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
SKIL	6498	broad.mit.edu	37	3	170108972	170108972	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:170108972T>A	ENST00000458537.3	+	5	2529	c.1820T>A	c.(1819-1821)tTg>tAg	p.L607*	SKIL_ENST00000413427.2_Nonsense_Mutation_p.L561*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.L587*|SKIL_ENST00000259119.4_Nonsense_Mutation_p.L607*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	607					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GAGAAAAAATTGGAGCAGATA	0.333000													7	21					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412221	63412221	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:63412221C>T	ENST00000330258.3	-	2	1218	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	AMER1_ENST00000403336.1_Missense_Mutation_p.V316M|AMER1_ENST00000374869.3_Missense_Mutation_p.V316M	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									AGGGATGTCACATCCCCAAAC	0.537000													4	122					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18919380	18919380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:18919380G>A	ENST00000284878.7	+	2	827	c.79G>A	c.(79-81)Gag>Aag	p.E27K	CXADR_ENST00000400166.1_Missense_Mutation_p.E27K|CXADR_ENST00000306618.10_Missense_Mutation_p.E27K|CXADR_ENST00000400165.1_Missense_Mutation_p.E27K|CXADR_ENST00000356275.6_Missense_Mutation_p.E27K|CXADR_ENST00000400169.1_Missense_Mutation_p.E27K	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	27	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TACTCCTGAAGAGATGATTGA	0.478000													22	46					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463621	16463621	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:16463621A>T	ENST00000308683.2	-	2	982	c.856T>A	c.(856-858)Tca>Aca	p.S286T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	286						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTAATATCTGAAAGATATTCT	0.373000													24	50					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080866	148080866	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:148080866G>A	ENST00000361727.3	+	22	4117	c.3601G>A	c.(3601-3603)Gct>Act	p.A1201T	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.A260T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1201	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAACGCCTCGGCTCACGTCCA	0.632000										HNSCC(39;0.1)			43	26					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566966	4566966	+	Silent	SNP	T	T	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:4566966T>C	ENST00000360213.1	+	1	546	c.546T>C	c.(544-546)tgT>tgC	p.C182C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCCTACTGTGAGCACATGG	0.527000													33	67					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940288	144940288	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:144940288G>T	ENST00000525985.1	-	2	7205	c.7134C>A	c.(7132-7134)gaC>gaA	p.D2378E				P58107	EPIPL_HUMAN	epiplakin 1	2378						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTCGCTGGGGTCGGCCAGGA	0.687000													36	737					3.3946e-10	3.53703e-10	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110740831	110740831	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:110740831C>T	ENST00000331565.4	+	12	2434	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	650					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCTCCAACACCCTCTCCGTG	0.597000													3	42					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11356956	11356956	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:11356956C>A	ENST00000354449.3	+	7	692	c.667C>A	c.(667-669)Caa>Aaa	p.Q223K	ATG7_ENST00000354956.5_Missense_Mutation_p.Q223K|ATG7_ENST00000446450.2_Missense_Mutation_p.Q184K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	223					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTTCCAAGGTCAAAGGACGAA	0.343000													4	32					2.56e-06	2.6126e-06	1	1	0
FZD8	8325	broad.mit.edu	37	10	35930253	35930253	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:35930253G>C	ENST00000374694.1	-	1	109	c.105C>G	c.(103-105)tgC>tgG	p.C35W		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	35	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGATCTCTTGGCATGCCAGCT	0.637000													14	39					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503690	140503690	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:140503690G>A	ENST00000194152.1	+	1	2110	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		704					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)			CCTCTTCTCGGTGCTCCTGTT	0.706000													20	292					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32647839	32647839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr22:32647839C>T	ENST00000266086.4	-	3	241	c.230G>A	c.(229-231)aGt>aAt	p.S77N	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	77					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCGATGTTACTGGCAAAGAG	0.488000													13	42					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814331	156814331	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:156814331G>A	ENST00000368195.3	-	14	3056	c.2660C>T	c.(2659-2661)tCt>tTt	p.S887F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	887	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.S887C(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCCTGGCAGAGTAGTTTCC	0.572000													14	28					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160858126	160858126	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:160858126C>G	ENST00000392145.1	+	7	1198	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	SLC22A3_ENST00000275300.2_Missense_Mutation_p.L391V			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	391						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CGTGGTGGAACTGCCAGGAGC	0.532000													4	87					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71478001	71478001	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:71478001C>T	ENST00000370924.4	-	2	1294	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	PTGER3_ENST00000306666.5_Missense_Mutation_p.R355Q|PTGER3_ENST00000460330.1_Missense_Mutation_p.R355Q|PTGER3_ENST00000351052.5_Missense_Mutation_p.R355Q|PTGER3_ENST00000354608.5_Missense_Mutation_p.R355Q|PTGER3_ENST00000414819.1_Missense_Mutation_p.R355Q|PTGER3_ENST00000370932.2_Missense_Mutation_p.R355Q|PTGER3_ENST00000356595.4_Missense_Mutation_p.R355Q|PTGER3_ENST00000370931.3_Missense_Mutation_p.R355Q	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	355					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCAAAACTTTCGAAGAAGGAT	0.423000													13	28					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876476	35876476	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:35876476C>T	ENST00000303115.3	+	8	1397	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	423					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTCTCCAATCTGGAATCCTG	0.512000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						18	22					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520892	69520892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:69520892C>T	ENST00000338206.5	-	4	1023	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	338					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CATCAAATCTCCATAGAACCT	0.358000													9	72					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	33					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224485	77224485	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:77224485G>A	ENST00000458128.1	-	1	650	c.651C>T	c.(649-651)gtC>gtT	p.V217V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	217					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCAATTCATAGACGATGGGAA	0.542000													30	84					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9862879	9862879	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:9862879C>T	ENST00000380913.3	+	4	1021	c.931C>T	c.(931-933)Cca>Tca	p.P311S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	311					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAAGAAAGCACCATCATCCCC	0.617000													10	26					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703685	55703685	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:55703685G>A	ENST00000301532.3	-	1	191	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGTTGCTAAGGAAAAAATACA	0.373000													11	28					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63666126	63666126	+	Silent	SNP	C	C	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:63666126C>A	ENST00000402010.2	+	5	963	c.384C>A	c.(382-384)gtC>gtA	p.V128V	MARK2_ENST00000408948.3_Silent_p.V95V|MARK2_ENST00000509502.2_Silent_p.V95V|MARK2_ENST00000508192.1_Silent_p.V128V|MARK2_ENST00000502399.3_Silent_p.V128V|MARK2_ENST00000350490.7_Silent_p.V128V|MARK2_ENST00000315032.8_Silent_p.V128V|MARK2_ENST00000377810.3_Silent_p.V95V|MARK2_ENST00000413835.2_Silent_p.V128V|MARK2_ENST00000425897.2_Silent_p.V95V|MARK2_ENST00000361128.5_Silent_p.V128V|MARK2_ENST00000377809.4_Silent_p.V128V|MARK2_ENST00000513765.2_Silent_p.V95V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	128	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTACCTTGTCATGGAGTACG	0.502000													27	38					8.16721e-17	8.6306e-17	1	1	0
MUC16	94025	broad.mit.edu	37	19	9067504	9067504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:9067504C>A	ENST00000397910.4	-	3	20145	c.19942G>T	c.(19942-19944)Gag>Tag	p.E6648*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6650	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						GACTCCATCTCAATCCTTGTA	0.498000													24	45					1.96895e-08	2.03731e-08	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													3	61					0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335423	335423	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:335423C>T	ENST00000219406.6	+	6	925	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PDIA2_ENST00000404312.1_Missense_Mutation_p.R300C|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	303					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	p.R303C(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCAGCTCCCCGCTTCCGGGG	0.677000													4	17					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													5	57					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558215	159558215	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:159558215G>A	ENST00000255040.2	+	2	486	c.389G>A	c.(388-390)gGg>gAg	p.G130E		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	130	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGATCAATGGGACACCTTTG	0.483000													18	21					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									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)		ccagcctccaactcccccttc	0.627000													6	21					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101740668	101740668	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:101740668G>A	ENST00000360264.3	+	5	346	c.326G>A	c.(325-327)gGa>gAa	p.G109E	CUX1_ENST00000393824.3_Missense_Mutation_p.G72E|CUX1_ENST00000292535.7_Missense_Mutation_p.G98E|CUX1_ENST00000292538.4_Missense_Mutation_p.G109E|CUX1_ENST00000550008.2_Missense_Mutation_p.G98E|CUX1_ENST00000549414.2_Missense_Mutation_p.G98E|CUX1_ENST00000547394.2_Missense_Mutation_p.G93E|CUX1_ENST00000546411.2_Missense_Mutation_p.G98E|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.G109E|CUX1_ENST00000556210.1_Missense_Mutation_p.G98E	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	98					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGGATCTCGGACAGCAACTC	0.522000													22	45					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385074	41385074	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:41385074C>T	ENST00000400454.1	-	33	6403	c.5926G>A	c.(5926-5928)Gga>Aga	p.G1976R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1976				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTCTGCTCCCTCCCGCTGA	0.597000													5	28					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722469	150722469	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:150722469C>T	ENST00000335244.4	-	4	549	c.420G>A	c.(418-420)caG>caA	p.Q140Q	SLC36A2_ENST00000521967.1_Silent_p.Q140Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	140					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCGTGATTCTGGAGCCAGG	0.537000													7	30					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41832983	41832983	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr22:41832983G>A	ENST00000327492.3	-	2	1073	c.367C>T	c.(367-369)Cca>Tca	p.P123S		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	123					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCAGCTCTGGGGCACCGCAA	0.577000													21	38					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658514	142658514	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:142658514G>A	ENST00000355265.2	-	3	630	c.156C>T	c.(154-156)atC>atT	p.I52I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	52					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAAAATCAGGATAGCTGTCA	0.552000													11	19					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562762	11562762	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:11562762C>T	ENST00000294484.6	+	3	1262	c.1124C>T	c.(1123-1125)cCt>cTt	p.P375L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P375L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	375					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATGACTCACCCTGAGTTCTAC	0.597000													7	27					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10303993	10303993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:10303993C>T	ENST00000403437.2	-	27	3543	c.3449G>A	c.(3448-3450)aGc>aAc	p.S1150N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1150					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGCCTCTCGCTGATCTCCTC	0.602000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	102					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346493	29346493	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:29346493G>C	ENST00000558402.1	+	5	1005	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	APBA2_ENST00000561069.1_Missense_Mutation_p.E136Q|APBA2_ENST00000558330.1_Missense_Mutation_p.E136Q|APBA2_ENST00000558259.1_Missense_Mutation_p.E136Q|APBA2_ENST00000411764.1_Missense_Mutation_p.E136Q			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	136					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGAGTGCCAGGAGGCGGTGGA	0.662000													6	47					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997587	72997587	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:72997587G>A	ENST00000322038.5	+	2	674	c.90G>A	c.(88-90)ggG>ggA	p.G30G	TSHZ1_ENST00000580243.1_Silent_p.G75G	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGGCTACGGGTCGCCCTTCA	0.567000													17	23					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11539984	11539984	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:11539984C>T	ENST00000262442.3	+	9	1737	c.1669C>T	c.(1669-1671)Ccg>Tcg	p.P557S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P557S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	557	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTTGAAAGACCGCTGGTAGC	0.433000													4	28					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153789237	153789237	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:153789237G>C	ENST00000297107.6	+	9	1438	c.1301G>C	c.(1300-1302)aGt>aCt	p.S434T	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.S372T|GALNT10_ENST00000377657.3_Missense_Mutation_p.S107T|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	434						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			aactgcaagagtttcaagtgg	0.587000													51	98					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881855	69881855	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:69881855G>A	ENST00000358913.5	+	2	1148	c.660G>A	c.(658-660)agG>agA	p.R220R	MYPN_ENST00000540630.1_Silent_p.R220R|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.R220R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	220	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CGGATACCAGGGATAATGAAG	0.522000													10	13					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202569531	202569531	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:202569531G>C	ENST00000367267.1	-	7	1065	c.873C>G	c.(871-873)atC>atG	p.I291M	SYT2_ENST00000367268.4_Missense_Mutation_p.I291M	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	291	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TAGCCTCCAGGATGCAGACAG	0.622000											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	57					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108380784	108380784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:108380784C>T	ENST00000361582.3	+	20	2490	c.2260C>T	c.(2260-2262)Caa>Taa	p.Q754*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q754*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	754					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCTTGCTCGTCAAAGGCAGCT	0.368000													13	26					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126714720	126714720	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:126714720G>A	ENST00000309035.6	-	1	1739	c.1609C>T	c.(1609-1611)Ccg>Tcg	p.P537S	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.P537S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TTCTGGTACGGTGAGTGAGGC	0.677000													36	43					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645149	38645149	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:38645149G>A	ENST00000254051.6	-	3	670	c.512C>T	c.(511-513)tCt>tTt	p.S171F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	171	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGGGGTGACAGAGGGGCTGGA	0.597000													41	49					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283968	152283968	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:152283968C>G	ENST00000368799.1	-	3	3429	c.3394G>C	c.(3394-3396)Ggg>Cgg	p.G1132R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1132	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTCCGCCCATGGGCAGAC	0.597000									Ichthyosis				5	328					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457571	107457571	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr9:107457571T>G	ENST00000318763.5	+	1	912	c.869T>G	c.(868-870)aTg>aGg	p.M290R		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GCCCTTTTTATGTACATGAAA	0.408000													32	30					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31475299	31475299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:31475299G>T	ENST00000252229.6	+	5	1094	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	MICB_ENST00000538442.1_Nonsense_Mutation_p.E307*|MICB_ENST00000399150.3_Nonsense_Mutation_p.E296*	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	339					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATCAGCGGCAGAGGGTCCAGG	0.468000													10	36					3.03607e-14	3.18574e-14	1	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896614	151896614	+	RNA	SNP	C	C	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:151896614C>A	ENST00000361201.4	-	0	326					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						TCGTGGTTTCCTGGACATCTT	0.567000													4	158					0.184627	0.184627	1	1	0
TTC16	158248	broad.mit.edu	37	9	130482589	130482589	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr9:130482589C>T	ENST00000373289.3	+	6	652	c.572C>T	c.(571-573)aCg>aTg	p.T191M	TTC16_ENST00000393748.4_Missense_Mutation_p.T15M|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	191							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCCTGCCTCACGCTCATCACC	0.612000													27	29					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108032	46108032	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:46108032C>T	ENST00000321037.4	+	2	942	c.712C>T	c.(712-714)Cat>Tat	p.H238Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	238						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TACAAGTGATCATGGGATGAC	0.398000													25	44					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167818	185167818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:185167818G>A	ENST00000265026.3	+	6	1475	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	MAP3K13_ENST00000446828.1_Missense_Mutation_p.G174R|MAP3K13_ENST00000443863.1_Missense_Mutation_p.G237R|MAP3K13_ENST00000535426.1_Missense_Mutation_p.G237R|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G381R	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	381	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTGCCCTGATGGATTCAAAAT	0.428000													20	59					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115401143	115401143	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:115401143A>G	ENST00000369358.4	-	13	1548	c.1304T>C	c.(1303-1305)gTt>gCt	p.V435A	NRAP_ENST00000369360.3_Missense_Mutation_p.V400A|NRAP_ENST00000359988.3_Missense_Mutation_p.V435A|NRAP_ENST00000360478.3_Missense_Mutation_p.V400A			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	435						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGCTGCCAACTTTCATAGC	0.463000													20	16					0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65369922	65369922	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:65369922G>A	ENST00000432196.2	+	1	769	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	257						cytoplasm		p.D257N(1)		lung(1)|prostate(1)|skin(1)	3						GGCCGGCTTCGACGGCCGCCT	0.697000													3	7					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28307054	28307054	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:28307054C>T	ENST00000284987.5	-	4	1541	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	474	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGTGGTAGGTCCAGCAAACAG	0.507000													11	17					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416054	105416054	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr14:105416054G>A	ENST00000333244.5	-	7	5853	c.5734C>T	c.(5734-5736)Ccc>Tcc	p.P1912S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1912						nucleus		p.P1912S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAAACTGGGCATATCCACC	0.627000													4	190					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373155	86373155	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:86373155G>A	ENST00000604798.1	-	8	2553	c.1349C>T	c.(1348-1350)cCa>cTa	p.P450L	MGAT4C_ENST00000552808.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.P450L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.P479L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.P450L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	450					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATATCAAATGGAATTTTTTG	0.313000													12	19					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369584	20369584	+	RNA	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:20369584G>A	ENST00000593655.1	-	0	199																											CTTACCAGGAGACTGGATATT	0.448000													15	41					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4937824	4937824	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:4937824T>C	ENST00000328908.5	+	6	1267	c.1136T>C	c.(1135-1137)cTg>cCg	p.L379P	CDYL_ENST00000343762.5_Missense_Mutation_p.L193P|CDYL_ENST00000397588.3_Missense_Mutation_p.L325P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.L193P			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	379					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGAGTGCTCTGAGCACGGCC	0.433000													16	24					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863093	5863093	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:5863093G>A	ENST00000329322.5	-	1	34	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.S16F	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGAATGAAGAAGTATGGAA	0.413000													16	14					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347662	140347662	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:140347662C>T	ENST00000289269.5	+	1	1843	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		437	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACAACATCACGGTGACAG	0.552000													35	89					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612036	189612036	+	Silent	SNP	G	G	A	rs148577576	byFrequency	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:189612036G>A	ENST00000264731.3	+	14	1877	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	TP63_ENST00000354600.5_Silent_p.A502A|TP63_ENST00000382063.4_Silent_p.A511A|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Silent_p.A498A|TP63_ENST00000449992.1_Silent_p.A417A|TP63_ENST00000440651.2_Silent_p.A592A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	596	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCGACATGCGATCTGGAAGG	0.532000										HNSCC(45;0.13)			16	43					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290762	5290762	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:5290762C>T	ENST00000380237.1	-	4	581	c.237G>A	c.(235-237)atG>atA	p.M79I	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.M79I			P02100	HBE_HUMAN	hemoglobin, epsilon 1	79					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGGTTGTCCATGTTTTTAA	0.522000													14	55					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21422579	21422579	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:21422579C>T	ENST00000313654.9	+	29	3709	c.3468C>T	c.(3466-3468)tcC>tcT	p.S1156S	LAMA3_ENST00000399516.3_Silent_p.S1156S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1156	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCAGGCTCCTTCCATGCCT	0.577000													32	50					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056138	26056138	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:26056138G>A	ENST00000343677.2	-	1	561	c.519C>T	c.(517-519)agC>agT	p.S173S		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	173					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CCTTCTTTGGGCTCTTAGCCA	0.562000													5	153					0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	731537	731537	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:731537G>A	ENST00000565677.1	+	3	849	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	STUB1_ENST00000564370.1_Missense_Mutation_p.R81Q|STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.R153Q			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	153					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				ATTGAGGAGCGGCGCATCCAC	0.642000													11	11					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932226	32932226	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:32932226T>G	ENST00000383763.4	+	4	1593	c.1530T>G	c.(1528-1530)taT>taG	p.Y510*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	510					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATTGGTTATGACCACGATG	0.612000													11	22					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682001	100682001	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:100682001G>T	ENST00000306151.4	+	3	7368	c.7304G>T	c.(7303-7305)aGt>aTt	p.S2435I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2435	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGAAGCCAGTTCATCTCCT	0.547000													80	330					1.88935e-48	2.02528e-48	1	1	0
ZNF728	388523	broad.mit.edu	37	19	23159264	23159264	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:23159264G>C	ENST00000594710.1	-	4	1020	c.875C>G	c.(874-876)gCc>gGc	p.A292G		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CTTACTAAAGGCTTTGCCACA	0.448000													6	40					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108677852	108677852	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:108677852C>T	ENST00000232603.5	-	28	2997	c.2915G>A	c.(2914-2916)aGa>aAa	p.R972K	MORC1_ENST00000483760.1_Missense_Mutation_p.R951K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	972					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						taaagggagtctatgtcttgc	0.299000													12	15					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	56					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				39	50					0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103238242	103238242	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:103238242G>A	ENST00000251810.3	-	3	468	c.225C>T	c.(223-225)ctC>ctT	p.L75L	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.L23L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	75					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TCCAGTGAGGGAGATCCTTTG	0.338000								Modulation of nucleotide pools					20	30					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120594339	120594339	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:120594339C>T	ENST00000300648.6	-	28	3250	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1080					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCCTGCTCTGCAAAGGCA	0.597000													7	19					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153053383	153053383	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:153053383G>A	ENST00000370092.3	-	7	620	c.435C>T	c.(433-435)gtC>gtT	p.V145V	IDH3G_ENST00000217901.5_Silent_p.V145V|IDH3G_ENST00000427365.2_Silent_p.V87V|IDH3G_ENST00000370093.1_Silent_p.V145V|IDH3G_ENST00000497043.1_5'UTR	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	145					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TACAGTGGATGACGTTGGCAT	0.607000													7	122					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20939745	20939745	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:20939745G>A	ENST00000298925.5	+	7	858	c.705G>A	c.(703-705)ggG>ggA	p.G235G	NELL1_ENST00000325319.5_Silent_p.G150G|NELL1_ENST00000532434.1_Silent_p.G207G|NELL1_ENST00000357134.5_Silent_p.G207G			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	207					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCCAAGATGGGAAGATCATCT	0.378000													20	56					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19716377	19716377	+	Splice_Site	SNP	C	C	T	rs142617767		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:19716377C>T	ENST00000284885.3	-	11	1205	c.1171_splice	c.e11-1	p.G391_splice		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	391	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATGTAAAATCCTGTAAAAAT	0.378000													23	38					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63720659	63720659	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:63720659G>A	ENST00000421025.1	+	3	369	c.100G>A	c.(100-102)Gat>Aat	p.D34N	ZNF679_ENST00000255746.4_Missense_Mutation_p.D34N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GCAATGCCTGGATCACGCTCA	0.388000													19	107					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990574	63990574	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:63990574C>T	ENST00000370657.4	-	4	915	c.882G>A	c.(880-882)agG>agA	p.R294R	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	294					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATTATATTTCCTTGCCACTT	0.418000													11	18					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228494091	228494091	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:228494091G>A	ENST00000570156.2	+	55	14623	c.14549G>A	c.(14548-14550)cGg>cAg	p.R4850Q	OBSCN_ENST00000366707.4_Missense_Mutation_p.R1527Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3893Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3893Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1012Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3893					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4605L(1)|p.R3893L(1)|p.R4475L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGTGTTCCGGGAGCCGCTG	0.667000													7	11					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476956	20476956	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:20476956G>A	ENST00000573854.1	+	3	409	c.295G>A	c.(295-297)Gga>Aga	p.G99R	ACSM2A_ENST00000219054.6_Missense_Mutation_p.G99R|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G99R|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G20R|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	99					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGTCCTCTCGGGAGCCTGTGG	0.592000													5	37					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	230					0.014758	0.0148577	1	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789041	140789041	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:140789041C>T	ENST00000520790.1	+	1	1272	c.1272C>T	c.(1270-1272)gcC>gcT	p.A424A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCGTAGCCACTGACAGGG	0.493000													16	19					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36085069	36085069	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:36085069T>C	ENST00000303965.4	-	29	4918	c.4429A>G	c.(4429-4431)Agt>Ggt	p.S1477G		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1477	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATGTTTACTACTCTGTAAG	0.308000													4	10					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270406	1270406	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:1270406G>A	ENST00000348261.5	+	35	6722	c.6474G>A	c.(6472-6474)gcG>gcA	p.A2158A	CACNA1H_ENST00000565831.1_Silent_p.A2152A|CACNA1H_ENST00000358590.4_Silent_p.A2152A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2158					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCCCTCGGCGGAGCTGGGCA	0.731000													10	20					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33690846	33690846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:33690846C>T	ENST00000451316.1	-	7	1419	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	IP6K3_ENST00000293756.4_Missense_Mutation_p.R295Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	295					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GAGCTCCCTCCGGAGGTGGCT	0.522000													3	48					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38983156	38983156	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:38983156G>A	ENST00000355481.4	+	38	6285	c.6154G>A	c.(6154-6156)Gaa>Aaa	p.E2052K	RYR1_ENST00000359596.3_Missense_Mutation_p.E2052K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2052K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2052	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGGAGGAGGAACCAGAGGA	0.502000													11	35					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537407	31537407	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:31537407G>A	ENST00000261592.5	-	8	1608	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Silent_p.I152I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.I363I|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	437						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGATAGCCTGGATCTTTTCTT	0.473000													15	27					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329460	56329460	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:56329460C>T	ENST00000443188.1	-	4	791	c.81G>A	c.(79-81)aaG>aaA	p.K27K	NLRP11_ENST00000360133.3_Silent_p.K27K|NLRP11_ENST00000589093.1_Silent_p.K27K|NLRP11_ENST00000589824.2_Silent_p.K27K|NLRP11_ENST00000592953.1_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	27	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAGATACTTCTTAAAACTCT	0.428000													16	39					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83036423	83036423	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:83036423C>T	ENST00000307792.3	-	7	1270	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R208Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	268	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACACAGAGTCGCCCGACCCT	0.383000													23	31					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190873424	190873424	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:190873424G>C	ENST00000226798.4	+	3	463	c.241G>C	c.(241-243)Gga>Cga	p.G81R	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	81					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTTACCCTGGGAGCTCCACA	0.428000													6	95					0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65466627	65466627	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:65466627G>A	ENST00000334121.6	+	9	1495	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	SREK1_ENST00000380918.3_Missense_Mutation_p.D330N|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	330	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						gaaggatcgagacaaagagaa	0.403000													10	21					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30683659	30683659	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:30683659G>A	ENST00000378943.3	+	2	289	c.110G>A	c.(109-111)aGt>aAt	p.S37N	GK_ENST00000378946.3_Missense_Mutation_p.S37N|GK_ENST00000378941.3_Missense_Mutation_p.S37N|GK_ENST00000378945.3_Missense_Mutation_p.S37N|GK_ENST00000427190.1_5'UTR	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	37					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GAACTACTTAGTCATCATCAA	0.303000													7	28					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123615714	123615714	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:123615714G>A	ENST00000422452.2	-	22	3880	c.3817C>T	c.(3817-3819)Ctt>Ttt	p.L1273F	TENM1_ENST00000371130.3_Missense_Mutation_p.L1266F|TENM1_ENST00000461429.1_5'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTCTCCACAAGAGATTTCAAC	0.458000													22	73					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72172810	72172810	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:72172810G>A	ENST00000356056.5	-	29	5960	c.5488C>T	c.(5488-5490)Cca>Tca	p.P1830S	MYO9A_ENST00000564571.1_Missense_Mutation_p.P1830S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1811S|MYO9A_ENST00000424560.1_Missense_Mutation_p.P1901S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1830	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAGCCTTTGGAGAAGGTTCT	0.458000													18	62					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31389147	31389147	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:31389147G>A	ENST00000328111.2	+	19	2381	c.2060G>A	c.(2059-2061)gGt>gAt	p.G687D	DNMT3B_ENST00000344505.4_Missense_Mutation_p.G667D|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G667D|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G591D|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G625D|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G679D|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G667D	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	687					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCAAGGAGGGTGATGACCGG	0.527000													16	41					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432372	10432372	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:10432372C>T	ENST00000245503.5	-	27	3763	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1127K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1127					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTCGATTTCCTCCTCCAGC	0.572000													15	39					0	0	1	0	0
EIF3H	8667	broad.mit.edu	37	8	117658843	117658843	+	Splice_Site	SNP	C	C	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:117658843C>A	ENST00000521861.1	-	7	852		c.e7-1		EIF3H_ENST00000276682.4_Splice_Site	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H						regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCTGCTGATACTAAAATTCAA	0.507000													38	101					9.8876e-21	1.05232e-20	1	1	0
OR51F1	256892	broad.mit.edu	37	11	4790452	4790452	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:4790452G>A	ENST00000380383.1	-	1	716	c.717C>T	c.(715-717)tcC>tcT	p.S239S	OR51F1_ENST00000343430.3_Silent_p.S232S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	232						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATTCTTCAGGGGAGGCAATTC	0.458000													17	53					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347047	71347047	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:71347047T>C	ENST00000413702.1	+	4	874	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MUC7_ENST00000456088.1_Missense_Mutation_p.S196P|MUC7_ENST00000304887.5_Missense_Mutation_p.S196P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	196	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.587000													4	126					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992531	144992531	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:144992531G>A	ENST00000322810.4	-	32	12038	c.11869C>T	c.(11869-11871)Ctg>Ttg	p.L3957L	PLEC_ENST00000357649.2_Silent_p.L3824L|PLEC_ENST00000398774.2_Silent_p.L3788L|PLEC_ENST00000345136.3_Silent_p.L3820L|PLEC_ENST00000354958.2_Silent_p.L3798L|PLEC_ENST00000527096.1_Silent_p.L3843L|PLEC_ENST00000436759.2_Silent_p.L3847L|PLEC_ENST00000354589.3_Silent_p.L3820L|PLEC_ENST00000356346.3_Silent_p.L3806L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3957	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCACCTCCAGGGGAAGGTGG	0.667000													4	5					0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													3	25					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49933493	49933493	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:49933493G>A	ENST00000296474.3	-	11	2724	c.2697C>T	c.(2695-2697)acC>acT	p.T899T	MST1R_ENST00000344206.4_Intron	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	899					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACCACCCACGGTCACGTTGA	0.622000													6	143					0	0	1	0	0
ATP5H	10476	broad.mit.edu	37	17	73035062	73035062	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:73035062G>A	ENST00000301587.4	-	6	498	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	ATP5H_ENST00000344546.4_Missense_Mutation_p.P127S|KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	151					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					GGCCAATAGGGATACTTTTTC	0.363000													15	51					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424928	89424928	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:89424928C>T	ENST00000359595.3	-	3	367	c.153G>A	c.(151-153)gtG>gtA	p.V51V	HAPLN3_ENST00000562889.1_Silent_p.V113V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	51	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CGGGTGTCTCCACCACCAGCT	0.637000													25	54					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238844	48238844	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:48238844C>T	ENST00000309562.2	+	1	501	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCTCGTTATCATCCAATTGC	0.473000													30	58					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	43					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648310	130648310	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:130648310G>A	ENST00000539839.1	+	1	1307	c.725G>A	c.(724-726)cGt>cAt	p.R242H	FZD10_ENST00000229030.4_Missense_Mutation_p.V275M	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGTCTACTCCGTGGGCTACCT	0.662000													6	155					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155582013	155582013	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:155582013G>A	ENST00000245564.2	+	8	743	c.719G>A	c.(718-720)gGg>gAg	p.G240E	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.G205E|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	240					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGCTTCTCTGGGGTAGGCGCG	0.567000													11	25					0	0	1	0	0
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G	rs146739148	byFrequency	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:148594439A>G	ENST00000442702.2	+	21	2879	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000369187.3_Silent_p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463000													4	243					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186415629	186415629	+	Missense_Mutation	SNP	C	C	T	rs141620121		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:186415629C>T	ENST00000391997.2	-	3	229	c.142G>A	c.(142-144)Gag>Aag	p.E48K	PDC_ENST00000340129.5_Missense_Mutation_p.E48K|PDC_ENST00000497198.1_5'UTR|PDC_ENST00000456239.2_5'UTR	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	48					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	p.E48K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CTGAGAATCTCCTTCTTGCTA	0.353000													19	40					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793030	53793030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:53793030C>T	ENST00000426466.1	-	1	1845	c.598G>A	c.(598-600)Gtt>Att	p.V200I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	200					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GGAATAAAAACAACAGCGATA	0.448000													4	77					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226399	152226399	+	Silent	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:152226399C>T	ENST00000447306.1	+	2	1323	c.987C>T	c.(985-987)ctC>ctT	p.L329L	PNMA3_ENST00000370264.4_Silent_p.L329L|PNMA3_ENST00000370265.4_Silent_p.L329L	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	329					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tggtgaagctcctgcgtgagg	0.577000													13	36					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895859	24895859	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr13:24895859G>A	ENST00000382071.2	+	4	1040	c.955G>A	c.(955-957)Gac>Aac	p.D319N	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.D319N			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	319	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TGCTGATGAGGACGATGACAC	0.542000													22	81					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12091833	12091833	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:12091833C>T	ENST00000235332.4	+	10	1304	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.S346S	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	379										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCCCCAGGTCCCTCGGCCCCA	0.672000													38	88					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	155					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21438729	21438729	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:21438729G>A	ENST00000313654.9	+	34	4599	c.4358G>A	c.(4357-4359)tGt>tAt	p.C1453Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.C1453Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1453	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAAGGGTTGTACCAGCTGT	0.408000													6	90					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35624410	35624410	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr13:35624410C>T	ENST00000540320.1	+	6	1384	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	NBEA_ENST00000379939.2_Missense_Mutation_p.R284C|NBEA_ENST00000310336.4_Missense_Mutation_p.R284C|NBEA_ENST00000400445.3_Missense_Mutation_p.R284C			Q8NFP9	NBEA_HUMAN	neurobeachin	284						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGCAGTTTTCGTACTAGCAA	0.318000													6	19					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11288973	11288973	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:11288973C>T	ENST00000361445.4	-	19	2858	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	928					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTGCTATAGTCAGCTAGGACA	0.478000													21	43					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086268	56086268	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:56086268G>A	ENST00000312711.1	+	1	486	c.486G>A	c.(484-486)aaG>aaA	p.K162K		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCACCATAAAGATTTTTACTT	0.388000													12	32					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779025	97779025	+	Silent	SNP	C	C	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:97779025C>A	ENST00000344386.3	+	7	752	c.588C>A	c.(586-588)ggC>ggA	p.G196G	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.G196G	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	196										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CATCAACTGGCCAATGTTATA	0.333000													19	23					2.94398e-08	3.0252e-08	1	1	0
SOGA1	140710	broad.mit.edu	37	20	35443640	35443640	+	Silent	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:35443640G>A	ENST00000237536.4	-	5	2546	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	SOGA1_ENST00000279034.5_Silent_p.L497L|SOGA1_ENST00000456801.2_Silent_p.L338L|SOGA1_ENST00000357779.3_Silent_p.L497L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	497										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGAGCACCCGAGGACTGCAT	0.602000													35	64					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577337	92577337	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:92577337G>A	ENST00000298047.6	+	18	10821	c.10804G>A	c.(10804-10806)Gat>Aat	p.D3602N	FAT3_ENST00000409404.2_Missense_Mutation_p.D3602N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3452N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3602	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACAGTCACGATGGGAAAAT	0.483000										TCGA Ovarian(4;0.039)			66	130					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941272	52941272	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:52941272G>A	ENST00000332323.6	+	4	659	c.598G>A	c.(598-600)Gga>Aga	p.G200R	ZNF534_ENST00000433050.1_Missense_Mutation_p.G187R|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AAAGCCTTATGGATGTAATGA	0.358000													17	57					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118697	55118697	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:55118697C>T	ENST00000414150.2	+	3	376	c.98C>T	c.(97-99)aCc>aTc	p.T33I	MROH7_ENST00000395690.2_Missense_Mutation_p.T33I|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.T33I|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.T33I					maestro heat-like repeat family member 7																		GGGTCTGGTACCATCCCTCAG	0.562000													19	40					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41708265	41708265	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:41708265A>G	ENST00000373025.3	-	6	793	c.731T>C	c.(730-732)gTc>gCc	p.V244A		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	244					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCCTGGGTGACAGGCGCCCA	0.617000													6	136					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43345095	43345095	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:43345095C>T	ENST00000296088.7	+	3	704	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	SNRK_ENST00000454177.1_Missense_Mutation_p.H134Y|SNRK_ENST00000429705.2_Missense_Mutation_p.H134Y|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	134	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CCATAAACTCCATGTGGTTCA	0.358000													24	38					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35426104	35426104	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:35426104C>T	ENST00000229769.2	+	5	1185	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	334	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCTGCAGCTCCCTCAGCTCTC	0.607000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				48	91					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997588	72997588	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:72997588T>A	ENST00000322038.5	+	2	675	c.91T>A	c.(91-93)Tcg>Acg	p.S31T	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S76T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGGCTACGGGTCGCCCTTCAG	0.572000													17	24					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764302	120764302	+	Silent	SNP	T	T	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:120764302T>C	ENST00000273666.6	+	5	661	c.390T>C	c.(388-390)agT>agC	p.S130S	STXBP5L_ENST00000492541.1_Silent_p.S130S|STXBP5L_ENST00000472879.1_Silent_p.S130S|STXBP5L_ENST00000471454.1_Silent_p.S130S|STXBP5L_ENST00000497029.1_Silent_p.S130S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	130					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGTGCAAGTTCAGATGATA	0.348000													32	63					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127611782	127611782	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:127611782C>G	ENST00000508053.1	-	65	8516	c.7542G>C	c.(7540-7542)caG>caC	p.Q2514H	FBN2_ENST00000262464.4_Missense_Mutation_p.Q2514H			P35556	FBN2_HUMAN	fibrillin 2	2514	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACATGAACACTGATAACTCC	0.443000													33	96					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89745740	89745741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:89745740_89745741insG	ENST00000279488.7	-	1	1307_1308	c.76_77insC	c.(76-78)gctfs	p.A26fs	DUSP6_ENST00000308385.6_Frame_Shift_Ins_p.A26fs	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	26					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CAGCTCCAGCTGCTCGTTGAGC	0.649													20	39	---	---	---	---					
RP11-175P13.3	0	broad.mit.edu	37	12	100583704	100583704	+	RNA	DEL	A	A	-			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:100583704delA	ENST00000548404.2	-	0	197																											GAAGCCTCTGAAAGGCTGAGG	0.552													2	4	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21146788	21146789	+	RNA	INS	-	-	TT	rs34056823		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:21146788_21146789insTT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							tgtattttGTATTTTTTTTTTT	0.401													4	3	---	---	---	---					
TOP1	7150	broad.mit.edu	37	20	39721212	39721213	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:39721212_39721213delAA	ENST00000361337.2	+	9	965_966	c.715_716delAA	c.(715-717)gfs	p.K239fs		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	239					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)	AGAGAATGTCAAGTTTTATTAT	0.411			T	NUP98	AML*								8	71	---	---	---	---					
