>C	ENST00000588258.1	+	4	425	c.315G>C	c.(313-315)caG>caC	p.Q105H	C19orf40_ENST00000589646.1_Missense_Mutation_p.Q10H|C19orf40_ENST00000590281.1_Missense_Mutation_p.Q105H|C19orf40_ENST00000590179.1_Missense_Mutation_p.Q10H	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	105					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					CAGCCCTACAGAAGTTTACTG	0.453000								Direct reversal of damage					6	109					0	0	0.001168	0	0
MED27	9442	broad.mit.edu	37	9	134769325	134769325	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:134769325C>G	ENST00000292035.5	-	5	691	c.628G>C	c.(628-630)Gat>Cat	p.D210H	MED27_ENST00000357028.2_Intron|MED27_ENST00000372184.3_Intron	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	210					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		ATTGTTCGATCAATGAACAGG	0.443000													4	116					0	0	0.000602	0	0
SKOR1	390598	broad.mit.edu	37	15	68119197	68119197	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:68119197C>T	ENST00000380035.2	+	2	1089	c.1031C>T	c.(1030-1032)cCg>cTg	p.P344L	SKOR1_ENST00000554240.1_Missense_Mutation_p.P305L|SKOR1_ENST00000554054.1_Missense_Mutation_p.P316L|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000389002.1_Missense_Mutation_p.P300L			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	344					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCACCCCACCCGCAGCGCGGA	0.751000													4	5					0	0	0.009096	0	0
CASQ1	844	broad.mit.edu	37	1	160160688	160160688	+	Silent	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:160160688G>C	ENST00000368079.3	+	1	404	c.129G>C	c.(127-129)gtG>gtC	p.V43V	CASQ1_ENST00000368078.3_Silent_p.V49V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	49						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGACCGTGTGATCAATGTCA	0.542000													17	185					0	0	0.004990	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702698	26702698	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:26702698G>T	ENST00000396005.3	-	12	1688	c.1379C>A	c.(1378-1380)cCt>cAt	p.P460H		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	460					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGCTGGTGCAGGGTAAATGAA	0.473000													26	34					9.57634e-11	1.05748e-10	0.003330	1	0
BAGE2	85319	broad.mit.edu	37	21	11098857	11098857	+	RNA	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:11098857C>A	ENST00000470054.1	-	0	68									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caggctccagcctccaactcc	0.622000													26	58					6.32553e-13	7.06882e-13	0.004656	1	0
NRP2	8828	broad.mit.edu	37	2	206608091	206608091	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:206608091G>C	ENST00000360409.3	+	9	2247	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	NRP2_ENST00000272849.3_Missense_Mutation_p.E486Q|NRP2_ENST00000417189.1_Missense_Mutation_p.E486Q|NRP2_ENST00000540178.1_Missense_Mutation_p.E486Q|NRP2_ENST00000357785.5_Missense_Mutation_p.E486Q|NRP2_ENST00000355117.4_Missense_Mutation_p.E486Q|NRP2_ENST00000540841.1_Missense_Mutation_p.E486Q|NRP2_ENST00000412873.2_Missense_Mutation_p.E486Q|NRP2_ENST00000357118.4_Missense_Mutation_p.E486Q	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	486	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCCCGGTGAGGAGTGGCTTCA	0.617000													14	163					0	0	0.004007	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475158	140475158	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140475158C>A	ENST00000194155.4	+	1	932	c.784C>A	c.(784-786)Cag>Aag	p.Q262K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		262	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGATCCCAGGTTGCCAT	0.483000													45	81					2.45108e-15	2.82723e-15	0.008740	1	0
HS3ST5	222537	broad.mit.edu	37	6	114378736	114378736	+	Silent	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:114378736C>T	ENST00000312719.5	-	5	1914	c.726G>A	c.(724-726)ttG>ttA	p.L242L	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L242L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	242					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GAAAGTATTTCAACCACCTTT	0.443000													9	192					0	0	0.004482	0	0
OR14K1	343170	broad.mit.edu	37	1	247902005	247902005	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:247902005C>T	ENST00000283225.2	+	1	89	c.89C>T	c.(88-90)tCa>tTa	p.S30L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTGCTCTTCTCACTGATCTAC	0.433000													70	156					0	0	0.003610	0	0
ATP5SL	55101	broad.mit.edu	37	19	41938222	41938222	+	Missense_Mutation	SNP	C	C	T	rs2231943	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:41938222C>T	ENST00000221943.9	-	6	693	c.688G>A	c.(688-690)Gag>Aag	p.E230K	ATP5SL_ENST00000438807.3_Silent_p.A148A|ATP5SL_ENST00000417807.3_Missense_Mutation_p.E236K|ATP5SL_ENST00000301183.11_Silent_p.A181A|ATP5SL_ENST00000592922.2_Missense_Mutation_p.E203K|ATP5SL_ENST00000589970.1_Silent_p.A175A	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	230			E -> K (in dbSNP:rs2231943).							breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CCCACAACCTCGCAATTGGGC	0.627000													51	111					0	0	0.003610	0	0
C8A	731	broad.mit.edu	37	1	57372339	57372339	+	Splice_Site	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:57372339G>T	ENST00000361249.3	+	8	1192		c.e8-1			NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCCTGTTGCAGGTATTACCAG	0.403000													113	168					2.96273e-59	4.14604e-59	0.003610	1	0
THSD4	79875	broad.mit.edu	37	15	72030138	72030138	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:72030138G>C	ENST00000355327.3	+	11	1832	c.1698G>C	c.(1696-1698)agG>agC	p.R566S	THSD4_ENST00000261862.6_Missense_Mutation_p.R566S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R206S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	566						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGAAAGGGAGGAACGAGGAGA	0.567000													37	51					0	0	0.004289	0	0
ADCY4	196883	broad.mit.edu	37	14	24787633	24787633	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:24787633T>G	ENST00000310677.4	-	26	3336	c.3223A>C	c.(3223-3225)Acc>Ccc	p.T1075P	ADCY4_ENST00000554068.2_Missense_Mutation_p.T1075P|ADCY4_ENST00000418030.2_Missense_Mutation_p.T1075P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1075					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGCCTAGGGTAGCTGAAGGA	0.527000													32	52					0	0	0.009535	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785270	26785270	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:26785270A>T	ENST00000376236.4	+	4	565	c.110A>T	c.(109-111)aAt>aTt	p.N37I	APBB1IP_ENST00000356785.4_Missense_Mutation_p.N37I	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	37					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCTGACCCTAATCCACCCAGA	0.353000													54	97					0	0	0.003610	0	0
TNNC2	7125	broad.mit.edu	37	20	44452748	44452748	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:44452748G>C	ENST00000372557.1	-	6	495	c.288C>G	c.(286-288)atC>atG	p.I96M	TNNC2_ENST00000372555.3_Missense_Mutation_p.I111M			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	111	EF-hand 3.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CCTCCGGGTCGATGTAGCCGT	0.642000													12	256					0	0	0.001368	0	0
DMKN	93099	broad.mit.edu	37	19	36002370	36002370	+	Silent	SNP	A	A	G	rs142091185	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:36002370A>G	ENST00000339686.3	-	5	1037	c.861T>C	c.(859-861)ggT>ggC	p.G287G	DMKN_ENST00000419602.1_Intron|DMKN_ENST00000447113.2_Silent_p.G287G|DMKN_ENST00000451297.2_Silent_p.G287G|DMKN_ENST00000424570.2_Silent_p.G287G|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000440396.1_Silent_p.G287G|DMKN_ENST00000418261.1_Silent_p.G287G	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	287	Gly-rich.					extracellular region		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			cactgctgccaccactgctgc	0.632000													4	18					0	0	0.003080	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377496	138377496	+	Silent	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:138377496A>T	ENST00000356818.2	+	4	1689	c.1140A>T	c.(1138-1140)acA>acT	p.T380T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.T380T|PPP1R26_ENST00000604351.1_Silent_p.T380T|PPP1R26_ENST00000605286.1_Silent_p.T380T|PPP1R26_ENST00000401470.3_Silent_p.T380T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	380						nucleolus	protein binding										TGCAGAAAACACGCAAGGAGG	0.627000													53	100					0	0	0.003610	0	0
EIF3K	27335	broad.mit.edu	37	19	39116723	39116723	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:39116723G>T	ENST00000545173.2	+	4	411	c.335G>T	c.(334-336)tGc>tTc	p.C112F	EIF3K_ENST00000592558.1_Missense_Mutation_p.C112F|EIF3K_ENST00000588934.1_Missense_Mutation_p.C112F|EIF3K_ENST00000593149.1_Missense_Mutation_p.C25F|EIF3K_ENST00000538434.1_Missense_Mutation_p.C25F|EIF3K_ENST00000248342.4_Missense_Mutation_p.C112F|EIF3K_ENST00000593062.1_3'UTR			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	112					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGAGACCTGCCATTTCCAG	0.567000													106	144					2.96245e-57	4.13323e-57	0.003610	1	0
ALG10B	144245	broad.mit.edu	37	12	38714293	38714293	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:38714293C>G	ENST00000308742.4	+	3	1016	c.700C>G	c.(700-702)Ctt>Gtt	p.L234V	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	234					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.L234I(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAGAAAAATTCTTCAGTTTCT	0.373000													33	298					0	0	0.003755	0	0
TATDN2	9797	broad.mit.edu	37	3	10291093	10291093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:10291093C>T	ENST00000287652.4	+	2	1260	c.209C>T	c.(208-210)tCc>tTc	p.S70F	TATDN2_ENST00000448281.2_Missense_Mutation_p.S70F|RP11-438J1.1_ENST00000450534.1_Missense_Mutation_p.S13F	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	70						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGGAGGTTATCCTGGGGCTCA	0.642000													35	266					0	0	0.012213	0	0
DOCK10	55619	broad.mit.edu	37	2	225721621	225721621	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:225721621C>G	ENST00000409592.3	-	15	1859	c.1746G>C	c.(1744-1746)aaG>aaC	p.K582N	DOCK10_ENST00000258390.7_Missense_Mutation_p.K588N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	588							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGTTGAAATCTTGCTACTTT	0.303000													10	57					0	0	0.006214	0	0
CRNKL1	51340	broad.mit.edu	37	20	20023130	20023130	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:20023130C>G	ENST00000377340.2	-	9	1517	c.1486G>C	c.(1486-1488)Gat>Cat	p.D496H	CRNKL1_ENST00000377327.4_Missense_Mutation_p.D484H|CRNKL1_ENST00000536226.1_Missense_Mutation_p.D335H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	496					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CGCAAGTAATCAAACCATGCA	0.443000													18	236					0	0	0.006122	0	0
PAK1	5058	broad.mit.edu	37	11	77070063	77070063	+	Splice_Site	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:77070063C>G	ENST00000356341.3	-	6	1009		c.e6-1		PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000530617.1_Splice_Site	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCTTCACATTCTGTGCAAAGA	0.493000													5	102					0	0	0.000602	0	0
IGHG1	3500	broad.mit.edu	37	14	106208719	106208719	+	RNA	SNP	G	G	T	rs1126488		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:106208719G>T	ENST00000390548.2	-	0	298																											ACAAGATTTGGGCTCTGCAGA	0.587000													119	207					6.83383e-50	9.42179e-50	0.003610	1	0
MFF	56947	broad.mit.edu	37	2	228220473	228220473	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:228220473G>A	ENST00000353339.3	+	10	1334	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	MFF_ENST00000392059.1_Missense_Mutation_p.R298Q|MFF_ENST00000354503.6_Missense_Mutation_p.R174Q|MFF_ENST00000349901.7_Missense_Mutation_p.R194Q|MFF_ENST00000337110.7_Missense_Mutation_p.R199Q|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_Missense_Mutation_p.R45Q|MFF_ENST00000304593.9_Missense_Mutation_p.R247Q|MFF_ENST00000409616.1_Missense_Mutation_p.R194Q|MFF_ENST00000409565.1_Missense_Mutation_p.R174Q	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	298						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TCACTAAGACGACAGGTATTT	0.328000													10	301					0	0	0.010729	0	0
ITPR2	3709	broad.mit.edu	37	12	26835601	26835601	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:26835601G>C	ENST00000381340.3	-	12	1570	c.1154C>G	c.(1153-1155)tCa>tGa	p.S385*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	385	MIR 5.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCGAACATATGAGTTCCTAAA	0.299000													6	137					0	0	0.001168	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458981	45458981	+	RNA	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:45458981C>A	ENST00000548424.1	+	0	448																											TTGTATTTCCCCAGCTCATAG	0.433000													26	38					3.28513e-13	3.69775e-13	0.003954	1	0
DPY19L2	283417	broad.mit.edu	37	12	64062106	64062106	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:64062106C>A	ENST00000324472.4	-	1	251	c.68G>T	c.(67-69)cGc>cTc	p.R23L	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	23					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGAGGCCCCGCGCCGCCCCTT	0.622000													39	59					6.04917e-29	7.70195e-29	0.006999	1	0
AKT2	208	broad.mit.edu	37	19	40761077	40761077	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:40761077G>A	ENST00000392038.2	-	4	573	c.275C>T	c.(274-276)tCt>tTt	p.S92F	AKT2_ENST00000579047.1_Missense_Mutation_p.S30F|AKT2_ENST00000311278.6_Missense_Mutation_p.S92F|AKT2_ENST00000424901.1_Missense_Mutation_p.S92F	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	92	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTCGTCTGGAGAATCCACGTG	0.577000			A		"""ovarian, pancreatic """								15	189					0	0	0.002450	0	0
OR2A25	392138	broad.mit.edu	37	7	143771564	143771564	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:143771564C>A	ENST00000408898.2	+	1	290	c.252C>A	c.(250-252)ctC>ctA	p.L84L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGTGAACCTCCTGCATCCAG	0.547000													12	172					1.5842e-08	1.70888e-08	0.001855	1	0
BUB1B	701	broad.mit.edu	37	15	40504704	40504704	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:40504704C>G	ENST00000287598.6	+	19	2585	c.2390C>G	c.(2389-2391)tCt>tGt	p.S797C	BUB1B_ENST00000412359.3_Missense_Mutation_p.S811C	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	797	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTACAGGTATCTTCTCAACCT	0.348000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				13	93					0	0	0.002450	0	0
ZNF263	10127	broad.mit.edu	37	16	3339518	3339518	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:3339518C>G	ENST00000219069.5	+	6	1888	c.1012C>G	c.(1012-1014)Cat>Gat	p.H338D	ZNF263_ENST00000574253.1_Silent_p.L171L|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGGAAGACCTCATGACCGGTC	0.632000													8	221					0	0	0.003080	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341796	179341796	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:179341796G>A	ENST00000493866.1	+	4	407	c.382G>A	c.(382-384)Gat>Aat	p.D128N	NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.D168N|NDUFB5_ENST00000259037.3_Missense_Mutation_p.D180N	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	180					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GGAACTTATTGATCATTCTCC	0.333000													8	186					0	0	0.006214	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051274	147051274	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:147051274G>A	ENST00000265272.5	-	2	563	c.96C>T	c.(94-96)gaC>gaT	p.D32D	JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Silent_p.D32D	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	32						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCTGAATGTCTGTGAGCT	0.532000													39	40					0	0	0.004878	0	0
TAF1L	138474	broad.mit.edu	37	9	32634692	32634692	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:32634692C>T	ENST00000242310.4	-	1	975	c.886G>A	c.(886-888)Gag>Aag	p.E296K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	296					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)		CATTCCACCTCCTGGATCTGC	0.502000													13	151					0	0	0.002450	0	0
COG3	83548	broad.mit.edu	37	13	46050481	46050481	+	Splice_Site	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:46050481A>G	ENST00000349995.5	+	2	432	c.321_splice	c.e2+1	p.Q107_splice		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	107				QQ -> HE (in Ref. 1; AAK66974).	ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ACCGCACAGCAGGTGAATTGC	0.373000													44	104					0	0	0.011902	0	0
WDR7	23335	broad.mit.edu	37	18	54629724	54629724	+	Silent	SNP	A	A	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr18:54629724A>T	ENST00000254442.3	+	26	4339	c.4128A>T	c.(4126-4128)tcA>tcT	p.S1376S	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1343S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1376										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCATGGTTCAGTGGCCCTGT	0.418000													34	67					0	0	0.004878	0	0
BRIP1	83990	broad.mit.edu	37	17	59853848	59853848	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:59853848C>G	ENST00000259008.2	-	14	2278	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	BRIP1_ENST00000577598.1_Missense_Mutation_p.E671Q|BRIP1_ENST00000583837.1_5'UTR	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	671					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.E671Q(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTTGGAACTCAAATGTTTCA	0.418000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					16	200					0	0	0.003163	0	0
URI1	8725	broad.mit.edu	37	19	30505953	30505953	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:30505953G>T	ENST00000392271.1	+	11	1882	c.1357G>T	c.(1357-1359)Gcc>Tcc	p.A453S	URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.A489S|URI1_ENST00000542441.2_Missense_Mutation_p.A529S	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	529					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GTTTAAAGCTGCCAGATTGCA	0.408000													54	113					1.21353e-23	1.50002e-23	0.003610	1	0
WDR70	55100	broad.mit.edu	37	5	37516683	37516683	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:37516683C>G	ENST00000265107.4	+	9	1064	c.908C>G	c.(907-909)tCa>tGa	p.S303*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.S303*|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	303										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGACTTGCTCAAATGATGCG	0.328000													5	86					0	0	0.000602	0	0
PPA1	5464	broad.mit.edu	37	10	71966081	71966081	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:71966081G>A	ENST00000373232.2	-	9	833	c.734C>T	c.(733-735)aCa>aTa	p.T245I		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	245					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						AGACAAAGTTGTATTCATGCT	0.343000													32	42					0	0	0.012213	0	0
C9orf72	203228	broad.mit.edu	37	9	27556654	27556654	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:27556654C>T	ENST00000380003.3	-	8	1059	c.996G>A	c.(994-996)atG>atA	p.M332I	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	332										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCTCGGATCTCATGTATCTAC	0.448000													79	47					0	0	0.003610	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366275	27366275	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:27366275G>C	ENST00000376087.4	-	9	1234	c.1069C>G	c.(1069-1071)Ctt>Gtt	p.L357V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L406V|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	357						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACCTTCATAAGACCAGGGTTT	0.393000													21	230					0	0	0.008871	0	0
SLITRK2	84631	broad.mit.edu	37	X	144903954	144903954	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:144903954G>A	ENST00000370490.1	+	1	4266	c.11G>A	c.(10-12)gGc>gAc	p.G4D	SLITRK2_ENST00000434188.2_Missense_Mutation_p.G4D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G4D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G4D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G4D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	4						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCTGAGCGGCGTTTGGTTC	0.532000													33	13					0	0	0.004289	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229517	90229517	+	RNA	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:90229517G>T	ENST00000390278.2	+	0	357																											CTGTAAACAGGACTTCAGTTA	0.502000													42	82					3.66854e-30	4.72249e-30	0.007835	1	0
ZNF716	441234	broad.mit.edu	37	7	57522864	57522864	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:57522864C>A	ENST00000420713.1	+	3	364	c.252C>A	c.(250-252)gcC>gcA	p.A84A		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGATGGTAGCCAAACACCCAG	0.443000													66	140					1.7104e-27	2.14837e-27	0.003610	1	0
CLGN	1047	broad.mit.edu	37	4	141334183	141334183	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:141334183A>G	ENST00000325617.5	-	2	490	c.50T>C	c.(49-51)aTt>aCt	p.I17T	CLGN_ENST00000537281.1_Missense_Mutation_p.I17T|CLGN_ENST00000414773.1_Missense_Mutation_p.I17T	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	17					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTCTGCATTAATTGAGATGAA	0.313000													53	66					0	0	0.003610	0	0
GFAP	2670	broad.mit.edu	37	17	42992602	42992602	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:42992602C>G	ENST00000253408.5	-	1	318	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.E85Q|GFAP_ENST00000435360.2_Missense_Mutation_p.E85Q	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	85	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGAACCTTCTCGATGTAGCTG	0.602000													51	37					0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	51255218	51255218	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:51255218C>T	ENST00000404971.1	-	2	1533	c.194G>A	c.(193-195)gGc>gAc	p.G65D	NRXN1_ENST00000401669.2_Missense_Mutation_p.G65D|NRXN1_ENST00000406859.3_Missense_Mutation_p.G65D|NRXN1_ENST00000405472.3_Missense_Mutation_p.G65D|NRXN1_ENST00000406316.2_Missense_Mutation_p.G65D|NRXN1_ENST00000402717.3_Missense_Mutation_p.G65D|NRXN1_ENST00000405581.1_Missense_Mutation_p.G65D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	65	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGCACGAGGCCGCGGGCGCT	0.652000													14	15					0	0	0.002450	0	0
DNAJA2	10294	broad.mit.edu	37	16	47005275	47005275	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:47005275C>G	ENST00000317089.5	-	3	563	c.348G>C	c.(346-348)atG>atC	p.M116I		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	116					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTGGATGCATCATGTCCTCTC	0.378000													17	168					0	0	0.004007	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395098	37395098	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:37395098C>T	ENST00000535679.1	-	7	891	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	SULT6B1_ENST00000379149.2_Missense_Mutation_p.E194K|SULT6B1_ENST00000260637.3_Missense_Mutation_p.E260K|SULT6B1_ENST00000407963.1_Missense_Mutation_p.E260K			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	298						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CAATATGATTCATACTTCAAC	0.333000													20	138					0	0	0.010504	0	0
PRDM10	56980	broad.mit.edu	37	11	129788547	129788547	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:129788547C>T	ENST00000358825.5	-	15	2344	c.2113G>A	c.(2113-2115)Gac>Aac	p.D705N	PRDM10_ENST00000360871.3_Missense_Mutation_p.D701N|PRDM10_ENST00000423662.2_Missense_Mutation_p.D619N|PRDM10_ENST00000528746.1_Missense_Mutation_p.D675N|PRDM10_ENST00000526082.1_Missense_Mutation_p.D619N|PRDM10_ENST00000304538.6_Missense_Mutation_p.D615N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTGATGCGGTCGGCTTTCTTG	0.537000													16	429					0	0	0.008871	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236976	26236976	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:26236976C>G	ENST00000354667.4	-	4	427	c.259G>C	c.(259-261)Gat>Cat	p.D87H	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.D75H	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	87	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACTCTCCCATCAATTGAATGA	0.448000			T	ETV1	prostate								31	304					0	0	0.010818	0	0
OR9K2	441639	broad.mit.edu	37	12	55524082	55524082	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:55524082G>T	ENST00000305377.5	+	1	618	c.530G>T	c.(529-531)gGc>gTc	p.G177V		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TATTTTTGTGGCTGCATTAGC	0.453000													95	136					4.66267e-56	6.48599e-56	0.003610	1	0
MEPE	56955	broad.mit.edu	37	4	88766663	88766663	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:88766663C>A	ENST00000497649.2	+	6	949	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	MEPE_ENST00000395102.4_Missense_Mutation_p.R246S|MEPE_ENST00000424957.3_Missense_Mutation_p.R215S|MEPE_ENST00000540395.1_Missense_Mutation_p.R102S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.R102S|MEPE_ENST00000361056.3_Missense_Mutation_p.R215S			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	215					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGCACCCATCGTATTCAACA	0.393000													63	116					1.53122e-18	1.81564e-18	0.003610	1	0
ARHGAP5	394	broad.mit.edu	37	14	32624010	32624010	+	Silent	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:32624010A>G	ENST00000345122.3	+	7	4680	c.4365A>G	c.(4363-4365)gtA>gtG	p.V1455V	ARHGAP5_ENST00000432921.1_Silent_p.V1454V|ARHGAP5_ENST00000433497.1_Silent_p.V194V|ARHGAP5_ENST00000556611.1_Silent_p.V1454V|ARHGAP5_ENST00000396582.2_Silent_p.V190V|ARHGAP5_ENST00000539826.2_Silent_p.V1455V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1455					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GAGAAATTGTAGAAACGACAA	0.428000													51	63					0	0	0.003610	0	0
RIPK1	8737	broad.mit.edu	37	6	3105914	3105914	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:3105914A>G	ENST00000259808.4	+	9	1503	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.N402S|RIPK1_ENST00000541791.1_Missense_Mutation_p.N356S			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	402	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCAGACAGAATGTGGCTTAC	0.502000													54	94					0	0	0.003610	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500158	220500158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:220500158G>T	ENST00000358055.3	+	13	2424	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.E665*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.E638*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.E665*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.E638*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	638					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCGGCGAGAGCGTGAACA	0.632000													18	50					6.94344e-10	7.59541e-10	0.006122	1	0
TRMT5	57570	broad.mit.edu	37	14	61447680	61447680	+	Splice_Site	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:61447680C>A	ENST00000261249.6	-	1	396		c.e1+1		RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CGCCACCTCACCAAAGCACCA	0.662000													24	59					7.87624e-14	8.99591e-14	0.002780	1	0
LRFN2	57497	broad.mit.edu	37	6	40359880	40359880	+	Missense_Mutation	SNP	G	G	T	rs144850104	byFrequency	TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr6:40359880G>T	ENST00000338305.6	-	3	2714	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	724						cell junction|integral to membrane|postsynaptic membrane		p.F724F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCATGTCGAAGGAGTGGC	0.692000													24	28					1.10923e-09	1.21054e-09	0.002780	1	0
GATA3	2625	broad.mit.edu	37	10	8115974	8115974	+	Silent	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:8115974C>A	ENST00000379328.3	+	6	1891	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.T440T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	440				A -> G (in Ref. 4; AAA35870).	aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCATGGTCACCGCCATGGGTT	0.622000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						31	79					1.75199e-13	1.98161e-13	0.007291	1	0
KCNT1	57582	broad.mit.edu	37	9	138657014	138657014	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr9:138657014C>A	ENST00000298480.5	+	12	1247	c.1173C>A	c.(1171-1173)aaC>aaA	p.N391K	KCNT1_ENST00000491806.2_Missense_Mutation_p.N358K|KCNT1_ENST00000488444.2_Missense_Mutation_p.N372K|KCNT1_ENST00000486577.2_Missense_Mutation_p.N352K|KCNT1_ENST00000490355.2_Missense_Mutation_p.N372K|KCNT1_ENST00000487664.1_Missense_Mutation_p.N346K|KCNT1_ENST00000263604.3_Missense_Mutation_p.N372K|KCNT1_ENST00000371757.2_Missense_Mutation_p.N391K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	391						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACTTCCTGAACGAGTTCTACG	0.642000													69	139					1.43675e-24	1.78541e-24	0.003610	1	0
LRP4	4038	broad.mit.edu	37	11	46880824	46880824	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:46880824C>A	ENST00000378623.1	-	38	5670	c.5428G>T	c.(5428-5430)Gta>Tta	p.V1810L	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1810					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.V1810I(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTCCCTCTACGATCTTGATC	0.547000													64	88					1.1794e-34	1.56582e-34	0.003610	1	0
DDX10	1662	broad.mit.edu	37	11	108550197	108550197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:108550197C>A	ENST00000526794.1	+	6	790	c.758C>A	c.(757-759)tCa>tAa	p.S253*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.S253*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	253	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTACTTTTCTCAGCAACACAA	0.383000			T	NUP98	AML*								14	246					2.31682e-05	2.42072e-05	0.003163	1	0
CLSPN	63967	broad.mit.edu	37	1	36228076	36228076	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:36228076C>T	ENST00000251195.5	-	5	847	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	CLSPN_ENST00000373220.3_Missense_Mutation_p.E251K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E251K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E251K			Q9HAW4	CLSPN_HUMAN	claspin	251					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGATGGTTCTTTTTTCTAA	0.398000													6	116					0	0	0.001984	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73169681	73169681	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:73169681C>G	ENST00000286657.4	-	17	2413	c.2377G>C	c.(2377-2379)Gaa>Caa	p.E793Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	793	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGACTTTCAATGTCATCT	0.398000													135	191					0	0	0.003610	0	0
CENPJ	55835	broad.mit.edu	37	13	25479865	25479865	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr13:25479865C>T	ENST00000381884.4	-	7	2496	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E771K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	771					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTATGCTTTCCATGATAGAC	0.408000													39	322					0	0	0.008740	0	0
KDM2A	22992	broad.mit.edu	37	11	67021879	67021879	+	Silent	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:67021879C>G	ENST00000529006.2	+	20	3743	c.3297C>G	c.(3295-3297)ctC>ctG	p.L1099L	KDM2A_ENST00000530342.1_Silent_p.L660L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L557L|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TCACAGAGCTCAATATGGCAG	0.537000													69	94					0	0	0.003610	0	0
TOP1	7150	broad.mit.edu	37	20	39750425	39750425	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:39750425G>A	ENST00000361337.2	+	19	2290	c.2040G>A	c.(2038-2040)acG>acA	p.T680T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	680					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ATGCAAAGACGAAGAAGTATG	0.502000			T	NUP98	AML*								8	283					0	0	0.003080	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176113	140176113	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:140176113C>T	ENST00000526136.1	+	1	1564	c.1564C>T	c.(1564-1566)Ccg>Tcg	p.P522S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P522S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P522S	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTGCAGCCGCTGGACCA	0.687000													114	160					0	0	0.003610	0	0
NUTM1	256646	broad.mit.edu	37	15	34649603	34649603	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:34649603C>A	ENST00000537011.1	+	8	3776	c.3394C>A	c.(3394-3396)Ctg>Atg	p.L1132M	NUTM1_ENST00000333756.4_Missense_Mutation_p.L1104M|NUTM1_ENST00000438749.3_Missense_Mutation_p.L1122M					NUT midline carcinoma, family member 1																		ACCCCTAGCTCTGGGAGTAGT	0.582000													61	92					6.60958e-23	8.10543e-23	0.003610	1	0
KDM2B	84678	broad.mit.edu	37	12	121881557	121881557	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:121881557G>A	ENST00000377071.4	-	17	2563	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.L199F	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	831					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCGGCGAGAGGTGAGAGGAG	0.627000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	79					0	0	0.010771	0	0
KCNV1	27012	broad.mit.edu	37	8	110986567	110986567	+	Silent	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:110986567G>A	ENST00000524391.1	-	2	1083	c.51C>T	c.(49-51)tcC>tcT	p.S17S	KCNV1_ENST00000297404.1_Silent_p.S17S|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	17						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGAGGTCAGGGAGCCGCTGT	0.677000													4	1					0	0	0.009096	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274192	10274192	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:10274192G>A	ENST00000396573.2	-	3	386	c.77C>T	c.(76-78)gCg>gTg	p.A26V	GRIN2A_ENST00000330684.3_Missense_Mutation_p.A26V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A26V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A26V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A26V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	26					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTCTCCGCCGCCGCGCTCGG	0.672000													69	55					0	0	0.003610	0	0
SCYL1	57410	broad.mit.edu	37	11	65293594	65293594	+	Splice_Site	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:65293594G>A	ENST00000524944.1	+	4	408		c.e4-1		SCYL1_ENST00000527009.1_Splice_Site|SCYL1_ENST00000525364.1_Splice_Site|SCYL1_ENST00000527630.1_Splice_Site|SCYL1_ENST00000279270.6_Splice_Site|SCYL1_ENST00000420247.2_Splice_Site|SCYL1_ENST00000270176.5_Splice_Site|SCYL1_ENST00000533862.1_Splice_Site			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)						regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TTTGCCCCCAGAAAGCCCTCA	0.627000													39	48					0	0	0.005524	0	0
SSH1	54434	broad.mit.edu	37	12	109182309	109182309	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:109182309C>A	ENST00000326495.5	-	15	2698	c.2605G>T	c.(2605-2607)Ggc>Tgc	p.G869C	SSH1_ENST00000360239.3_Missense_Mutation_p.G557C	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	869					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAGGGGGCCCAGCTCGTGG	0.672000													43	57					3.61848e-18	4.27972e-18	0.007835	1	0
AMT	275	broad.mit.edu	37	3	49458927	49458927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:49458927G>A	ENST00000273588.3	-	3	639	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	AMT_ENST00000395338.2_Nonsense_Mutation_p.Q113*|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Nonsense_Mutation_p.Q57*|AMT_ENST00000546031.1_Nonsense_Mutation_p.Q16*|AMT_ENST00000458307.2_Nonsense_Mutation_p.Q113*	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	113					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGGCCCACCTGGTTTGGTCTT	0.493000													73	105					0	0	0.003610	0	0
DNAJB14	79982	broad.mit.edu	37	4	100822301	100822301	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr4:100822301T>A	ENST00000442697.2	-	8	1178	c.1024A>T	c.(1024-1026)Atg>Ttg	p.M342L		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	342					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GCATACTGCATATCTGTTTCT	0.383000													41	70					0	0	0.006999	0	0
LRRC3	81543	broad.mit.edu	37	21	45877273	45877273	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr21:45877273C>A	ENST00000291592.4	+	2	1063	c.746C>A	c.(745-747)tCc>tAc	p.S249Y		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	249						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GCCCCCGCCTCCAAGGACCCC	0.642000													12	118					4.36969e-10	4.79124e-10	0.001855	1	0
HECW2	57520	broad.mit.edu	37	2	197184551	197184551	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:197184551C>T	ENST00000260983.2	-	9	1245	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCATGTCCTCGTCATCGGAA	0.512000													8	96					0	0	0.003080	0	0
NRCAM	4897	broad.mit.edu	37	7	107822364	107822364	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:107822364C>A	ENST00000379028.3	-	24	3018	c.2548G>T	c.(2548-2550)Ggg>Tgg	p.G850W	NRCAM_ENST00000379022.4_Missense_Mutation_p.G850W|NRCAM_ENST00000351718.4_Missense_Mutation_p.G834W|NRCAM_ENST00000379024.4_Missense_Mutation_p.G831W|NRCAM_ENST00000425651.2_Missense_Mutation_p.G850W|NRCAM_ENST00000413765.2_Missense_Mutation_p.G831W			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	850	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGCACGTTCCCAGGAGCCACC	0.458000													38	62					6.29468e-14	7.20718e-14	0.004878	1	0
RSPH10B2	728194	broad.mit.edu	37	7	6797501	6797501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:6797501C>T	ENST00000403107.1	+	2	580	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Nonsense_Mutation_p.Q65*|RSPH10B2_ENST00000404077.1_Nonsense_Mutation_p.Q65*|RSPH10B2_ENST00000297186.3_Nonsense_Mutation_p.Q65*					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CCAAAACGTTCAGCAGAACGA	0.493000													118	441					0	0	0.003610	0	0
CNGB3	54714	broad.mit.edu	37	8	87588277	87588277	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr8:87588277C>G	ENST00000320005.5	-	18	2232	c.2185G>C	c.(2185-2187)Gaa>Caa	p.E729Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	729					signal transduction|visual perception	integral to membrane	cGMP binding	p.E729fs*3(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tcttcattttctttttgttta	0.343000													50	76					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8705382	8705382	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:8705382C>T	ENST00000378641.3	+	16	2136	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	PLCB1_ENST00000378637.2_Missense_Mutation_p.S554L|PLCB1_ENST00000338037.6_Missense_Mutation_p.S554L|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	554	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGTTTGAGTCATTTGAAATT	0.373000													40	82					0	0	0.006230	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666133	133666133	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr3:133666133G>C	ENST00000310926.4	-	9	1535	c.1262C>G	c.(1261-1263)tCc>tGc	p.S421C	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S345C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	421					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGTTGGGGTGGAGCATCCCAT	0.488000													38	76					0	0	0.005524	0	0
CAPS2	84698	broad.mit.edu	37	12	75672714	75672714	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:75672714C>A	ENST00000393284.3	-	17	1706	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	CAPS2_ENST00000442339.2_Missense_Mutation_p.D191Y|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409799.1_Intron|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGTCTTCATCATCTACTATT	0.328000													39	69					6.97489e-18	8.2286e-18	0.004878	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142699953	142699954	+	RNA	INS	-	-	A	rs74315780		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr1:142699953_142699954insA	ENST00000369381.2	-	0	2077																											tatatatatatatatatatata	0.257													3	6	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	RNA	DEL	A	A	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:65894933delA	ENST00000377977.3	+	0	862																											TCAGAGGTTTAAAAAAAAAAA	0.517													2	4	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71801348	71801349	+	In_Frame_Ins	INS	-	-	GCGGAT			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr2:71801348_71801349insGCGGAT	ENST00000258104.3	+	30	3472_3473	c.3195_3196insGCGGAT	c.(3193-3198)gagcga>gaGCGGATgcga	p.1066_1067insMR	DYSF_ENST00000394120.2_In_Frame_Ins_p.1067_1068insMR|DYSF_ENST00000410041.1_In_Frame_Ins_p.1084_1085insMR|DYSF_ENST00000409744.1_In_Frame_Ins_p.1053_1054insMR|DYSF_ENST00000409651.1_In_Frame_Ins_p.1098_1099insMR|DYSF_ENST00000409366.1_In_Frame_Ins_p.1067_1068insMR|DYSF_ENST00000429174.2_In_Frame_Ins_p.1066_1067insMR|DYSF_ENST00000410020.3_In_Frame_Ins_p.1084_1085insMR|DYSF_ENST00000409762.1_In_Frame_Ins_p.1083_1084insMR|DYSF_ENST00000409582.3_In_Frame_Ins_p.1083_1084insMR|DYSF_ENST00000413539.2_In_Frame_Ins_p.1097_1098insMR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1066	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGAGGCGGAGGGCGAGGGCTG	0.658													14	197	---	---	---	---					
CSNK1A1	1452	broad.mit.edu	37	5	148930440	148930440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr5:148930440delC	ENST00000261798.5	-	1	520	c.88delG	c.(88-90)acfs	p.D30fs	CSNK1A1_ENST00000377843.2_Frame_Shift_Del_p.D30fs|CSNK1A1_ENST00000515748.2_Frame_Shift_Del_p.D30fs|CSNK1A1_ENST00000515768.1_Frame_Shift_Del_p.D30fs	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	30	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAATAGATGTCCCCGAAGGAG	0.537													75	112	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													5	11	---	---	---	---					
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						TCCTTTGGGGatatatatatat	0.302													3	5	---	---	---	---					
SLC18A3	6572	broad.mit.edu	37	10	50819502	50819502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr10:50819502delC	ENST00000374115.3	+	1	1156	c.716delC	c.(715-717)gcfs	p.A239fs	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	239					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TATGAGTTCGCCGGCAAGCGC	0.662													16	27	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													4	3	---	---	---	---					
OR4C16	219428	broad.mit.edu	37	11	55339854	55339854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr11:55339854delT	ENST00000314634.3	+	1	251	c.251delT	c.(250-252)ctfs	p.L85fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTGGATGCCCTTTTGAAGAAG	0.443													186	340	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttg>t	p.LL4432del		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4432					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557													7	248	---	---	---	---					
OR11H12	440153	broad.mit.edu	37	14	19378148	19378149	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr14:19378148_19378149delCC	ENST00000550708.1	+	1	627_628	c.555_556delCC	c.(553-558)ggcafs	p.GP185fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTCTGTGGCCCAAACATTAT	0.485													26	142	---	---	---	---					
MKRN3	7681	broad.mit.edu	37	15	23811405	23811405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr15:23811405delC	ENST00000314520.3	+	1	952	c.476delC	c.(475-477)gcfs	p.A159fs	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	159						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGCGGAAGCCCCCCCGGCT	0.642													22	59	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32126980	32126981	+	RNA	INS	-	-	G			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr16:32126980_32126981insG	ENST00000564145.1	-	0	456																											CGCGGCTTTTTCCCGCCCCGCC	0.693													4	6	---	---	---	---					
PHF23	79142	broad.mit.edu	37	17	7139891	7139891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr17:7139891delG	ENST00000320316.3	-	4	581	c.355delC	c.(355-357)tgfs	p.L119fs	PHF23_ENST00000454255.2_Frame_Shift_Del_p.L115fs|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000571362.1_Intron	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	119							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGGGCCTGCAGACGAGAGAAA	0.537													91	180	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221313	1221314	+	Frame_Shift_Ins	INS	-	-	C	rs67873004		TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:1221313_1221314insC	ENST00000326873.7	+	6	2009_2010	c.836_837insC	c.(835-837)gccfs	p.A279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGACTGTGGCCCCCCGCTCT	0.604		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			10	14	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10600425	10600425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr19:10600425delC	ENST00000171111.5	-	4	1977	c.1430delG	c.(1429-1431)gcfs	p.G477fs	KEAP1_ENST00000393623.2_Frame_Shift_Del_p.G477fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCGTCAAAGCCCCCCACGGC	0.577													51	29	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													8	906	---	---	---	---					
FTSJ1	24140	broad.mit.edu	37	X	48339704	48339704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:48339704delA	ENST00000019019.2	+	8	871	c.442delA	c.(442-444)agfs	p.K148fs	FTSJ1_ENST00000456787.1_Frame_Shift_Del_p.K148fs|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Frame_Shift_Del_p.K11fs|FTSJ1_ENST00000348411.2_Frame_Shift_Del_p.K148fs	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	148					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						ACATGTCCTGAAGCCAGGGGG	0.612													22	11	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123197866	123197866	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7156-01A-11D-2036-08	TCGA-78-7156-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d17eda6c-b986-4ba3-b0e9-bac7a751c26a	9e3e8148-b609-4b1d-9ac9-ac8f730b14ef	g.chrX:123197866delA	ENST00000371160.1	+	20	2280	c.1990delA	c.(1990-1992)aafs	p.K664fs	STAG2_ENST00000371145.3_Frame_Shift_Del_p.K664fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.K595fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.K664fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.K664fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.K664fs			Q8N3U4	STAG2_HUMAN	stromal antigen 2	664					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTGGCAGATAAATTTAACCG	0.343													17	35	---	---	---	---