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
FGD6	55785	broad.mit.edu	37	12	95604944	95604944	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:95604944G>C	ENST00000343958.4	-	2	339	c.116C>G	c.(115-117)tCt>tGt	p.S39C	FGD6_ENST00000549499.1_Missense_Mutation_p.S39C|FGD6_ENST00000546711.1_Missense_Mutation_p.S39C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	39					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGGAACACTAGAAATCACAAT	0.483000													90	253					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768368	31768368	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:31768368G>A	ENST00000240587.4	-	2	2658	c.2331C>T	c.(2329-2331)ctC>ctT	p.L777L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	777					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AATAGCGGTCGAGGTGGTCTG	0.567000													31	38					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006853	8006853	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:8006853C>T	ENST00000344293.5	+	3	1586	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	460					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CCTCAAGTTCCGATAACTCAT	0.478000													33	169					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47869281	47869281	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:47869281G>C	ENST00000259021.4	+	2	329	c.49G>C	c.(49-51)Gat>Cat	p.D17H	KAT7_ENST00000454930.2_Missense_Mutation_p.D17H|KAT7_ENST00000424009.2_Missense_Mutation_p.D17H|KAT7_ENST00000509773.1_Missense_Mutation_p.D17H|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.D17H|KAT7_ENST00000435742.2_5'UTR	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	17	Ser-rich.				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TGGAACCGAAGATTCCGATTT	0.463000													9	201					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148731031	148731031	+	Silent	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:148731031C>A	ENST00000392857.5	-	3	227	c.120G>T	c.(118-120)gtG>gtT	p.V40V	ORC4_ENST00000392858.1_Silent_p.V40V|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000535373.1_Silent_p.V40V|ORC4_ENST00000264169.2_Silent_p.V40V	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						ATTGTACTTGCACTCCAAATA	0.313000													18	75					2.89027e-11	3.01261e-11	1	1	0
ACTBL2	345651	broad.mit.edu	37	5	56777442	56777442	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:56777442C>T	ENST00000423391.1	-	1	1194	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	365						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGACCAGCCTCATCATATTCC	0.488000													71	7					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109940840	109940840	+	Missense_Mutation	SNP	G	G	A	rs141849006		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:109940840G>A	ENST00000342494.3	+	14	1890	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.R432H|UBE3B_ENST00000434735.2_Missense_Mutation_p.R432H	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	432					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCCTAAAGCGTGCTTTTCAA	0.507000													4	173					0	0	1	0	0
GATSL3	652968	broad.mit.edu	37	22	30685455	30685455	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr22:30685455C>G	ENST00000407689.3	-	1	161	c.32G>C	c.(31-33)cGg>cCg	p.R11P	GATSL3_ENST00000404953.3_Missense_Mutation_p.R11P|RP1-130H16.18_ENST00000447976.1_Intron	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						GCTCAGCACCCGCACCCGGTG	0.746000													33	16					0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162344334	162344334	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:162344334G>A	ENST00000367935.5	-	3	369	c.290C>T	c.(289-291)tCc>tTc	p.S97F	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111											central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GCTGTAGGGGGAGAACCAGGG	0.577000													197	22					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144462027	144462027	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:144462027G>A	ENST00000289013.6	+	9	1075	c.974G>A	c.(973-975)cGg>cAg	p.R325Q		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	325	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTAGTGCACCGGACCATGGCC	0.667000													3	31					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018724	1018724	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:1018724C>T	ENST00000421673.2	-	31	4127	c.4077G>A	c.(4075-4077)acG>acA	p.T1359T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1359	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGGCCTGTCGTCTGGGTGG	0.547000													113	14					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242430954	242430954	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:242430954G>C	ENST00000264042.3	+	24	2817	c.2647G>C	c.(2647-2649)Gag>Cag	p.E883Q		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	883					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGTATCTCTGGAGCAGGAGTC	0.617000													15	37					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376405	15376405	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:15376405C>T	ENST00000263377.2	-	5	830	c.609G>A	c.(607-609)tcG>tcA	p.S203S	BRD4_ENST00000371835.4_Silent_p.S203S|BRD4_ENST00000360016.5_Silent_p.S203S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	203					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCGGAGGAGTCGATGCTTGAG	0.577000			T	C15orf55	lethal midline carcinoma of young people								143	259					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350808	146350808	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:146350808C>T	ENST00000392299.2	+	2	625	c.155C>T	c.(154-156)tCa>tTa	p.S52L	GRM1_ENST00000492807.2_Missense_Mutation_p.S52L|GRM1_ENST00000361719.2_Missense_Mutation_p.S52L|GRM1_ENST00000355289.4_Missense_Mutation_p.S52L|GRM1_ENST00000282753.1_Missense_Mutation_p.S52L|GRM1_ENST00000507907.1_Missense_Mutation_p.S52L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	52					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCCTCTTCTCAGTCCATCAC	0.612000													37	84					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356372	149356372	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:149356372C>G	ENST00000355292.3	-	2	2003	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L	NR3C2_ENST00000358102.3_Silent_p.L547L|NR3C2_ENST00000511528.1_Silent_p.L547L|NR3C2_ENST00000512865.1_Silent_p.L547L|NR3C2_ENST00000344721.4_Silent_p.L547L			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	547	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GAAAGGAACTCAGGTGTTGGA	0.458000													34	48					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042567	73042567	+	RNA	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:73042567G>A	ENST00000604411.1	+	0	30528				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTTTGGAGCAGATATATTTCA	0.343000													9	12					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32308790	32308790	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:32308790G>C	ENST00000302418.4	-	20	2759	c.2302C>G	c.(2302-2304)Ctt>Gtt	p.L768V	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	768					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ACTCACGTAAGTTCATGTAGT	0.333000			T	"""RET, ALK"""	NSCLC								45	134					0	0	1	0	0
H3F3C	440093	broad.mit.edu	37	12	31944704	31944704	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:31944704C>T	ENST00000340398.3	-	1	471	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	133					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TAAGCTCTCTCTCCCCGTATC	0.413000										HNSCC(67;0.2)			42	117					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372341	175372341	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:175372341C>T	ENST00000367674.2	-	4	1619	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	TNR_ENST00000263525.2_Missense_Mutation_p.R304Q			Q92752	TENR_HUMAN	tenascin R		Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACATTGTCCTCGCCCACTGCA	0.617000													82	10					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414705	46414705	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:46414705G>A	ENST00000343801.4	+	3	669	c.312G>A	c.(310-312)ttG>ttA	p.L104L	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.L104L|CCR5_ENST00000292303.4_Silent_p.L104L	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	104					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GTCAACTCTTGACAGGGCTCT	0.473000													150	13					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			45	3					0	0	1	0	0
RNF41	10193	broad.mit.edu	37	12	56600239	56600239	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:56600239C>T	ENST00000345093.4	-	7	1315	c.946G>A	c.(946-948)Gag>Aag	p.E316K	RNF41_ENST00000552656.1_Missense_Mutation_p.E316K|RNF41_ENST00000394013.2_Missense_Mutation_p.E245K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	316					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTTATATCTCTTCCACGCCA	0.502000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	89	171					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44486569	44486569	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:44486569C>T	ENST00000255152.2	+	1	314	c.105C>T	c.(103-105)tcC>tcT	p.S35S	ZSWIM3_ENST00000454862.2_5'UTR	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	35							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACTGCGTCTCCGTCCGCTTCC	0.612000													66	145					0	0	1	0	0
NDUFAB1	4706	broad.mit.edu	37	16	23596724	23596724	+	Silent	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:23596724A>G	ENST00000570319.1	-	3	312	c.312T>C	c.(310-312)ttT>ttC	p.F104F	NDUFAB1_ENST00000007516.3_Silent_p.F104F			O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa	104					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding			endometrium(1)|large_intestine(1)|lung(1)	3				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	GGTCTTTCATAAAATGAGAAT	0.423000													7	60					0	0	1	0	0
RNPC3	55599	broad.mit.edu	37	1	104093574	104093574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:104093574G>A	ENST00000533099.1	+	14	1609	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H	RNPC3_ENST00000524631.1_Missense_Mutation_p.R457H|RNPC3_ENST00000423855.2_Missense_Mutation_p.R458H			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	458	RRM 2.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TTTGATATACGTTTGATGAAA	0.333000													17	44					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993868	176993868	+	Splice_Site	SNP	A	A	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:176993868A>T	ENST00000367654.3	-	6	1332	c.1121T>A	c.(1120-1122)gTg>gAg	p.V374E	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Splice_Site_p.V374E|ASTN1_ENST00000367657.3_Splice_Site_p.V374E|ASTN1_ENST00000424564.2_Splice_Site_p.V374E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGAGAACCCACTGAAAGTGA	0.502000													23	13					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77439819	77439819	+	Splice_Site	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:77439819A>G	ENST00000322886.7	-	5	1063	c.828T>C	c.(826-828)tcT>tcC	p.S276S	E2F7_ENST00000416496.2_Splice_Site_p.S276S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	276					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGGACTCACAAGAGGGACAGT	0.438000													3	90					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128240	68128240	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:68128240C>T	ENST00000585558.1	+	4	505	c.117C>T	c.(115-117)taC>taT	p.Y39Y	KCNJ16_ENST00000392670.1_Silent_p.Y4Y|KCNJ16_ENST00000392671.1_Silent_p.Y4Y|KCNJ16_ENST00000586462.1_Silent_p.Y43Y|KCNJ16_ENST00000589377.1_Silent_p.Y4Y|KCNJ16_ENST00000283936.1_Silent_p.Y4Y			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	4					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGAGCTATTACGGCAGCAGCT	0.428000													32	47					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85437217	85437217	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:85437217C>A	ENST00000359152.5	-	1	1854	c.1855G>T	c.(1855-1857)Gtg>Ttg	p.V619L	SYTL2_ENST00000354566.3_Missense_Mutation_p.V95L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.V95L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	143	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTGGTAGCACCTGGAGTATG	0.378000													36	93					2.04263e-09	2.1013e-09	1	1	0
CD101	9398	broad.mit.edu	37	1	117568524	117568524	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:117568524C>T	ENST00000256652.4	+	8	2880	c.2822C>T	c.(2821-2823)tCa>tTa	p.S941L	CD101_ENST00000369470.1_Missense_Mutation_p.S941L|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	941					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGCTGCCTTCAGGTAACCAG	0.527000													19	61					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43316384	43316384	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:43316384C>T	ENST00000331495.3	+	11	1368	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.V344V|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	344	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						ACTTCCGTGTCTTCCTGCAAT	0.542000													18	61					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120351137	120351137	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:120351137C>T	ENST00000397843.2	+	38	4401	c.4235C>T	c.(4234-4236)tCa>tTa	p.S1412L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1309L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1393L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1412					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTACGCATCTCAGGCAAGTAT	0.378000			T	MLL	AML								19	55					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823262	47823262	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:47823262C>T	ENST00000355085.3	+	2	250	c.228C>T	c.(226-228)ctC>ctT	p.L76L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	76					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCTGGTTCCTCAACTTGGCGG	0.607000													35	34					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1060513	1060513	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:1060513C>G	ENST00000264930.5	-	21	2836	c.2793G>C	c.(2791-2793)caG>caC	p.Q931H		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	931					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTGCGACCTCTGCTCCATCA	0.532000													75	53					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158637080	158637080	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:158637080T>C	ENST00000263640.3	-	4	529	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	ACVR1_ENST00000434821.1_Missense_Mutation_p.M34V|ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000409283.2_Missense_Mutation_p.M34V|ACVR1_ENST00000410057.2_Missense_Mutation_p.M34V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	34					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CACACACACATGTAGAGTTTG	0.468000													34	71					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87020654	87020654	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:87020654C>G	ENST00000340353.7	+	9	1012	c.810C>G	c.(808-810)ttC>ttG	p.F270L	TMEM135_ENST00000532959.1_Missense_Mutation_p.F163L|TMEM135_ENST00000305494.5_Missense_Mutation_p.F292L|TMEM135_ENST00000535167.1_Missense_Mutation_p.F153L	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	292						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTCTCTCTTCTACAATAAAG	0.403000													34	65					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19371166	19371166	+	Silent	SNP	G	G	C	rs61735928	byFrequency	TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr22:19371166G>C	ENST00000263208.5	-	13	1648	c.1392C>G	c.(1390-1392)ctC>ctG	p.L464L	HIRA_ENST00000541063.1_Silent_p.L420L|HIRA_ENST00000546308.1_Silent_p.L420L|HIRA_ENST00000340170.4_Silent_p.L464L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	464	Interaction with ASF1A.|Interaction with CCNA1.|Required for repression of histone gene transcription.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTGCTATGCAGAGAGGCGTGA	0.453000													32	88					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35990197	35990197	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:35990197C>T	ENST00000349699.2	-	5	653	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	DDX52_ENST00000394367.3_Missense_Mutation_p.E96K	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	204	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCCAGAAGTTCCCGACCCTAA	0.373000													48	27					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36437687	36437687	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:36437687C>G	ENST00000373191.4	+	4	724	c.375C>G	c.(373-375)atC>atG	p.I125M	AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000397828.2_Missense_Mutation_p.I125M|AGO3_ENST00000324350.5_Missense_Mutation_p.I125M	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AGGTGTCAATCAAATTTGTCT	0.453000													37	18					0	0	1	0	0
PAICS	10606	broad.mit.edu	37	4	57302427	57302427	+	Splice_Site	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:57302427G>C	ENST00000514888.1	+	2	188		c.e2-1		PAICS_ENST00000512576.1_5'UTR|PAICS_ENST00000264221.2_Splice_Site|PAICS_ENST00000399688.3_5'UTR			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	CTCTTTTCTAGAGTTCTGCCT	0.647000													3	4					0	0	1	0	0
DAZAP2	9802	broad.mit.edu	37	12	51639913	51639913	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:51639913G>C	ENST00000425012.2	+	4	529	c.447G>C	c.(445-447)agG>agC	p.R149S	SMAGP_ENST00000603864.1_Intron|SMAGP_ENST00000398453.3_Intron|SMAGP_ENST00000605627.1_Intron|SMAGP_ENST00000603798.1_Intron|DAZAP2_ENST00000604900.1_Intron	NM_001136269.1	NP_001129741.1	Q15038	DAZP2_HUMAN	DAZ associated protein 2	0							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						ACTTGGAAAGGAGAGGGAAAA	0.428000													25	72					0	0	1	0	0
CSNK2B	1460	broad.mit.edu	37	6	31637213	31637213	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:31637213G>A	ENST00000375880.2	+	6	603	c.485G>A	c.(484-486)gGt>gAt	p.G162D	CSNK2B_ENST00000375865.2_Missense_Mutation_p.G162D|CSNK2B_ENST00000375882.2_Missense_Mutation_p.G162D|CSNK2B_ENST00000375885.4_Missense_Mutation_p.G181D|CSNK2B_ENST00000375866.2_Missense_Mutation_p.G162D																							TTCGGCACTGGTTTCCCTCAC	0.557000													42	97					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594115	30594115	+	Silent	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:30594115G>C	ENST00000395216.2	-	3	1143	c.984C>G	c.(982-984)ctC>ctG	p.L328L	ZNF785_ENST00000470110.1_Silent_p.L313L|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GCCGGTGACTGAGGAGGAGGG	0.647000													37	31					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729357	116729357	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:116729357G>C	ENST00000375300.1	-	20	2685	c.2680C>G	c.(2680-2682)Ctg>Gtg	p.L894V	SIK3_ENST00000488337.1_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.L836V|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	836	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCCGAAAACAGATGGGGGTGT	0.547000													91	103					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949440	131949440	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:131949440G>A	ENST00000286355.5	-	5	3452	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	ADCY8_ENST00000377928.3_Missense_Mutation_p.H454Y|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	454					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGAAGGCAGTGATGCTCCTGG	0.522000										HNSCC(32;0.087)			27	9					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100253137	100253137	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:100253137C>G	ENST00000160382.5	-	3	281	c.175G>C	c.(175-177)Gag>Cag	p.E59Q		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	59	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTTTCTTCTCTTTGTCCCCC	0.627000													28	74					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33654251	33654251	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:33654251C>T	ENST00000374316.5	+	44	6994	c.5934C>T	c.(5932-5934)atC>atT	p.I1978I	ITPR3_ENST00000605930.1_Silent_p.I1978I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1978					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCAATGACATCAGCCCCCTGT	0.582000													18	60					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4448566	4448566	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:4448566C>T	ENST00000254718.4	-	16	2454	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	MYBBP1A_ENST00000381556.2_Silent_p.L716L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	716					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTGCACCCTTCAGCCGCCGCT	0.657000													81	10					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877426	10877426	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:10877426G>A	ENST00000379491.4	-	2	437	c.290C>T	c.(289-291)tCc>tTc	p.S97F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	97					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTGCAGGCGGGAACCGTCGGG	0.612000													39	92					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70231669	70231669	+	Silent	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:70231669G>T	ENST00000399180.2	-	1	210	c.211C>A	c.(211-213)Cgg>Agg	p.R71R	DNA2_ENST00000358410.3_5'UTR|DNA2_ENST00000399179.2_5'UTR			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	0					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGCGGAACCGGGGGTAACAC	0.577000													70	8					2.165e-29	2.36291e-29	1	1	0
NBAS	51594	broad.mit.edu	37	2	15467991	15467991	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:15467991C>G	ENST00000281513.5	-	38	4490	c.4465G>C	c.(4465-4467)Gaa>Caa	p.E1489Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E1369Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1489										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGGTCCCTTCAGACTACACA	0.388000													52	116					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17083185	17083185	+	Silent	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:17083185A>G	ENST00000377833.4	-	27	3929	c.3864T>C	c.(3862-3864)taT>taC	p.Y1288Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1288	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTAAGATGCCATAGGTTTGAT	0.388000													37	141					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125450271	125450271	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:125450271C>G	ENST00000308736.2	-	13	1776	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	DHX37_ENST00000544745.1_Missense_Mutation_p.E347Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	560	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGGCCCCCTCTTCCTCATCC	0.592000													23	49					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82372889	82372889	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:82372889C>T	ENST00000370728.1	+	6	906	c.261C>T	c.(259-261)ccC>ccT	p.P87P	LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000335786.5_Silent_p.P87P|LPHN2_ENST00000370713.1_Silent_p.P87P|LPHN2_ENST00000370725.1_Silent_p.P87P|LPHN2_ENST00000359929.3_Silent_p.P87P|LPHN2_ENST00000394879.1_Silent_p.P87P|LPHN2_ENST00000370723.1_Silent_p.P87P|LPHN2_ENST00000370730.1_Silent_p.P87P|LPHN2_ENST00000370717.2_Silent_p.P87P|LPHN2_ENST00000271029.4_Silent_p.P87P|LPHN2_ENST00000370727.1_Silent_p.P87P|LPHN2_ENST00000370721.1_Silent_p.P87P|LPHN2_ENST00000370715.1_Silent_p.P87P|LPHN2_ENST00000319517.6_Silent_p.P87P			O95490	LPHN2_HUMAN	latrophilin 2	87	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTACCTCCCCGATGCCTTCA	0.378000													27	102					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20455916	20455916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:20455916C>A	ENST00000361078.2	-	16	2528	c.2506G>T	c.(2506-2508)Gag>Tag	p.E836*	PUM2_ENST00000536417.1_Nonsense_Mutation_p.E778*|PUM2_ENST00000319801.5_Nonsense_Mutation_p.E757*|PUM2_ENST00000403432.1_Nonsense_Mutation_p.E834*|PUM2_ENST00000338086.5_Nonsense_Mutation_p.E834*			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	836	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCAGCTCCTTTACCATT	0.328000													36	110					1.42033e-22	1.52899e-22	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72667332	72667332	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:72667332G>C	ENST00000261180.4	+	1	870	c.774G>C	c.(772-774)gaG>gaC	p.E258D	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	258					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCCACGGGGAGAGAAGGTATG	0.642000													73	56					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536002	186536002	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:186536002C>G	ENST00000431808.1	-	18	3429	c.2866G>C	c.(2866-2868)Gag>Cag	p.E956Q	SORBS2_ENST00000355634.5_Missense_Mutation_p.E1056Q|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.E956Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.E587Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.E522Q|SORBS2_ENST00000418609.1_Missense_Mutation_p.E860Q|SORBS2_ENST00000449407.2_Missense_Mutation_p.E500Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.E680Q|SORBS2_ENST00000448662.2_Missense_Mutation_p.E517Q			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	956	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGTGACAGCTCCACATTTGTG	0.448000													35	43					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51879664	51879664	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:51879664C>G	ENST00000453097.2	+	17	2483	c.2266C>G	c.(2266-2268)Caa>Gaa	p.Q756E	SLC4A8_ENST00000358657.3_Missense_Mutation_p.Q783E	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	756					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCAAAGCTTCAAGTTCCCAG	0.403000													28	75					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75761208	75761208	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr15:75761208C>G	ENST00000306726.2	-	13	2196	c.1684G>C	c.(1684-1686)Gag>Cag	p.E562Q		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	562	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGTACTGCTCAGGGGTCTGG	0.562000													28	52					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86254603	86254603	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:86254603G>A	ENST00000263857.6	-	34	5484	c.5106C>T	c.(5104-5106)gtC>gtT	p.V1702V	POLR1A_ENST00000409681.1_Silent_p.V1641V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1702					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CGACCTTCCCGACCACAAGGC	0.572000													118	72					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7214768	7214768	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:7214768G>C	ENST00000336458.8	+	4	771	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	EIF5A_ENST00000571955.1_Missense_Mutation_p.E124Q|EIF5A_ENST00000336452.7_Missense_Mutation_p.E154Q|EIF5A_ENST00000572815.1_Missense_Mutation_p.E124Q|EIF5A_ENST00000573542.1_Missense_Mutation_p.E124Q|EIF5A_ENST00000576930.1_Missense_Mutation_p.E124Q|EIF5A_ENST00000419711.2_Missense_Mutation_p.E124Q|EIF5A_ENST00000416016.2_Missense_Mutation_p.E124Q|GPS2_ENST00000391950.3_3'UTR	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	124					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CAAGGAGATTGAGCAGAAGTA	0.547000													101	12					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547730	15547730	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:15547730C>T	ENST00000389282.4	-	4	2696	c.2483G>A	c.(2482-2484)cGa>cAa	p.R828Q	WIZ_ENST00000263381.7_Missense_Mutation_p.R139Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	828						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCCAGGCTCTCGGCCCAGGGG	0.672000													26	80					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918698	66918698	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:66918698G>C	ENST00000311765.2	+	2	845	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	171					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCAGACCCTGGAGCACATGGA	0.542000													29	30					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28666625	28666625	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr18:28666625C>A	ENST00000280904.6	-	7	1299	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W	DSC2_ENST00000251081.6_Missense_Mutation_p.G286W	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	286	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGCACCTGCCCAATGATGGAG	0.473000													4	108					2.56e-06	2.5929e-06	1	1	0
SZT2	23334	broad.mit.edu	37	1	43891820	43891820	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:43891820G>A	ENST00000562955.1	+	21	3041	c.3041G>A	c.(3040-3042)aGa>aAa	p.R1014K	SZT2_ENST00000372442.1_Missense_Mutation_p.R172K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1071						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTGCTTGCCAGAGGTAGGTGA	0.507000													15	30					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097403	220097403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:220097403C>T	ENST00000323348.5	+	5	730	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	ANKZF1_ENST00000409849.1_5'UTR|ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.Q186*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	186						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCCCTCATCAGGCAAGTGA	0.522000													46	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594206	179594206	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:179594206G>C	ENST00000589042.1	-	64	18901	c.18677C>G	c.(18676-18678)cCt>cGt	p.P6226R	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5909R|TTN_ENST00000342992.6_Missense_Mutation_p.P4982R|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5909	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAACGGAGGTGTTCCCGT	0.438000													71	47					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8402695	8402695	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:8402695C>G	ENST00000360416.3	-	30	3982	c.3844G>C	c.(3844-3846)Gag>Cag	p.E1282Q	MYH10_ENST00000396239.1_Missense_Mutation_p.E1272Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1251Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1267Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1251					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCTTGTGCTCAGACTCAGCC	0.557000													33	61					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939551	6939551	+	RNA	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:6939551G>A	ENST00000251761.8	+	0	719				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CTACTGGGGCGCCAGGAGGCA	0.632000													3	9					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379922	61379922	+	RNA	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr18:61379922C>G	ENST00000544088.1	+	0	414				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GATGGCATTTCATCAGGTAAG	0.438000													30	50					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357989	10357989	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:10357989T>G	ENST00000255381.2	-	22	2684	c.2574A>C	c.(2572-2574)gaA>gaC	p.E858D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	858					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCAAATTCTTCCTTCATGT	0.433000													37	62					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16478159	16478159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:16478159G>T	ENST00000306320.9	-	7	943	c.857C>A	c.(856-858)tCa>tAa	p.S286*	FAM134B_ENST00000399793.2_Nonsense_Mutation_p.S145*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	286					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ACAAAGAGCTGAAAAGTCTAA	0.348000													13	12					2.32078e-09	2.38122e-09	1	1	0
CUBN	8029	broad.mit.edu	37	10	16878250	16878250	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:16878250G>A	ENST00000377833.4	-	63	10229	c.10164C>T	c.(10162-10164)ttC>ttT	p.F3388F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3388	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGATAGGTGAAACTCATTC	0.358000													5	75					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23530519	23530519	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:23530519T>C	ENST00000262710.1	-	17	3913	c.3586A>G	c.(3586-3588)Agt>Ggt	p.S1196G	ACIN1_ENST00000555053.1_Missense_Mutation_p.S1183G|ACIN1_ENST00000605057.1_Missense_Mutation_p.S1138G|ACIN1_ENST00000457657.1_Missense_Mutation_p.S1156G|ACIN1_ENST00000357481.2_Missense_Mutation_p.S438G|ACIN1_ENST00000557515.1_Missense_Mutation_p.S437G|ACIN1_ENST00000397341.3_Missense_Mutation_p.S438G|ACIN1_ENST00000338631.6_Missense_Mutation_p.S469G	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1196	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTCTTCTCACTCTTCTTTTCT	0.542000													111	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425247	179425247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:179425247C>A	ENST00000589042.1	-	326	85836	c.85612G>T	c.(85612-85614)Gag>Tag	p.E28538*	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E19598*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E19665*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E26897*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E25970*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E19473*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26897	Ig-like 132.		R -> H.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTACACTCTCTAGGGGCTCA	0.383000													14	22					1.49906e-05	1.51443e-05	1	1	0
DNAJB12	54788	broad.mit.edu	37	10	74114687	74114687	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:74114687G>A	ENST00000338820.3	-	1	220	c.71C>T	c.(70-72)tCc>tTc	p.S24F	DNAJB12_ENST00000394903.2_Missense_Mutation_p.S24F|DNAJB12_ENST00000444643.2_5'UTR	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	0					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						CAGGGAGGGGGAGGCCGGGCG	0.667000													75	2					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924865	4924865	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:4924865G>A	ENST00000396658.4	+	14	3157	c.2454G>A	c.(2452-2454)acG>acA	p.T818T	UBN1_ENST00000590769.1_Silent_p.T818T|UBN1_ENST00000262376.6_Silent_p.T818T|UBN1_ENST00000545171.1_Silent_p.T818T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	818					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.T818T(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAACTTCACGCCCCCATCTC	0.582000													49	73					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285470	62285470	+	Silent	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:62285470G>C	ENST00000378024.4	-	5	16693	c.16419C>G	c.(16417-16419)ggC>ggG	p.G5473G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5473	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACAGTGGGGCCTTTGATCT	0.522000													52	70					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74300722	74300722	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:74300722A>C	ENST00000377044.4	-	23	4431	c.3892T>G	c.(3892-3894)Tta>Gta	p.L1298V	TMEM2_ENST00000377066.5_Missense_Mutation_p.L1235V|TMEM2_ENST00000396272.3_Missense_Mutation_p.L291V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1298						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAAATGTTTAACTGCTTTATT	0.363000													18	36					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78092119	78092119	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:78092119G>A	ENST00000302262.3	+	18	2828	c.2609G>A	c.(2608-2610)cGa>cAa	p.R870Q	GAA_ENST00000390015.3_Missense_Mutation_p.R870Q	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	870					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GTGCTGGAGCGAGGGGCCTAC	0.677000													80	99					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76741958	76741958	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:76741958C>G	ENST00000393262.3	-	1	264	c.181G>C	c.(181-183)Gag>Cag	p.E61Q		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	61					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATGGGATGCTCTAAGTGTAGC	0.647000									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	41					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554318	20554318	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:20554318G>C	ENST00000329697.6	-	12	1595	c.1427C>G	c.(1426-1428)tCg>tGg	p.S476W	ACSM2B_ENST00000567001.1_Missense_Mutation_p.S476W|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S476W|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S397W	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	476					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTCTACCTCCGAGGGTCCAAT	0.567000													36	57					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43776467	43776467	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:43776467C>G	ENST00000405006.4	-	20	3339	c.2988G>C	c.(2986-2988)caG>caC	p.Q996H	THADA_ENST00000415080.2_Missense_Mutation_p.Q706H|THADA_ENST00000330266.7_Missense_Mutation_p.Q706H|THADA_ENST00000405975.2_Missense_Mutation_p.Q996H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	996							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCTCGAGGCTGAATCTCAT	0.383000													5	12					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30008847	30008847	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr15:30008847C>T	ENST00000346128.6	-	23	4644	c.4170G>A	c.(4168-4170)caG>caA	p.Q1390Q	TJP1_ENST00000545208.2_Silent_p.Q1310Q|TJP1_ENST00000400011.2_Silent_p.Q1314Q|TJP1_ENST00000356107.6_Silent_p.Q1390Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1390					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTGATTGATTCTGAGAATGCG	0.403000													4	43					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884261	64884261	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:64884261C>G	ENST00000310597.4	-	1	909	c.865G>C	c.(865-867)Gag>Cag	p.E289Q		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	289							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGGCGACCTCGTGCATAGCC	0.706000													25	63					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22475874	22475874	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:22475874G>A	ENST00000308511.4	+	17	2335	c.2086G>A	c.(2086-2088)Gat>Aat	p.D696N	CCAR2_ENST00000389279.3_Missense_Mutation_p.D696N|CCAR2_ENST00000520861.1_Missense_Mutation_p.D371N					cell cycle and apoptosis regulator 2	696																	CAAGGAGCTGGATCCCTCTGC	0.512000													211	22					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584546	189584546	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:189584546C>G	ENST00000264731.3	+	6	931	c.842C>G	c.(841-843)aCa>aGa	p.T281R	TP63_ENST00000449992.1_Missense_Mutation_p.T102R|TP63_ENST00000456148.1_Missense_Mutation_p.T187R|TP63_ENST00000418709.2_Missense_Mutation_p.T281R|TP63_ENST00000392460.3_Missense_Mutation_p.T281R|TP63_ENST00000437221.1_Missense_Mutation_p.T187R|TP63_ENST00000392463.2_Missense_Mutation_p.T187R|TP63_ENST00000354600.5_Missense_Mutation_p.T187R|TP63_ENST00000440651.2_Missense_Mutation_p.T281R|TP63_ENST00000382063.4_Missense_Mutation_p.T196R|TP63_ENST00000392461.3_Missense_Mutation_p.T187R|TP63_ENST00000320472.5_Missense_Mutation_p.T281R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	281					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)		GATCCCATCACAGGAAGACAG	0.453000										HNSCC(45;0.13)			20	108					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766435	57766435	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:57766435C>G	ENST00000371030.2	+	1	361	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	121						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTGGGCACTCTGCCTGTCCT	0.692000													17	50					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835171	82835171	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:82835171G>C	ENST00000265077.3	+	8	6914	c.6349G>C	c.(6349-6351)Gag>Cag	p.E2117Q	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1130Q|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2117	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACAACATCAGAGGAACAAAT	0.368000													33	48					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7365729	7365729	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:7365729T>C	ENST00000502583.1	-	9	2729	c.2165A>G	c.(2164-2166)cAc>cGc	p.H722R	CAGE1_ENST00000379918.4_Missense_Mutation_p.H700R|CAGE1_ENST00000512086.1_Missense_Mutation_p.H695R|CAGE1_ENST00000296742.7_Missense_Mutation_p.H559R|CAGE1_ENST00000338150.4_Missense_Mutation_p.H722R	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	695										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATTTAGACTGTGGTACTTATC	0.343000													11	24					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045398	76045398	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:76045398C>G	ENST00000238667.4	+	1	439	c.83C>G	c.(82-84)tCg>tGg	p.S28W	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	28	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGCGTCTCGGTCCATCCC	0.642000													123	75					0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114483106	114483106	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:114483106C>G	ENST00000245680.2	-	12	1512	c.1099G>C	c.(1099-1101)Ggt>Cgt	p.G367R	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	367					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTAAACAAACCTACAAAACCT	0.299000													21	36					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599644	116599644	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:116599644G>A	ENST00000395715.3	-	5	2861	c.2284C>T	c.(2284-2286)Ctg>Ttg	p.L762L	TRPS1_ENST00000520276.1_Silent_p.L753L|TRPS1_ENST00000220888.5_Silent_p.L749L|TRPS1_ENST00000519076.1_Silent_p.L503L|TRPS1_ENST00000519674.1_Silent_p.L749L	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	749	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGTTAGCAGATTGTAGACC	0.498000									Langer-Giedion syndrome				199	100					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4616015	4616015	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:4616015G>A	ENST00000450052.2	+	2	819	c.819G>A	c.(817-819)gtG>gtA	p.V273V	OR52I1_ENST00000530443.2_Silent_p.V249V			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCCCATGTGGGGGTTATGG	0.498000													90	13					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31938207	31938207	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:31938207C>T	ENST00000375349.3	-	5	1272	c.861G>A	c.(859-861)ccG>ccA	p.P287P	DXO_ENST00000337523.5_Silent_p.P287P|DXO_ENST00000375356.3_Silent_p.P287P|DXO_ENST00000478221.1_5'UTR					decapping exoribonuclease	287																	CAACAACATTCGGGACCCCTG	0.517000													38	87					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212560363	212560363	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:212560363G>C	ENST00000261455.4	-	3	350	c.213C>G	c.(211-213)atC>atG	p.I71M	TMEM206_ENST00000535273.1_Missense_Mutation_p.I132M|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	71						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GGTAGATGAAGATGAGTAGGA	0.537000													56	117					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202260143	202260143	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:202260143C>G	ENST00000332624.3	-	8	1222	c.794G>C	c.(793-795)aGa>aCa	p.R265T	TRAK2_ENST00000430254.1_Missense_Mutation_p.R265T	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	265						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TTCAGTCATTCTGGACATCTG	0.368000													66	162					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632882	143632882	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:143632882G>T	ENST00000408955.2	+	1	624	c.557G>T	c.(556-558)aGg>aTg	p.R186M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCTGTGGTCAGGCTGGCTTGT	0.483000													35	61					1.22384e-17	1.30675e-17	1	1	0
SLC45A1	50651	broad.mit.edu	37	1	8384398	8384398	+	Silent	SNP	C	C	T	rs138622022	byFrequency	TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:8384398C>T	ENST00000471889.1	+	2	394	c.9C>T	c.(7-9)ccC>ccT	p.P3P	SLC45A1_ENST00000377479.2_Silent_p.P37P|SLC45A1_ENST00000289877.8_Silent_p.P3P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	3					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGATCCCCGCAGCCAGCA	0.657000													56	155					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10822943	10822943	+	Silent	SNP	G	G	A	rs146967568		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:10822943G>A	ENST00000250237.5	+	6	763	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	251					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTCGGCTGCCGAAGGACAAGC	0.637000													25	67					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152676018	152676018	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:152676018C>T	ENST00000367255.5	-	67	11303	c.10702G>A	c.(10702-10704)Gag>Aag	p.E3568K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E3539K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3568K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3575K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3575K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3568					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCGGTCCTCTGCCTGTGGG	0.552000										HNSCC(10;0.0054)			66	177					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49288682	49288682	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr15:49288682C>T	ENST00000559471.1	-	17	2768	c.2505G>A	c.(2503-2505)aaG>aaA	p.K835K	SECISBP2L_ENST00000261847.3_Silent_p.K790K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	835										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTCACATTCTTTAAGGCTT	0.448000													97	83					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967728	21967728	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:21967728C>T	ENST00000298717.4	-	8	1511	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	454					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CAAATAATTTCATCTACCCGT	0.428000													124	64					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123102928	123102928	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:123102928G>A	ENST00000333479.7	+	58	6246	c.6069G>A	c.(6067-6069)caG>caA	p.Q2023Q	KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Silent_p.Q948Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2023					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTGTGATACAGATACCACTGC	0.378000													14	48					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82372890	82372890	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:82372890G>C	ENST00000370728.1	+	6	907	c.262G>C	c.(262-264)Gat>Cat	p.D88H	LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.D88H|LPHN2_ENST00000370713.1_Missense_Mutation_p.D88H|LPHN2_ENST00000370725.1_Missense_Mutation_p.D88H|LPHN2_ENST00000359929.3_Missense_Mutation_p.D88H|LPHN2_ENST00000394879.1_Missense_Mutation_p.D88H|LPHN2_ENST00000370723.1_Missense_Mutation_p.D88H|LPHN2_ENST00000370730.1_Missense_Mutation_p.D88H|LPHN2_ENST00000370717.2_Missense_Mutation_p.D88H|LPHN2_ENST00000271029.4_Missense_Mutation_p.D88H|LPHN2_ENST00000370727.1_Missense_Mutation_p.D88H|LPHN2_ENST00000370721.1_Missense_Mutation_p.D88H|LPHN2_ENST00000370715.1_Missense_Mutation_p.D88H|LPHN2_ENST00000319517.6_Missense_Mutation_p.D88H			O95490	LPHN2_HUMAN	latrophilin 2	88	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTACCTCCCCGATGCCTTCAA	0.378000													25	101					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46521581	46521581	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:46521581C>T	ENST00000262741.5	-	7	1516	c.827G>A	c.(826-828)cGt>cAt	p.R276H	PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R276H|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R322H|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R276H|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	276					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.R276H(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CTGCTCTAGACGCATTTTGCT	0.343000													17	59					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68624687	68624687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr15:68624687C>A	ENST00000423218.2	-	13	1650	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*	ITGA11_ENST00000315757.7_Nonsense_Mutation_p.E519*			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	519					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGTCTCAGCTCATAGACGTAC	0.612000													4	4					0.217242	0.217242	1	1	0
METTL22	79091	broad.mit.edu	37	16	8728937	8728937	+	Splice_Site	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:8728937G>A	ENST00000381920.3	+	4	813		c.e4+1		METTL22_ENST00000561758.1_Splice_Site|METTL22_ENST00000568967.1_Splice_Site	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22								methyltransferase activity			large_intestine(5)|lung(4)	9						TGGCAAGCAGGTGGGTAGGTC	0.602000													64	4					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5790543	5790543	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:5790543C>T	ENST00000328090.5	+	15	5784	c.5159C>T	c.(5158-5160)aCa>aTa	p.T1720I		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1720																	TCCAACACCACATCTTCTCTA	0.488000													49	63					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608887	84608887	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:84608887A>G	ENST00000344803.2	+	4	3549	c.3502A>G	c.(3502-3504)Agc>Ggc	p.S1168G		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAAGTCAGGAAGCTGCTCACT	0.408000													15	16					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102792872	102792872	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:102792872C>G	ENST00000262236.5	+	2	846	c.491C>G	c.(490-492)tCt>tGt	p.S164C	ZNF839_ENST00000559185.1_Missense_Mutation_p.S164C|ZNF839_ENST00000442396.2_Missense_Mutation_p.S280C|ZNF839_ENST00000558850.1_Missense_Mutation_p.S164C	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	164						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGTCAGATTCTGATGATTAC	0.448000													29	34					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146115409	146115409	+	Silent	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:146115409G>C	ENST00000292579.7	-	3	209	c.93C>G	c.(91-93)ctC>ctG	p.L31L	ZNF250_ENST00000342660.6_Silent_p.L26L|ZNF250_ENST00000417550.2_Silent_p.L26L|ZNF250_ENST00000543949.1_Silent_p.L31L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CATCCTGGGAGAGGAGCACAG	0.547000													20	25					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43865698	43865698	+	RNA	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:43865698C>T	ENST00000378009.4	+	0	1209				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GGGCGCCACTCATTGTTATGA	0.612000													10	15					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884163	64884163	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:64884163C>G	ENST00000310597.4	-	1	1007	c.963G>C	c.(961-963)cgG>cgC	p.R321R		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	321							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGCCTGTTTCCGGGCACGGC	0.642000													31	109					0	0	1	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519303	137519303	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:137519303G>A	ENST00000367739.4	-	7	1456	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	IFNGR1_ENST00000543628.1_Silent_p.L417L	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	445					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTACGGTTATGAGCTCTTGTC	0.403000													30	63					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50625365	50625365	+	Splice_Site	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:50625365C>T	ENST00000216373.5	-	11	2127		c.e11-1		SOS2_ENST00000555794.1_Splice_Site|SOS2_ENST00000543680.1_Splice_Site	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAATTGGGATCTGAAAAGGCA	0.328000													33	55					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69998222	69998222	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:69998222G>C	ENST00000352241.4	+	6	946	c.783G>C	c.(781-783)ttG>ttC	p.L261F	MITF_ENST00000394355.2_Missense_Mutation_p.L236F|MITF_ENST00000394351.3_Missense_Mutation_p.L154F|MITF_ENST00000531774.1_Missense_Mutation_p.L98F|MITF_ENST00000314589.5_Missense_Mutation_p.L245F|MITF_ENST00000328528.6_Missense_Mutation_p.L260F|MITF_ENST00000448226.2_Missense_Mutation_p.L261F|MITF_ENST00000314557.6_Missense_Mutation_p.L154F|MITF_ENST00000472437.1_Missense_Mutation_p.L209F	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	261	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CGGGAAACTTGATTGATCTTT	0.438000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						22	28					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31586146	31586146	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:31586146C>T	ENST00000389082.5	-	8	2313	c.2049G>A	c.(2047-2049)agG>agA	p.R683R	DENND5B_ENST00000354285.4_Silent_p.R705R|DENND5B_ENST00000306833.6_Silent_p.R718R|DENND5B_ENST00000536562.1_Silent_p.R718R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	683						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGCGTTCTTTCCTGCGCTGTG	0.473000													56	186					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6093264	6093264	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:6093264C>G	ENST00000217289.4	-	4	1180	c.392G>C	c.(391-393)aGa>aCa	p.R131T	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	131	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGATCTTCTAATATCTAG	0.274000													20	74					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783666	54783666	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:54783666G>A	ENST00000218436.6	-	8	2870	c.2841C>T	c.(2839-2841)ctC>ctT	p.L947L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	947	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GGGGACCCGGGAGGAGGTCAT	0.592000													40	0					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47677531	47677531	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:47677531C>T	ENST00000254480.5	-	23	2591	c.2472G>A	c.(2470-2472)gtG>gtA	p.V824V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	824	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TATCCTCACTCACTTCACTAT	0.333000													35	9					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496601	20496601	+	RNA	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr15:20496601C>G	ENST00000555186.1	+	0	654					NR_038836.1																						TTTCAGCCTTCTACTAGTCGA	0.453000													13	70					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58124062	58124062	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:58124062G>A	ENST00000357272.4	+	29	5080	c.4915G>A	c.(4915-4917)Gat>Aat	p.D1639N	FLNB_ENST00000358537.3_Missense_Mutation_p.D1639N|FLNB_ENST00000348383.5_Missense_Mutation_p.D1639N|FLNB_ENST00000490882.1_Missense_Mutation_p.D1670N|FLNB_ENST00000429972.2_Missense_Mutation_p.D1639N|FLNB_ENST00000493452.1_Missense_Mutation_p.D1470N|FLNB_ENST00000419752.2_Missense_Mutation_p.D1470N|FLNB_ENST00000295956.4_Missense_Mutation_p.D1639N			O75369	FLNB_HUMAN	filamin B, beta	1639					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTTTGTGGTTGATGCCAAGAC	0.527000													80	11					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727901	35727901	+	Silent	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:35727901C>A	ENST00000440995.2	+	21	3024	c.3024C>A	c.(3022-3024)gtC>gtA	p.V1008V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.V1013V			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1013					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAATGGGTCTATGTGAATG	0.428000													87	77					1.13884e-41	1.25336e-41	1	1	0
FAM81B	153643	broad.mit.edu	37	5	94756035	94756035	+	Silent	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:94756035T>C	ENST00000283357.5	+	5	631	c.585T>C	c.(583-585)acT>acC	p.T195T		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	195										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CCACAGGAACTAACTTTGCAG	0.398000													50	9					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027045	92027045	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:92027045G>C	ENST00000265742.3	+	19	2780	c.2404G>C	c.(2404-2406)Gaa>Caa	p.E802Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	802							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATATTCCAGAAGGCGGCAG	0.453000													295	19					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696521	20696521	+	Missense_Mutation	SNP	G	G	C	rs144518025		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:20696521G>C	ENST00000307493.4	-	2	464	c.397C>G	c.(397-399)Cga>Gga	p.R133G	ACSM1_ENST00000520010.1_Missense_Mutation_p.R133G|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	133					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGACCTGTTCGCATGCAGCCC	0.582000													60	6					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153766009	153766009	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:153766009C>T	ENST00000425427.2	+	7	1212	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000297107.6_Intron|GALNT10_ENST00000519544.1_Intron|SAP30L-AS1_ENST00000519727.1_RNA			Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	0	Catalytic subdomain B.					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)			GCTCTCCAGACGCCCCGTTCT	0.587000													15	20					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045452	76045452	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:76045452C>G	ENST00000238667.4	+	1	493	c.137C>G	c.(136-138)tCt>tGt	p.S46C	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	46	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGCGTCTCTGTCCACCCC	0.662000													171	84					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000862	142000862	+	RNA	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:142000862G>C	ENST00000455382.2	+	0	116																											TTAGTCTCTTGAAAGCAGGTC	0.448000													27	74					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032326	32032326	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:32032326G>C	ENST00000360311.4	+	2	2304	c.1755G>C	c.(1753-1755)agG>agC	p.R585S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CAAAACAAAGGAGAATTCATA	0.393000													5	8					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045480	62045480	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:62045480G>A	ENST00000578147.1	-	6	1015	c.939C>T	c.(937-939)taC>taT	p.Y313Y	SCN4A_ENST00000435607.1_Silent_p.Y313Y			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	313					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTCATTGCCGTACCACATCT	0.542000													5	352					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263232	42263232	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr22:42263232G>A	ENST00000361204.4	+	2	652	c.486G>A	c.(484-486)acG>acA	p.T162T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	162	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCCGCAGACGAGGATCATCC	0.493000													54	54					0	0	1	0	0
NEIL2	252969	broad.mit.edu	37	8	11643679	11643679	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:11643679A>C	ENST00000284503.6	+	5	1495	c.896A>C	c.(895-897)aAg>aCg	p.K299T	NEIL2_ENST00000528323.1_Missense_Mutation_p.K183T|NEIL2_ENST00000403422.3_Missense_Mutation_p.K238T|NEIL2_ENST00000436750.3_Missense_Mutation_p.K299T|NEIL2_ENST00000455213.2_Missense_Mutation_p.K299T	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	299					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CAGGTCATGAAGGAGGCGTTT	0.607000								Base excision repair (BER), DNA glycosylases					44	4					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19649166	19649166	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:19649166C>G	ENST00000586018.1	+	1	110	c.8C>G	c.(7-9)tCg>tGg	p.S3W	CILP2_ENST00000291495.5_Missense_Mutation_p.S3W			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	3						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCATGGCGTCGCTGCTGCCA	0.756000													12	10					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137702143	137702143	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:137702143A>G	ENST00000371817.3	+	44	3931	c.3517A>G	c.(3517-3519)Aaa>Gaa	p.K1173E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1173	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGGGGACAAAGGAGAACA	0.617000													46	115					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30695563	30695563	+	Translation_Start_Site	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:30695563G>A	ENST00000427190.1	+	0	545				GK_ENST00000378946.3_Missense_Mutation_p.A111T|GK_ENST00000378943.3_Missense_Mutation_p.A111T|GK_ENST00000378941.3_Missense_Mutation_p.A111T|GK_ENST00000378945.3_Missense_Mutation_p.A111T			P32189	GLPK_HUMAN	glycerol kinase						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						TCTCTACAATGCTGTGGGTAA	0.418000													36	31					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967206	21967206	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:21967206C>T	ENST00000298717.4	-	10	1745	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	TOX4_ENST00000405508.1_3'UTR|TOX4_ENST00000262709.3_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	532					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CCAAATAACTCAATCTTGCGA	0.423000													17	63					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGCACAGGGCAGGTCTTGGC	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			52	6					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213087	58213087	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:58213087C>T	ENST00000512439.2	-	3	1426	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Silent_p.E410E|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	410						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATAAGGCTTCTCCCCAGTGT	0.448000													37	36					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22207000	22207000	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:22207000T>C	ENST00000374695.3	-	16	2130	c.2051A>G	c.(2050-2052)cAg>cGg	p.Q684R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	684	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGCAGCACCTGCAGCAGCTC	0.637000													19	34					0	0	1	0	0
HPRT1	3251	broad.mit.edu	37	X	133609215	133609215	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:133609215G>A	ENST00000298556.7	+	3	298	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	47					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	CTGTAGGACTGAACGTCTTGC	0.418000													24	4					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40841605	40841605	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:40841605G>A	ENST00000254691.5	+	1	320	c.121G>A	c.(121-123)Gag>Aag	p.E41K	CARD6_ENST00000381677.3_Missense_Mutation_p.E41K	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	41	CARD.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GCTGATTTCTGAGGAAGAGTA	0.408000													64	71					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2601414	2601414	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr18:2601414T>G	ENST00000261597.4	+	13	1576	c.1394T>G	c.(1393-1395)cTg>cGg	p.L465R		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	465	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AAGGAACTCCTGAATGAAACT	0.299000													9	47					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503446	102503446	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:102503446A>T	ENST00000369138.1	+	15	3043	c.2553A>T	c.(2551-2553)caA>caT	p.Q851H	GRIK2_ENST00000413795.1_Missense_Mutation_p.Q851H|GRIK2_ENST00000421544.1_Missense_Mutation_p.Q851H|GRIK2_ENST00000369134.4_Missense_Mutation_p.Q802H|GRIK2_ENST00000369137.3_Missense_Mutation_p.Q775H|GRIK2_ENST00000318991.6_Missense_Mutation_p.Q851H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	851					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAAACGCTCAATTGGAAAAGG	0.318000													30	100					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76349883	76349883	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:76349883G>A	ENST00000312916.7	+	10	1943	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	521					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TCCTGGCAGTGATACCTGTGA	0.433000													35	63					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883102	28883102	+	Splice_Site	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:28883102G>A	ENST00000337120.5	+	5	4602	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	SH2B1_ENST00000395532.4_Splice_Site_p.G437G|SH2B1_ENST00000322610.8_Splice_Site_p.G437G|SH2B1_ENST00000359285.5_Splice_Site_p.G437G|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Splice_Site_p.G127G|SH2B1_ENST00000538342.1_Splice_Site_p.G101G	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	437	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTTTTCCAGGGGCATATGGGG	0.567000													72	5					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185252791	185252791	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:185252791G>C	ENST00000296252.4	-	2	320	c.179C>G	c.(178-180)tCa>tGa	p.S60*	LIPH_ENST00000424591.2_Nonsense_Mutation_p.S60*	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	60					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCCAAAAGCTGAGGAGTTGAT	0.483000													63	177					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694229	67694229	+	Silent	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:67694229G>T	ENST00000219251.8	-	1	484	c.153C>A	c.(151-153)ctC>ctA	p.L51L	ACD_ENST00000393919.4_Silent_p.L51L	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGCCGGAGGAGGAGGCCCC	0.751000													13	17					2.27111e-07	2.30623e-07	1	1	0
DHTKD1	55526	broad.mit.edu	37	10	12139833	12139833	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:12139833G>A	ENST00000263035.4	+	8	1571	c.1509G>A	c.(1507-1509)ctG>ctA	p.L503L	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	503					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCCCTGCCCTGAACCTGCAGG	0.552000													105	104					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69326600	69326600	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:69326600G>A	ENST00000551568.1	-	2	78	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CPM_ENST00000338356.3_Silent_p.L6L|CPM_ENST00000546373.1_Silent_p.L6L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	6					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCCCTAGCCAGAGGCACGGGA	0.517000													36	86					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47700520	47700520	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:47700520G>T	ENST00000270225.7	+	7	832	c.764G>T	c.(763-765)aGa>aTa	p.R255I	SAE1_ENST00000540850.1_Missense_Mutation_p.R81I|SAE1_ENST00000413379.3_Intron|SAE1_ENST00000598840.1_Missense_Mutation_p.R174I|SAE1_ENST00000392776.3_Intron	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	255					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GATAAAGGAAGAGATCCCAGT	0.408000													46	85					3.05275e-18	3.26843e-18	1	1	0
UCN3	114131	broad.mit.edu	37	10	5415932	5415932	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:5415932C>G	ENST00000380433.3	+	2	477	c.249C>G	c.(247-249)atC>atG	p.I83M		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	83						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						CTTTCCCCATCTCTGGGGCCA	0.617000													8	31					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66441162	66441162	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:66441162G>A	ENST00000404260.3	+	23	3366	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	MAST4_ENST00000261569.7_Missense_Mutation_p.E823K|MAST4_ENST00000405643.1_Missense_Mutation_p.E838K|MAST4_ENST00000403666.1_Missense_Mutation_p.E828K|MAST4_ENST00000403625.2_Missense_Mutation_p.E1017K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1020						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGAGGAGCCTGAGGTCACCAC	0.617000													43	1					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74877088	74877088	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:74877088C>A	ENST00000241436.4	+	7	921	c.749C>A	c.(748-750)cCa>cAa	p.P250Q	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.P250Q|POLK_ENST00000380481.3_Missense_Mutation_p.P160Q|POLK_ENST00000352007.5_Missense_Mutation_p.P250Q|POLK_ENST00000508526.1_Missense_Mutation_p.P250Q|POLK_ENST00000504026.1_Missense_Mutation_p.P250Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	250	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TCCATCTCTCCACTACTTTTT	0.373000								DNA polymerases (catalytic subunits)					23	34					1.22574e-08	1.24791e-08	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1046287	1046287	+	Missense_Mutation	SNP	G	G	A	rs150971192		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:1046287G>A	ENST00000263094.6	+	13	1735	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.G364S|ABCA7_ENST00000433129.1_Missense_Mutation_p.G502S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	502					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGGGCGGCTTCGTGTA	0.692000													143	328					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65867548	65867548	+	Missense_Mutation	SNP	G	G	T	rs140156759		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:65867548G>T	ENST00000395325.3	+	15	2198	c.2041G>T	c.(2041-2043)Gac>Tac	p.D681Y	DNAJC6_ENST00000371069.4_Missense_Mutation_p.D738Y|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D668Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	681	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCTTTTGCCGACCTTGGGAC	0.463000													22	61					1.22574e-08	1.24791e-08	1	1	0
SCRIB	23513	broad.mit.edu	37	8	144892699	144892699	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:144892699C>T	ENST00000356994.2	-	13	1486	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	SCRIB_ENST00000377533.3_Missense_Mutation_p.E413K|SCRIB_ENST00000320476.3_Missense_Mutation_p.E494K	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	494	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCAGGCCTCGCTCCGCCGC	0.682000													56	184					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76829715	76829715	+	Splice_Site	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:76829715C>G	ENST00000373344.5	-	28	6540	c.6326G>C	c.(6325-6327)aGa>aCa	p.R2109T	ATRX_ENST00000395603.3_Splice_Site_p.R2071T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2109	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTTCCTACCTCACATTAGT	0.289000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						79	7					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94230076	94230076	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:94230076G>T	ENST00000544253.1	+	2	335	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	ANKRD49_ENST00000544612.1_Missense_Mutation_p.D73Y|ANKRD49_ENST00000540349.1_Missense_Mutation_p.D73Y|ANKRD49_ENST00000302755.4_Missense_Mutation_p.D73Y			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	73					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATGGAAAAAGACCCAAGCAG	0.393000													57	78					1.17673e-23	1.27022e-23	1	1	0
DHX15	1665	broad.mit.edu	37	4	24543624	24543624	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:24543624C>G	ENST00000336812.4	-	8	1513	c.1357G>C	c.(1357-1359)Gtt>Ctt	p.V453L		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	453	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGGGACTCAACTCTGATTCGA	0.428000													14	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579810	179579810	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:179579810G>A	ENST00000589042.1	-	90	26327	c.26103C>T	c.(26101-26103)caC>caT	p.H8701H	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.H8384H|TTN_ENST00000342992.6_Silent_p.H7457H|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8384							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCAGGATGTGGATACTGG	0.453000													97	247					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794072	13794072	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:13794072C>A	ENST00000265104.4	-	48	8087	c.7983G>T	c.(7981-7983)atG>atT	p.M2661I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2661	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATTATTGGCATATTCACAT	0.348000									Kartagener syndrome				38	31					2.87052e-16	3.05672e-16	1	1	0
TPTE	7179	broad.mit.edu	37	21	10996140	10996140	+	Splice_Site	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr21:10996140C>A	ENST00000415664.2	-	11	1346		c.e11-1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CCACCAATACCTATCCAAAAA	0.378000													48	96					6.3237e-29	6.8827e-29	1	1	0
KLK12	43849	broad.mit.edu	37	19	51537854	51537854	+	Silent	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:51537854G>T	ENST00000525263.1	-	1	143	c.24C>A	c.(22-24)ctC>ctA	p.L8L	KLK12_ENST00000250351.4_Silent_p.L8L|KLK12_ENST00000319590.4_Silent_p.L8L|KLK12_ENST00000250352.11_5'UTR|KLK12_ENST00000529888.1_Silent_p.L8L			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	8					proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GAACACACAGGAGCAAAAAGA	0.607000													4	5					0.00024832	0.000248952	1	1	0
ATM	472	broad.mit.edu	37	11	108204612	108204612	+	Splice_Site	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:108204612G>A	ENST00000278616.4	+	54	8312		c.e54-1		ATM_ENST00000452508.2_Splice_Site|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTAAATACAGAAGGCATAAA	0.363000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			223	95					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163045617	163045617	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:163045617G>C	ENST00000188790.4	-	19	1822	c.1615C>G	c.(1615-1617)Caa>Gaa	p.Q539E	FAP_ENST00000443424.1_Missense_Mutation_p.Q514E	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	539					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACATACACTTGAATTAGCAAG	0.294000													22	57					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63215083	63215083	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:63215083G>C	ENST00000263991.5	+	17	3213	c.2731G>C	c.(2731-2733)Gag>Cag	p.E911Q	EHBP1_ENST00000354487.3_Missense_Mutation_p.E876Q|EHBP1_ENST00000431489.1_Intron|EHBP1_ENST00000405015.3_Intron|EHBP1_ENST00000496857.1_Intron|EHBP1_ENST00000405289.1_Missense_Mutation_p.E876Q	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	911						cytoplasm|membrane		p.E911Q(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGATAATATTGAGATAGATAC	0.318000													28	94					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79940945	79940945	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr13:79940945C>A	ENST00000438737.2	-	7	1398	c.958G>T	c.(958-960)Gta>Tta	p.V320L	RBM26_ENST00000438724.1_Missense_Mutation_p.V320L|RBM26_ENST00000267229.7_Missense_Mutation_p.V320L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	320					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACATCTTCTACAACTACTGGA	0.458000													25	6					5.45024e-15	5.7417e-15	1	1	0
SERPINB7	8710	broad.mit.edu	37	18	61471682	61471682	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr18:61471682C>G	ENST00000398019.2	+	8	1281	c.956C>G	c.(955-957)tCa>tGa	p.S319*	SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.S302*|SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.S319*|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.S319*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	319					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTGTATATATCAAGGATGATG	0.453000													13	27					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20386150	20386150	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:20386150G>C	ENST00000302451.4	-	5	923	c.675C>G	c.(673-675)ttC>ttG	p.F225L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	225					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTACCTTTTTGAACACCAGGA	0.443000													77	10					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82372891	82372891	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:82372891A>G	ENST00000370728.1	+	6	908	c.263A>G	c.(262-264)gAt>gGt	p.D88G	LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.D88G|LPHN2_ENST00000370713.1_Missense_Mutation_p.D88G|LPHN2_ENST00000370725.1_Missense_Mutation_p.D88G|LPHN2_ENST00000359929.3_Missense_Mutation_p.D88G|LPHN2_ENST00000394879.1_Missense_Mutation_p.D88G|LPHN2_ENST00000370723.1_Missense_Mutation_p.D88G|LPHN2_ENST00000370730.1_Missense_Mutation_p.D88G|LPHN2_ENST00000370717.2_Missense_Mutation_p.D88G|LPHN2_ENST00000271029.4_Missense_Mutation_p.D88G|LPHN2_ENST00000370727.1_Missense_Mutation_p.D88G|LPHN2_ENST00000370721.1_Missense_Mutation_p.D88G|LPHN2_ENST00000370715.1_Missense_Mutation_p.D88G|LPHN2_ENST00000319517.6_Missense_Mutation_p.D88G			O95490	LPHN2_HUMAN	latrophilin 2	88	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TACCTCCCCGATGCCTTCAAA	0.383000													21	98					0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58519916	58519916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:58519916G>A	ENST00000358293.3	+	5	1333	c.918G>A	c.(916-918)tgG>tgA	p.W306*	FAM217B_ENST00000360816.3_Nonsense_Mutation_p.W306*|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	306																	TGCAGCGCTGGGATCTGTCCG	0.488000													21	60					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145739714	145739714	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:145739714C>T	ENST00000428558.2	-	11	1778	c.1737G>A	c.(1735-1737)ctG>ctA	p.L579L	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	579	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCAGGTGTCAGCATCAGCA	0.652000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				18	22					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433650	49433650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:49433650G>A	ENST00000301067.7	-	31	7902	c.7903C>T	c.(7903-7905)Cga>Tga	p.R2635*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATGCCTGATCGCTGTGAGGCT	0.622000													15	44					0	0	1	0	0
RNF41	10193	broad.mit.edu	37	12	56600396	56600396	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:56600396C>G	ENST00000345093.4	-	7	1158	c.789G>C	c.(787-789)gaG>gaC	p.E263D	RNF41_ENST00000552656.1_Missense_Mutation_p.E263D|RNF41_ENST00000394013.2_Missense_Mutation_p.E192D	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	263					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTGTCTAGTCTCTAGTGTGG	0.567000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	75					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216983823	216983823	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:216983823C>T	ENST00000392133.3	+	7	887	c.426C>T	c.(424-426)ttC>ttT	p.F142F	XRCC5_ENST00000392132.2_Silent_p.F142F			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	142	Leucine-zipper.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCAGCCGATTCAGCAAAAGTC	0.353000								Non-homologous end-joining					33	22					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74419268	74419268	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:74419268C>T	ENST00000429990.1	+	3	374	c.278C>T	c.(277-279)tCt>tTt	p.S93F						nuclear pore complex interacting protein family, member B15																		ATCTTCTGGTCTCGAAATGGA	0.473000													45	138					0	0	1	0	0
NRBF2	29982	broad.mit.edu	37	10	64913327	64913327	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:64913327C>G	ENST00000277746.6	+	4	394	c.213C>G	c.(211-213)atC>atG	p.I71M	NRBF2_ENST00000435510.2_Missense_Mutation_p.I61M	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	71					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCTCCTCATCCAAGAGAGAT	0.428000													51	41					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124369712	124369712	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:124369712G>C	ENST00000291478.5	+	5	791	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	KALRN_ENST00000428018.2_Missense_Mutation_p.E178Q|KALRN_ENST00000360013.3_Missense_Mutation_p.E1907Q|KALRN_ENST00000393496.1_Missense_Mutation_p.E248Q|KALRN_ENST00000459915.1_5'UTR	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCCTGAATGAGGGGATGGC	0.517000													89	13					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35550851	35550851	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:35550851G>A	ENST00000262626.2	+	6	1189	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HPN_ENST00000392226.1_Missense_Mutation_p.E122K|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000600675.1_3'UTR|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	122	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTGTGTGGACGAGGGGAGGCT	0.687000													6	7					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889777	24889777	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:24889777C>G	ENST00000396432.2	-	14	3416	c.2930G>C	c.(2929-2931)aGa>aCa	p.R977T	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R764T|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	976	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CGTCTGCTCTCTTTTATCTTT	0.448000													141	50					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366281	109366281	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:109366281C>G	ENST00000370001.3	-	12	2234	c.1966G>C	c.(1966-1968)Gat>Cat	p.D656H	AKNAD1_ENST00000357393.4_Missense_Mutation_p.D363H|AKNAD1_ENST00000369994.1_Missense_Mutation_p.D626H|AKNAD1_ENST00000369995.3_Missense_Mutation_p.D656H	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	656										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTGCCAGAATCAGAACAGAAG	0.433000													40	96					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33444553	33444553	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:33444553C>T	ENST00000305768.5	-	4	548	c.460G>A	c.(460-462)Gat>Aat	p.D154N	CEP89_ENST00000590597.2_Missense_Mutation_p.D154N	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TACAGGTCATCACTGTGGCCT	0.488000													33	653					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166040	151166040	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:151166040G>C	ENST00000282466.3	-	4	1728	c.1729C>G	c.(1729-1731)Cag>Gag	p.Q577E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	577	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCATTTTCCTGATAGGCTTCG	0.408000													52	97					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528615	17528615	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:17528615G>T	ENST00000511148.2	+	3	711	c.609G>T	c.(607-609)ttG>ttT	p.L203F		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	203						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CTGCAAACTTGGTCGTGGTGG	0.502000													29	39					9.39395e-14	9.86991e-14	1	1	0
MROH5	389690	broad.mit.edu	37	8	142458059	142458059	+	RNA	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:142458059C>T	ENST00000430863.1	-	0	2847					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGCTAGGGCTCGCTGGGCAGG	0.652000													7	36					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29601027	29601027	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr13:29601027A>C	ENST00000431530.3	+	1	2280	c.2222A>C	c.(2221-2223)aAg>aCg	p.K741T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	731	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.K741T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGAGTGAAAAGTTTTTGCAG	0.403000													20	35					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58701183	58701183	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:58701183C>T	ENST00000254286.4	+	13	1248	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	390						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TTGGTGTTCTCTCAATAACCC	0.398000													71	59					0	0	1	0	0
NPPC	4880	broad.mit.edu	37	2	232790153	232790153	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:232790153C>G	ENST00000409852.1	-	2	516	c.363G>C	c.(361-363)atG>atC	p.M121I	NPPC_ENST00000295440.2_Missense_Mutation_p.M121I	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	121					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		CCAGGCCGCTCATGGAGCCGA	0.692000													18	40					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15457320	15457320	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:15457320G>A	ENST00000443029.1	-	4	730	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	METTL6_ENST00000450816.2_Missense_Mutation_p.H119Y|METTL6_ENST00000383789.5_Missense_Mutation_p.H164Y|METTL6_ENST00000383790.3_Missense_Mutation_p.H164Y			Q8TCB7	METL6_HUMAN	methyltransferase like 6	164							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TTATCAGGATGAACAGCTGAC	0.418000													35	157					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126073159	126073159	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:126073159G>A	ENST00000368364.3	+	3	366	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HEY2_ENST00000368365.1_Missense_Mutation_p.E11K	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	57	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ATAGATTATAGAGAAAAGGCG	0.328000													23	83					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80763785	80763785	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:80763785C>T	ENST00000355528.4	+	10	1115	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	TBCD_ENST00000539345.2_Silent_p.L329L|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	329					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGCTGCAAATCTGCAGCTCCT	0.547000													48	54					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34960022	34960022	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:34960022G>C	ENST00000439527.2	+	17	2029	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q	UBA2_ENST00000592791.1_Missense_Mutation_p.E133Q|UBA2_ENST00000246548.4_Missense_Mutation_p.E607Q			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	607					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGTGAAGAAGAGAGAAGCCG	0.388000													13	24					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735918	158735918	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:158735918C>T	ENST00000335094.2	-	1	574	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGCCAAACTCAGCACAGGAG	0.473000													34	100					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751684	40751684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr15:40751684G>T	ENST00000561234.1	+	2	1280	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	BAHD1_ENST00000560846.1_Nonsense_Mutation_p.E341*|BAHD1_ENST00000416165.1_Nonsense_Mutation_p.E341*			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	341	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCTAAGCAGGAACTGCATCA	0.667000													83	8					5.52034e-35	6.05854e-35	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47076504	47076504	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:47076504T>C	ENST00000290341.3	+	2	543	c.209T>C	c.(208-210)aTt>aCt	p.I70T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I70T|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	70	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGCTTAGAGATTGAACATTCG	0.493000													49	22					0	0	1	0	0
OSTM1	28962	broad.mit.edu	37	6	108385488	108385488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:108385488G>A	ENST00000193322.3	-	2	503	c.418C>T	c.(418-420)Cag>Tag	p.Q140*		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	140						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GCACAACTCTGACTCTCTGAA	0.348000											OREG0003974	type=REGULATORY REGION|Gene=OSTM1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	46	27					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45642407	45642407	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:45642407C>T	ENST00000267430.5	+	13	2395	c.2310C>T	c.(2308-2310)caC>caT	p.H770H	FANCM_ENST00000542564.2_Silent_p.H744H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	770					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAATGAGACACGAAGAGGTGG	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				24	97					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093575	143093575	+	Silent	SNP	A	A	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:143093575A>C	ENST00000367603.2	-	5	3043	c.2301T>G	c.(2299-2301)ccT>ccG	p.P767P	HIVEP2_ENST00000367604.1_Silent_p.P767P|HIVEP2_ENST00000012134.2_Silent_p.P767P	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATGGACTTCCAGGCTGCAGTT	0.522000													13	48					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471352	6471352	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:6471352G>A	ENST00000358945.3	-	3	1180	c.740C>T	c.(739-741)gCg>gTg	p.A247V	SCNN1A_ENST00000360168.3_Missense_Mutation_p.A306V|SCNN1A_ENST00000228916.2_Missense_Mutation_p.A247V|SCNN1A_ENST00000543768.1_Missense_Mutation_p.A270V|SCNN1A_ENST00000396966.2_Missense_Mutation_p.A247V|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000540037.1_5'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	247					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CTCCCTCACCGCATCCACCCC	0.562000													4	163					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169769	45169769	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:45169769G>A	ENST00000260653.3	+	1	868	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	176					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCACTACCAGGAGGCCGAGAA	0.642000													5	19					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14387735	14387735	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:14387735C>A	ENST00000344204.4	+	22	3783	c.3759C>A	c.(3757-3759)aaC>aaA	p.N1253K	TRIO_ENST00000509967.2_Missense_Mutation_p.N1204K|TRIO_ENST00000537187.1_Missense_Mutation_p.N1253K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1253					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGATTCCAACAAATCGGTAA	0.423000													84	48					2.06477e-34	2.25977e-34	1	1	0
TIGD2	166815	broad.mit.edu	37	4	90034942	90034942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:90034942C>T	ENST00000317005.2	+	1	975	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	273	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CTTTGTGCCACAGGTACAGAA	0.403000													40	48					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264268	1264268	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:1264268C>G	ENST00000447027.1	+	31	6225	c.6167C>G	c.(6166-6168)aCt>aGt	p.T2056S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2053S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2053	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAAGTGCCAACTACCACAACC	0.637000													75	97					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46782330	46782330	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:46782330G>A	ENST00000529230.1	-	33	4272	c.4226C>T	c.(4225-4227)tCt>tTt	p.S1409F	CKAP5_ENST00000312055.5_Missense_Mutation_p.S1409F|CKAP5_ENST00000415402.1_Missense_Mutation_p.S1409F|CKAP5_ENST00000354558.3_Missense_Mutation_p.S1409F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1409					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATCCTTTTCAGAAAGCTGTAA	0.393000													54	28					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4357561	4357561	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:4357561C>T	ENST00000599840.1	+	10	1250	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	MPND_ENST00000262966.8_Silent_p.F405F|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Silent_p.F355F			Q8N594	MPND_HUMAN	MPN domain containing	405							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCACCTTTCTGGGTGATGC	0.677000													10	23					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57390079	57390079	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:57390079C>T	ENST00000300098.1	+	2	1305	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	362						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ATTCCATCATCATCACCAAGG	0.572000													51	129					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73409389	73409389	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr13:73409389A>G	ENST00000326291.6	+	9	1444	c.1106A>G	c.(1105-1107)tAt>tGt	p.Y369C		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	369						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGAGACCATTATAAAACAGAA	0.313000													46	6					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12123489	12123489	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:12123489G>C	ENST00000263035.4	+	2	235	c.173G>C	c.(172-174)aGg>aCg	p.R58T		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	58					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGCCTTGCCAGGTTGGTGACA	0.423000													214	85					0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35750299	35750299	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:35750299G>A	ENST00000378078.4	+	3	317	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	RGP1_ENST00000456972.2_Missense_Mutation_p.R99Q	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	59										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGAGAGTCGAGTAGCACTG	0.577000													32	4					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48707065	48707065	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:48707065A>G	ENST00000294952.8	+	13	1385	c.1228A>G	c.(1228-1230)Aca>Gca	p.T410A	PPP1R21_ENST00000449090.2_Missense_Mutation_p.T410A|PPP1R21_ENST00000281394.4_Missense_Mutation_p.T410A	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	410										endometrium(2)|kidney(4)|lung(9)	15						TTTCCTAGGTACAGAGCCAGA	0.413000													55	50					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393136	50393136	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:50393136G>A	ENST00000595948.1	-	10	2181	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	IL4I1_ENST00000391826.2_Missense_Mutation_p.R499C|IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	499						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGGCGGCGCGCAGCGCCGAC	0.667000													9	19					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61444809	61444809	+	Silent	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:61444809A>G	ENST00000370461.1	+	5	3963	c.1686A>G	c.(1684-1686)ccA>ccG	p.P562P	OGFR_ENST00000290291.6_Silent_p.P614P			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	614	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGACGAGCCAGCCGAGAGCC	0.756000													3	16					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280310	110280310	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:110280310G>A	ENST00000540225.1	-	7	746	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Silent_p.L146L|GSTM3_ENST00000256594.3_Silent_p.L146L|GSTM3_ENST00000488824.1_5'UTR			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	146	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	AATTTCCCCAGAAACATGGAG	0.438000													70	190					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259372	89259372	+	Silent	SNP	T	T	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:89259372T>A	ENST00000336596.2	+	3	741	c.516T>A	c.(514-516)ggT>ggA	p.G172G	EPHA3_ENST00000452448.2_Silent_p.G172G|EPHA3_ENST00000494014.1_Silent_p.G172G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	172						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGAAGTAGGTCCTGTCAACA	0.408000										TSP Lung(6;0.00050)			40	140					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43264906	43264906	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:43264906G>A	ENST00000372874.4	-	2	191	c.57C>T	c.(55-57)gaC>gaT	p.D19D	ADA_ENST00000537820.1_Silent_p.D19D	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	19					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGATGGATCCGTCTAGGTGGA	0.522000									Adenosine Deaminase Deficiency				7	23					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31549015	31549015	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr13:31549015C>G	ENST00000380473.3	+	7	854	c.841C>G	c.(841-843)Cac>Gac	p.H281D	RP11-252M21.6_ENST00000433788.1_RNA|TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	281																	TATTCGTACTCACTGTGACAC	0.299000													5	6					0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209007390	209007390	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:209007390G>C	ENST00000260988.4	-	3	547	c.500C>G	c.(499-501)tCt>tGt	p.S167C		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	167	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TCGTCTAAGAGAGCCAACTTT	0.443000													116	84					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346209	72346209	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr18:72346209C>G	ENST00000299687.5	+	1	3234	c.3234C>G	c.(3232-3234)ctC>ctG	p.L1078L	ZNF407_ENST00000577538.1_Silent_p.L1078L|ZNF407_ENST00000582337.1_Silent_p.L1078L|ZNF407_ENST00000309902.6_Silent_p.L1078L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGTCTTATCTCAACTCTGCTA	0.413000													19	3					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848333	29848333	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:29848333C>T	ENST00000325874.8	+	5	942	c.713C>T	c.(712-714)aCc>aTc	p.T238I	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.T136I	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	238	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GATGATGAGACCAGGACCAAC	0.557000													27	46					0	0	1	0	0
MAP3K7CL	56911	broad.mit.edu	37	21	30464817	30464817	+	Silent	SNP	C	C	T	rs151187634		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr21:30464817C>T	ENST00000399947.2	+	6	562	c.285C>T	c.(283-285)gtC>gtT	p.V95V	MAP3K7CL_ENST00000339024.4_5'UTR|MAP3K7CL_ENST00000286791.5_Silent_p.V95V|MAP3K7CL_ENST00000399934.1_5'UTR|MAP3K7CL_ENST00000399935.2_5'UTR|MAP3K7CL_ENST00000341618.4_Silent_p.V95V|MAP3K7CL_ENST00000545939.1_5'UTR|MAP3K7CL_ENST00000496779.1_3'UTR	NM_020152.2	NP_064537.1			MAP3K7 C-terminal like																		ATCCAAAGGTCAGCAAGTTGG	0.458000													67	8					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95735500	95735500	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr13:95735500C>T	ENST00000376887.4	-	21	2694	c.2580G>A	c.(2578-2580)gtG>gtA	p.V860V	ABCC4_ENST00000412704.1_Silent_p.V813V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	860	ABC transmembrane type-1 2.		V -> M (in dbSNP:rs45477596).		platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCCAAGGAATCACGGCCACAG	0.418000													19	32					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91064101	91064101	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:91064101C>G	ENST00000522161.1	+	12	1640	c.957C>G	c.(955-957)ctC>ctG	p.L319L	DECR1_ENST00000220764.2_Silent_p.L328L			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	328					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAGAAGAACTCATCAGGAAGA	0.358000													43	55					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048851	107048851	+	RNA	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:107048851G>A	ENST00000390627.2	-	0	389																											GGAGCCTGGCGGACCCAGCTC	0.592000													186	91					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839049	62839049	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:62839049C>T	ENST00000536311.1	+	7	864	c.500C>T	c.(499-501)tCt>tTt	p.S167F	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.S167F			Q01538	MYT1_HUMAN	myelin transcription factor 1	167					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATCGCAACTTCTCTCCTGAAC	0.587000													42	94					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713661	70713661	+	RNA	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:70713661G>C	ENST00000530196.1	-	0	857					NR_003951.1																						CCACTATGTTGACAACAAGAA	0.368000													57	40					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91701130	91701130	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:91701130G>T	ENST00000531499.2	-	2	604	c.265C>A	c.(265-267)Cac>Aac	p.H89N	GPR68_ENST00000535815.1_Missense_Mutation_p.H89N|GPR68_ENST00000238699.3_Missense_Mutation_p.H99N			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	89					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGGTCGCCGTGAGACCAGTTG	0.617000													34	8					3.11337e-16	3.30639e-16	1	1	0
FIGNL1	63979	broad.mit.edu	37	7	50514709	50514709	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:50514709G>C	ENST00000419119.1	-	2	1830	c.277C>G	c.(277-279)Caa>Gaa	p.Q93E	FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q93E|FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q93E|FIGNL1_ENST00000435566.1_Silent_p.L54L|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q93E			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	93					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCTGTTTGTTGAGATCCTGCC	0.323000													18	103					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113614891	113614891	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:113614891C>T	ENST00000314045.7	-	6	649	c.622G>A	c.(622-624)Gac>Aac	p.D208N	DDX54_ENST00000306014.5_Missense_Mutation_p.D208N	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	208	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAAACTGGTCTTCCATCCTA	0.517000													33	73					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29375569	29375569	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:29375569C>G	ENST00000320081.5	+	9	1295	c.1040C>G	c.(1039-1041)tCa>tGa	p.S347*	CLIP4_ENST00000401605.1_Nonsense_Mutation_p.S347*|CLIP4_ENST00000401617.2_Nonsense_Mutation_p.S240*|CLIP4_ENST00000404424.1_Nonsense_Mutation_p.S347*	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	347										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GCACCTCTTTCAAAGATAAGT	0.338000													16	33					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162096	194162096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:194162096C>A	ENST00000439040.1	-	16	2445	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.E552*			Q9H7F0	AT133_HUMAN	ATPase type 13A3	552					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGCACTCCTTCAATTTTTGTA	0.338000													42	50					6.68952e-21	7.18167e-21	1	1	0
DDHD1	80821	broad.mit.edu	37	14	53619512	53619512	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:53619512T>C	ENST00000357758.3	-	1	488	c.305A>G	c.(304-306)tAc>tGc	p.Y102C	DDHD1_ENST00000395606.1_Missense_Mutation_p.Y102C|DDHD1_ENST00000323669.5_Missense_Mutation_p.Y102C	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	102					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTCGCTGTAGTAGCGCAGCGA	0.716000													16	22					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	336110	336110	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:336110C>A	ENST00000264819.4	-	2	83	c.73G>T	c.(73-75)Ggg>Tgg	p.G25W	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTCCCCTGGGCACAGG	0.657000													26	62					7.38237e-10	7.63426e-10	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55996677	55996677	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:55996677G>A	ENST00000373965.2	-	9	1285	c.891C>T	c.(889-891)ccC>ccT	p.P297P	PCDH15_ENST00000395442.1_Silent_p.P297P|PCDH15_ENST00000395440.1_Silent_p.P297P|PCDH15_ENST00000437009.1_Silent_p.P297P|PCDH15_ENST00000373957.3_Silent_p.P275P|PCDH15_ENST00000395430.1_Silent_p.P297P|PCDH15_ENST00000395432.2_Silent_p.P260P|PCDH15_ENST00000395433.1_Silent_p.P275P|PCDH15_ENST00000395438.1_Silent_p.P297P|PCDH15_ENST00000320301.6_Silent_p.P297P|PCDH15_ENST00000373955.1_Silent_p.P297P|PCDH15_ENST00000361849.3_Silent_p.P297P|PCDH15_ENST00000414778.1_Silent_p.P302P|PCDH15_ENST00000395446.1_Silent_p.P297P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.P297P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	297	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAACAATAATGGGGTTCAGTT	0.403000										HNSCC(58;0.16)			124	12					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32267644	32267644	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:32267644C>T	ENST00000343380.5	-	3	628	c.489G>A	c.(487-489)caG>caA	p.Q163Q		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	163	Leucine-zipper.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCGCCGCTTCTGCACCTTCA	0.587000													122	95					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30426152	30426152	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr21:30426152C>G	ENST00000334352.4	+	18	2454	c.2223C>G	c.(2221-2223)ctC>ctG	p.L741L	USP16_ENST00000535828.1_Silent_p.L370L|USP16_ENST00000399976.2_Silent_p.L741L|USP16_ENST00000399975.3_Silent_p.L740L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	741					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CAAGGGTACTCTATTCCTTAT	0.393000													94	11					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646380	6646380	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:6646380C>G	ENST00000229239.5	+	6	1107	c.441C>G	c.(439-441)atC>atG	p.I147M	GAPDH_ENST00000396858.1_Missense_Mutation_p.I105M|GAPDH_ENST00000396861.1_Missense_Mutation_p.I147M|GAPDH_ENST00000396859.1_Missense_Mutation_p.I147M|GAPDH_ENST00000396856.1_Missense_Mutation_p.I72M	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	147	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	TCAAGATCATCAGGTGAGGAA	0.592000													25	44					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13763243	13763243	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:13763243C>G	ENST00000202816.1	-	2	651	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGTTTTTCTTCGAGAGAAGAG	0.348000													16	64					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992367	144992367	+	Silent	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:144992367G>C	ENST00000322810.4	-	32	12202	c.12033C>G	c.(12031-12033)ctC>ctG	p.L4011L	PLEC_ENST00000398774.2_Silent_p.L3842L|PLEC_ENST00000354958.2_Silent_p.L3852L|PLEC_ENST00000527096.1_Silent_p.L3897L|PLEC_ENST00000357649.2_Silent_p.L3878L|PLEC_ENST00000354589.3_Silent_p.L3874L|PLEC_ENST00000345136.3_Silent_p.L3874L|PLEC_ENST00000436759.2_Silent_p.L3901L|PLEC_ENST00000356346.3_Silent_p.L3860L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4011	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						ACAGTGGCAGGAGCAGCTGGC	0.692000													14	17					0	0	1	0	0
NUDT16	131870	broad.mit.edu	37	3	131100937	131100937	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:131100937G>A	ENST00000359850.3	+	2	226	c.87G>A	c.(85-87)gtG>gtA	p.V29V	NUDT16_ENST00000521288.1_Silent_p.V62V|NUDT16_ENST00000537561.1_Silent_p.V16V|NUDT16_ENST00000502852.1_Silent_p.V62V	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	62	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GCGGATTCGTGGACACGCAGG	0.687000													109	13					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24674004	24674004	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:24674004C>G	ENST00000361548.4	+	14	1820	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	GRHL3_ENST00000350501.5_Silent_p.L530L|GRHL3_ENST00000342072.4_Silent_p.L437L|GRHL3_ENST00000236255.4_Silent_p.L535L|GRHL3_ENST00000356046.2_Silent_p.L484L	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	530					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTGACGCGCTCATGTTGAAGA	0.577000													51	130					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204966414	204966414	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:204966414G>A	ENST00000367172.4	+	27	3548	c.3220G>A	c.(3220-3222)Gca>Aca	p.A1074T	NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.A967T|NFASC_ENST00000338515.6_Missense_Mutation_p.A1074T|NFASC_ENST00000339876.6_Missense_Mutation_p.A967T|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A1059T|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000338586.6_Intron			O94856	NFASC_HUMAN	neurofascin	1074	Thr-rich.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAACTGTCGCACCTaccac	0.637000													25	1					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158636917	158636917	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:158636917C>A	ENST00000263640.3	-	4	692	c.263G>T	c.(262-264)gGc>gTc	p.G88V	ACVR1_ENST00000434821.1_Missense_Mutation_p.G88V|ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000409283.2_Missense_Mutation_p.G88V|ACVR1_ENST00000410057.2_Missense_Mutation_p.G88V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	88					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CACGGCTTGGCCAGGGGACGG	0.542000													79	48					9.61239e-26	1.04046e-25	1	1	0
HSPA14	51182	broad.mit.edu	37	10	14894370	14894370	+	Splice_Site	SNP	A	A	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:14894370A>C	ENST00000378372.3	+	8	813	c.574A>C	c.(574-576)Aat>Cat	p.N192H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	192					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CTCTTGAAGCAATATTTTGGT	0.323000													54	159					0	0	1	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863115	30863115	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:30863115C>T	ENST00000309052.4	+	7	1084	c.875C>T	c.(874-876)aCc>aTc	p.T292I	LCLAT1_ENST00000379509.3_Missense_Mutation_p.T254I|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.T254I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	292					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CCAATAGACACCCTCCCCACA	0.507000													44	94					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38853419	38853419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:38853419G>T	ENST00000409235.3	+	20	2537	c.2422G>T	c.(2422-2424)Gag>Tag	p.E808*	CATSPERG_ENST00000410018.1_Nonsense_Mutation_p.E768*|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	808					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGGCTGCATCGAGGCCTCGGT	0.607000													56	74					4.09106e-26	4.44044e-26	1	1	0
SLK	9748	broad.mit.edu	37	10	105778008	105778008	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:105778008G>C	ENST00000369755.3	+	14	3513	c.2968G>C	c.(2968-2970)Gag>Cag	p.E990Q	SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Missense_Mutation_p.E959Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	990					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCTAATATTGAGAGAGAGTG	0.348000													57	5					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100122	110100122	+	Silent	SNP	C	C	T	rs147178230		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:110100122C>T	ENST00000518632.1	+	2	732	c.381C>T	c.(379-381)atC>atT	p.I127I	TRHR_ENST00000311762.2_Silent_p.I127I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	127						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACATAGCAATCTGTCACCCCA	0.418000													54	64					0	0	1	0	0
POP7	10248	broad.mit.edu	37	7	100304779	100304779	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:100304779A>G	ENST00000303151.4	+	2	588	c.326A>G	c.(325-327)gAt>gGt	p.D109G		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	109					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGCTTGTTGATGAGCTGGAG	0.602000													139	6					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656193	25656193	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:25656193G>A	ENST00000376436.1	-	4	2270	c.1731C>T	c.(1729-1731)tgC>tgT	p.C577C	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.C577C|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Silent_p.C545C					zinc finger protein 337									p.C577C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCTCGCCCGCAATCCTTGC	0.453000													4	181					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	2015432	2015432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:2015432C>A	ENST00000255608.4	-	1	287	c.271G>T	c.(271-273)Gag>Tag	p.E91*	BTBD2_ENST00000590646.1_Intron	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	91						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACGCGGCCTCGCGCTGCAgc	0.771000													7	1					8.12818e-05	8.16965e-05	1	1	0
ACTG2	72	broad.mit.edu	37	2	74136258	74136258	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:74136258G>A	ENST00000409624.1	+	6	1086	c.443G>A	c.(442-444)cGc>cAc	p.R148H	ACTG2_ENST00000409731.3_Missense_Mutation_p.R105H|ACTG2_ENST00000345517.3_Missense_Mutation_p.R148H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	148					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GCCTCTGGCCGCACGACAGGT	0.478000													4	104					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49204743	49204743	+	Translation_Start_Site	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:49204743G>T	ENST00000343844.4	-	0	696				FOLH1_ENST00000340334.7_Missense_Mutation_p.P278H|FOLH1_ENST00000356696.3_Missense_Mutation_p.P293H|FOLH1_ENST00000256999.2_Missense_Mutation_p.P293H|FOLH1_ENST00000533034.1_Missense_Mutation_p.P278H	NM_001193473.1	NP_001180402.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGGATGAACAGGAATACTTGG	0.358000													16	75					4.75885e-15	5.02677e-15	1	1	0
C7orf43	55262	broad.mit.edu	37	7	99754147	99754147	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:99754147G>C	ENST00000316937.3	-	8	1287	c.1102C>G	c.(1102-1104)Ccg>Gcg	p.P368A	C7orf43_ENST00000419841.1_Missense_Mutation_p.P136A|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.P99A	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	368										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAAAACACGGGCGGTCCAAG	0.562000													10	36					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187131662	187131662	+	Missense_Mutation	SNP	C	C	T	rs146494374		TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:187131662C>T	ENST00000378802.4	+	11	1749	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	482					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.S482L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ACCATTCTTTCGTGCATCCTG	0.393000													36	39					0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652000													4	40					0	0	1	0	0
UBAC1	10422	broad.mit.edu	37	9	138836948	138836948	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:138836948C>T	ENST00000371756.3	-	7	1019	c.802G>A	c.(802-804)Gag>Aag	p.E268K	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	268						Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGGCCTCCTCATCGGTGGCG	0.627000													44	8					0	0	1	0	0
GPD1L	23171	broad.mit.edu	37	3	32207336	32207336	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:32207336C>G	ENST00000282541.5	+	8	1191	c.990C>G	c.(988-990)atC>atG	p.I330M		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	330					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						TGTATCAGATCTGCTACGAAA	0.423000													34	21					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206721	110206721	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:110206721C>T	ENST00000538780.1	+	3	1703	c.987C>T	c.(985-987)ctC>ctT	p.L329L	FAM222A_ENST00000358906.3_Silent_p.L329L|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	329																	GGTCACCCCTCAACTGTGGCG	0.682000													13	9					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125449488	125449488	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:125449488C>T	ENST00000308736.2	-	14	1898	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	DHX37_ENST00000544745.1_Silent_p.E387E	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	600	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTGCTTGCTTCTCTGGGGCCA	0.627000													5	12					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70713100	70713100	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:70713100C>T	ENST00000229195.3	+	4	773	c.194C>T	c.(193-195)tCa>tTa	p.S65L	CNOT2_ENST00000418359.3_Missense_Mutation_p.S65L	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	65					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CCATCTACATCAGGTCAGCTG	0.333000													28	88					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129233	41129233	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:41129233C>G	ENST00000373113.3	-	2	252	c.159G>C	c.(157-159)caG>caC	p.Q53H	TREM2_ENST00000338469.3_Missense_Mutation_p.Q53H|TREM2_ENST00000373122.4_Missense_Mutation_p.Q53H	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	53	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTCTCCCAGCTGGCGGCACC	0.637000													24	48					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137807238	137807238	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:137807238C>T	ENST00000327532.2	-	6	1344	c.982G>A	c.(982-984)Gag>Aag	p.E328K	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.E328K	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	328						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCTGTCTTCTCTCTCAGGGCC	0.512000													9	35					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907622	11907622	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:11907622G>A	ENST00000376480.3	-	1	218	c.120C>T	c.(118-120)ttC>ttT	p.F40F	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	40					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCTACCTTGAAATCCATCA	0.542000													116	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179423086	179423086	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:179423086G>A	ENST00000589042.1	-	327	87324	c.87100C>T	c.(87100-87102)Ctt>Ttt	p.L29034F	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20094F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20161F|TTN_ENST00000591111.1_Missense_Mutation_p.L27393F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26466F|TTN_ENST00000460472.2_Missense_Mutation_p.L19969F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27393	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTAATAAGAACAGGAAGC	0.363000													8	29					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25914233	25914233	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr13:25914233G>A	ENST00000381736.3	+	16	2011	c.1761G>A	c.(1759-1761)ttG>ttA	p.L587L	NUPL1_ENST00000381718.3_Silent_p.L575L	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	587					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TCCTTCAGTTGAAGAAACCTC	0.448000													49	34					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191897738	191897738	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:191897738C>G	ENST00000392320.2	-	21	2304	c.1990G>C	c.(1990-1992)Gac>Cac	p.D664H	STAT4_ENST00000358470.4_Missense_Mutation_p.D664H	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	664	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTGGGAATGTCAGGATATAGG	0.418000													43	95					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135289	32135289	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:32135289G>C	ENST00000312561.4	+	4	1814	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		AATGCAGAGAGACAAACACCA	0.388000													53	104					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982329	201982329	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:201982329G>C	ENST00000359651.3	+	6	3900	c.708G>C	c.(706-708)aaG>aaC	p.K236N	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.K236N|ELF3_ENST00000367284.5_Missense_Mutation_p.K236N			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	236					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTGACTGCAAGAAGGGGGATC	0.592000													30	78					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68373735	68373735	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:68373735G>C	ENST00000339507.5	+	9	1621	c.791G>C	c.(790-792)aGc>aCc	p.S264T	PRMT7_ENST00000441236.1_Missense_Mutation_p.S214T|PRMT7_ENST00000348497.4_Missense_Mutation_p.S190T|PRMT7_ENST00000449359.3_Missense_Mutation_p.S214T|PRMT7_ENST00000564441.1_3'UTR			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	264					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCCTGCCATAGCAGGCGGTTT	0.493000													72	8					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43776466	43776466	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:43776466G>A	ENST00000405006.4	-	20	3340	c.2989C>T	c.(2989-2991)Cct>Tct	p.P997S	THADA_ENST00000415080.2_Missense_Mutation_p.P707S|THADA_ENST00000330266.7_Missense_Mutation_p.P707S|THADA_ENST00000405975.2_Missense_Mutation_p.P997S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	997							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTATCTCGAGGCTGAATCTCA	0.388000													6	12					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900259	86900259	+	Splice_Site	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:86900259C>T	ENST00000376238.4	-	14	1697		c.e14+1		SLC28A3_ENST00000537648.1_Splice_Site|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3						nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TATTTACTCACTGATATATAT	0.398000													11	21					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58124285	58124285	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:58124285G>A	ENST00000257897.3	-	12	1498	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	AGAP2_ENST00000547588.1_Silent_p.L807L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	807	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GACCCGTGCTGAGGGCTCGGG	0.572000													123	288					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22837705	22837705	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:22837705G>A	ENST00000404138.1	+	11	2378	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ZBTB40_ENST00000375647.4_Missense_Mutation_p.E623K|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E511K	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	623					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCAGCCCTGAAGCTTCCCT	0.493000													149	84					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126751293	126751293	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:126751293G>A	ENST00000393409.2	+	29	5295	c.5295G>A	c.(5293-5295)aaG>aaA	p.K1765K	PLXNA1_ENST00000251772.4_Silent_p.K1742K|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1765					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACATTCACAAGAACAGCATCA	0.587000													129	13					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069357	9069357	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:9069357G>C	ENST00000397910.4	-	3	18292	c.18089C>G	c.(18088-18090)tCa>tGa	p.S6030*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6032	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						GGAGTGGATTGAGACAGAGGA	0.458000													83	174					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64194305	64194305	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:64194305G>C	ENST00000247225.6	-	1	452	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	120						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACGCGGGCCAGCTGGCCCTCC	0.701000													34	58					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086839	39086839	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr21:39086839G>A	ENST00000609713.1	-	3	1210	c.621C>T	c.(619-621)acC>acT	p.T207T	KCNJ6_ENST00000288309.6_Silent_p.T207T	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCACTGCATGGGTGGAAAAGA	0.502000													61	6					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2240692	2240692	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:2240692G>C	ENST00000243706.4	-	3	1217	c.988C>G	c.(988-990)Caa>Gaa	p.Q330E	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q330E|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.Q330E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	330					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTTTTATTTGAGTGACCTCT	0.363000													39	73					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723618	49723618	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:49723618G>A	ENST00000449682.2	-	9	1385	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	328	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGTTCTCCCGAAGGTCTCTA	0.672000													20	12					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141940	133141940	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:133141940C>A	ENST00000388996.4	-	15	2608	c.2188G>T	c.(2188-2190)Gtt>Ttt	p.V730F	KCNQ3_ENST00000519445.1_Missense_Mutation_p.V718F|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V610F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	730					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTTGCCTGAACCTTTCCAGAA	0.562000													17	38					1.02788e-11	1.07423e-11	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125058088	125058088	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:125058088G>A	ENST00000522917.1	+	21	2876	c.2670G>A	c.(2668-2670)gaG>gaA	p.E890E	FER1L6_ENST00000399018.1_Silent_p.E890E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	890	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGTGAAGGAGCTGGCAGAGT	0.552000													86	217					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944710	32944710	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:32944710C>G	ENST00000395289.2	+	7	2798	c.1197C>G	c.(1195-1197)gtC>gtG	p.V399V	BRD2_ENST00000395287.1_Silent_p.V399V|BRD2_ENST00000374825.4_Silent_p.V399V|BRD2_ENST00000443797.2_Silent_p.V279V|BRD2_ENST00000449085.2_Silent_p.V352V|BRD2_ENST00000374831.4_Silent_p.V399V			P25440	BRD2_HUMAN	bromodomain containing 2	399	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TCAGCACTGTCAAGGTACCCA	0.517000													24	68					0	0	1	0	0
EFCAB11	90141	broad.mit.edu	37	14	90398919	90398919	+	Silent	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:90398919T>C	ENST00000316738.7	-	4	298	c.270A>G	c.(268-270)caA>caG	p.Q90Q	EFCAB11_ENST00000555872.1_Silent_p.Q66Q|EFCAB11_ENST00000538485.2_Silent_p.Q90Q|EFCAB11_ENST00000550103.2_5'UTR|EFCAB11_ENST00000267544.9_Silent_p.Q27Q|EFCAB11_ENST00000556609.1_Silent_p.Q42Q|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556005.1_Silent_p.Q66Q	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	90							calcium ion binding			large_intestine(1)|lung(1)	2						TCCGATATCGTTGAGCTTCCT	0.338000													59	22					0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55194030	55194030	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:55194030G>C	ENST00000371281.3	+	6	693	c.606G>C	c.(604-606)caG>caC	p.Q202H	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	202							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GAATTGAACAGAGGGATGTGA	0.413000													6	25					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80993245	80993245	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:80993245C>G	ENST00000555265.1	-	23	3415	c.3040G>C	c.(3040-3042)Gat>Cat	p.D1014H	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Missense_Mutation_p.D1014H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1014						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGGTGTCATCTTGGTGATGC	0.348000													28	87					0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24838120	24838120	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:24838120C>G	ENST00000504487.1	-	7	679	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000389609.4_Missense_Mutation_p.E225Q|CCDC149_ENST00000428116.2_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	225										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTTAATCTCTCTTGAAGGTAC	0.353000													32	44					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221041	140221041	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:140221041G>A	ENST00000531613.1	+	1	135	c.135G>A	c.(133-135)gtG>gtA	p.V45V	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.V45V|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGGATCG	0.667000													52	64					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131082043	131082043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:131082043G>T	ENST00000352689.6	+	5	458	c.418G>T	c.(418-420)Gga>Tga	p.G140*	MKLN1_ENST00000429546.1_Nonsense_Mutation_p.G48*|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.G48*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	140					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTTGTCCTGGGGACCCAGCTT	0.353000													29	47					5.45727e-16	5.78001e-16	1	1	0
NFE2L3	9603	broad.mit.edu	37	7	26224208	26224208	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:26224208C>G	ENST00000056233.3	+	4	1149	c.890C>G	c.(889-891)tCt>tGt	p.S297C		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	297					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.S297Y(1)|p.S297C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGCATGAATTCTTCAGCACAT	0.403000													52	166					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68265100	68265100	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr14:68265100C>T	ENST00000347230.4	-	11	2017	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E627K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	627					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACTTCCTTTCAGGATGTGCT	0.537000													33	57					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887531	131887531	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr7:131887531G>A	ENST00000359827.3	-	12	3422	c.2460C>T	c.(2458-2460)gaC>gaT	p.D820D	PLXNA4_ENST00000321063.4_Silent_p.D820D			Q9HCM2	PLXA4_HUMAN	plexin A4	820	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACATGCGAAGTCTGGGTCAG	0.642000													12	16					0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959324	183959324	+	RNA	SNP	C	C	T	rs147148586	by1000genomes	TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:183959324C>T	ENST00000502308.1	+	0	507					NR_003612.1																						AACAGGTCAGCGAAACCCACC	0.418000													6	11					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29496108	29496108	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:29496108G>C	ENST00000360150.4	-	12	1008	c.933C>G	c.(931-933)ttC>ttG	p.F311L		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	311					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	AAAACTGCCAGAATGGCATGT	0.393000													37	73					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98828416	98828416	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:98828416G>A	ENST00000477737.1	+	13	1965	c.1761G>A	c.(1759-1761)ctG>ctA	p.L587L	VWA3B_ENST00000435344.1_Silent_p.L587L|VWA3B_ENST00000451075.2_Silent_p.L437L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	587	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAACACCCTGAGTGCCCTGA	0.428000													27	78					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128881675	128881675	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:128881675G>A	ENST00000371106.3	+	7	775	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	195					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ATGGGGATCAGAGAGGCCACC	0.527000													56	2					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100522	17100522	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:17100522G>A	ENST00000443236.1	-	13	1498	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	442						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCGAGGGAGAGGTAGCTGG	0.597000													60	37					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045991	47045991	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:47045991G>A	ENST00000450053.3	+	38	6384	c.6205G>A	c.(6205-6207)Gta>Ata	p.V2069I	NBEAL2_ENST00000383740.2_Missense_Mutation_p.V348I|NBEAL2_ENST00000292309.5_Missense_Mutation_p.V1885I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2069	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCAGAAATGGGTACAGCGTGA	0.577000													48	3					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95091439	95091439	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:95091439C>G	ENST00000379982.3	+	6	1530	c.1022C>G	c.(1021-1023)tCa>tGa	p.S341*	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	341	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TCTTGTTTATCAGACATCCTT	0.408000													59	80					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075164	83075164	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:83075164C>T	ENST00000369750.3	+	2	1103	c.486C>T	c.(484-486)ttC>ttT	p.F162F	TPBG_ENST00000535040.1_Silent_p.F162F|TPBG_ENST00000543496.1_Silent_p.F162F			Q13641	TPBG_HUMAN	trophoblast glycoprotein	162					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCTTCGCTTTCTCGGGCAGCA	0.662000													159	87					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10406170	10406170	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:10406170G>A	ENST00000221980.4	+	10	2442	c.2379G>A	c.(2377-2379)tcG>tcA	p.S793S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	793	Ig-like C2-type 9.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCGGCCTGTCGAGCAACAACA	0.716000													9	6					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10384939	10384939	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:10384939C>G	ENST00000377086.1	+	26	2863	c.2661C>G	c.(2659-2661)ttC>ttG	p.F887L	KIF1B_ENST00000377081.1_Missense_Mutation_p.F887L|KIF1B_ENST00000263934.6_Missense_Mutation_p.F841L			O60333	KIF1B_HUMAN	kinesin family member 1B	887					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACTGGTTCAAACTTGTGG	0.408000													30	92					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156819849	156819849	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:156819849G>C	ENST00000347377.6	+	31	4034	c.3603G>C	c.(3601-3603)aaG>aaC	p.K1201N	CYFIP2_ENST00000377576.3_Missense_Mutation_p.K1201N|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Missense_Mutation_p.K1175N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.K1005N|CYFIP2_ENST00000541131.1_Missense_Mutation_p.K1126N|CYFIP2_ENST00000435847.2_Missense_Mutation_p.K900N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.K1226N	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1226					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCCCCTGAAGAAGATGGCCG	0.507000													29	48					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66441000	66441000	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:66441000G>C	ENST00000404260.3	+	23	3204	c.2896G>C	c.(2896-2898)Gat>Cat	p.D966H	MAST4_ENST00000261569.7_Missense_Mutation_p.D769H|MAST4_ENST00000405643.1_Missense_Mutation_p.D784H|MAST4_ENST00000403666.1_Missense_Mutation_p.D774H|MAST4_ENST00000403625.2_Missense_Mutation_p.D963H			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	966						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAACTCTTCAGATACTGAAAG	0.393000													22	1					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94352998	94352998	+	Silent	SNP	A	A	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:94352998A>T	ENST00000299001.6	+	18	2452	c.2241A>T	c.(2239-2241)gtA>gtT	p.V747V	RP11-867G2.8_ENST00000536540.1_RNA|PIWIL4_ENST00000537419.1_Silent_p.V98V|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	747	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACCGCACTGTACAGAACCCCC	0.433000													37	36					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567191	45567191	+	RNA	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:45567191C>T	ENST00000256692.5	-	0	1494					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTACCATATGCGTTATTCAGG	0.453000													31	60					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371618	34371618	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:34371618C>A	ENST00000297625.7	-	2	1447	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	442					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGAACCAGTCGCGGGCCTTT	0.677000													18	3					1.56452e-12	1.63942e-12	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16822593	16822593	+	Silent	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:16822593C>G	ENST00000355661.3	-	17	2347	c.2337G>C	c.(2335-2337)ctG>ctC	p.L779L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.L779L|PLEKHA7_ENST00000448080.2_Silent_p.L779L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	779					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTCCAACTTCAGGTATTCGT	0.498000													60	99					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23769093	23769093	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:23769093C>T	ENST00000336689.3	-	6	530	c.486G>A	c.(484-486)gaG>gaA	p.E162E	ASAP3_ENST00000437606.2_Silent_p.E153E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	162					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGCGCTCCTTCTCCAGCTTGG	0.597000													26	31					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:145293478C>T	ENST00000342960.5	+	1	108	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369339.3_Missense_Mutation_p.R25C|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	25										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)		CGAGACATTGCGCCCCCAGCT	0.502000													8	1013					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Silent	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:55890553G>A	ENST00000313472.3	+	1	705	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413000													36	93					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409749	13409749	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:13409749C>G	ENST00000360228.5	-	19	2697	c.2698G>C	c.(2698-2700)Gag>Cag	p.E900Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E901Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	901					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGTCCGACTCGCGGCCGTAG	0.776000													16	7					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40590539	40590539	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr21:40590539C>T	ENST00000342449.3	-	30	3508	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E1144K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1144K|BRWD1-IT1_ENST00000435608.1_RNA	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCTCTAGCTCATCTGTTGTG	0.333000													13	24					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42852739	42852739	+	Silent	SNP	T	T	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:42852739T>C	ENST00000307602.4	+	16	1779	c.1579T>C	c.(1579-1581)Tta>Cta	p.L527L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	527					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGTTGAAGAATTACAAAAATC	0.343000			T	RET	papillary thyroid								60	3					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105463529	105463529	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr8:105463529G>T	ENST00000351513.2	-	2	500	c.368C>A	c.(367-369)cCc>cAc	p.P123H		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	123					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.P123H(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAAACTTTGGGATCAGCCCA	0.527000													19	61					5.03518e-11	5.23447e-11	1	1	0
MMACHC	25974	broad.mit.edu	37	1	45974757	45974757	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:45974757C>G	ENST00000401061.4	+	4	999	c.719C>G	c.(718-720)tCa>tGa	p.S240*		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	240							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTCAGCCCTCAGAGAAGCCT	0.622000													80	168					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55439096	55439096	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:55439096G>C	ENST00000588756.1	-	12	3344	c.2858C>G	c.(2857-2859)tCt>tGt	p.S953C	NLRP7_ENST00000328092.5_Missense_Mutation_p.S925C|NLRP7_ENST00000340844.2_Intron|NLRP7_ENST00000448121.2_Missense_Mutation_p.S925C|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.S981C|NLRP7_ENST00000592784.1_Missense_Mutation_p.S953C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGGAGAGCAGATCCAAGATG	0.478000													49	74					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626069	154626069	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr4:154626069C>T	ENST00000260010.6	+	1	3418	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	670	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				ATCCCCCCTTCAAGTTGTGTC	0.453000													33	54					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641648	23641648	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:23641648G>C	ENST00000261584.4	-	5	1979	c.1827C>G	c.(1825-1827)atC>atG	p.I609M		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	609					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GAAAGTCTGTGATACTGAGAA	0.398000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					53	11					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93773532	93773532	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:93773532G>T	ENST00000265990.6	+	31	4728	c.4420G>T	c.(4420-4422)Gat>Tat	p.D1474Y	BTAF1_ENST00000544642.1_Missense_Mutation_p.D302Y	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1474					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGCAAGTAGGGATGCTCGAAG	0.388000													28	63					4.59853e-10	4.76795e-10	1	1	0
FCHO1	23149	broad.mit.edu	37	19	17881352	17881352	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:17881352G>A	ENST00000594202.1	+	8	734	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	FCHO1_ENST00000596951.1_Missense_Mutation_p.R152Q|FCHO1_ENST00000595033.1_Missense_Mutation_p.R102Q|FCHO1_ENST00000252771.7_Missense_Mutation_p.R152Q|FCHO1_ENST00000600676.1_Missense_Mutation_p.R152Q|FCHO1_ENST00000389133.4_Missense_Mutation_p.R152Q|FCHO1_ENST00000596536.1_Missense_Mutation_p.R152Q|FCHO1_ENST00000597512.1_Missense_Mutation_p.R159Q|FCHO1_ENST00000539407.1_Missense_Mutation_p.R152Q	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	152										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAGCGGCTGCGGAGGGAGAGT	0.632000													35	32					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16916384	16916384	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:16916384C>T	ENST00000377833.4	-	58	9290	c.9225G>A	c.(9223-9225)gtG>gtA	p.V3075V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3075	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGCTCGATCACCTTGTCGT	0.403000													26	123					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85277580	85277580	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:85277580G>C	ENST00000450363.3	-	5	1272	c.814C>G	c.(814-816)Ctc>Gtc	p.L272V	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Intron|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	275					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAATTTGAGAGAGGGATGAAT	0.378000													25	62					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30904343	30904343	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr20:30904343G>C	ENST00000375712.3	+	4	1687	c.1520G>C	c.(1519-1521)aGa>aCa	p.R507T	KIF3B_ENST00000418717.2_Missense_Mutation_p.R133T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	507					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	p.R507T(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCGAGAAAGAGAAATCCAG	0.458000													29	28					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259426	16259426	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr1:16259426G>C	ENST00000375759.3	+	11	6895	c.6691G>C	c.(6691-6693)Gaa>Caa	p.E2231Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2231	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGGGAGCCAGAAAACTTCCC	0.577000													55	108					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993695	52993695	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:52993695G>A	ENST00000259803.7	-	6	831	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	207						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTCCTGGAAAGACCAAGTTAA	0.413000													45	94					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804453	115804453	+	Silent	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:115804453C>T	ENST00000369295.2	+	1	648	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	188					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CATCTCGGCCCTGGTGTCCTT	0.697000													31	23					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131607662	131607662	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:131607662C>T	ENST00000436267.2	-	4	454	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	CCBL1_ENST00000302586.3_Missense_Mutation_p.R8Q|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R8Q			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	8					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GTCTAGCCTTCGGGCCTGCAG	0.612000													21	4					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159412	130159412	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr3:130159412G>C	ENST00000265379.6	+	35	6724	c.6230G>C	c.(6229-6231)aGa>aCa	p.R2077T	COL6A5_ENST00000432398.2_Missense_Mutation_p.R2077T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2077	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCCTATCTAAGAAAACACAAG	0.418000													26	13					0	0	1	0	0
CARHSP1	23589	broad.mit.edu	37	16	8953184	8953184	+	Translation_Start_Site	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:8953184A>G	ENST00000396593.2	-	2	361	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CARHSP1_ENST00000562843.1_Start_Codon_SNP_p.M1T|CARHSP1_ENST00000561530.1_Start_Codon_SNP_p.M1T|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Start_Codon_SNP_p.M1T|CARHSP1_ENST00000311052.5_Start_Codon_SNP_p.M1T	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	1					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						CTCAGATGACATGGCTGACCT	0.622000													12	18					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20426127	20426127	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr13:20426127G>C	ENST00000337963.4	-	3	458	c.194C>G	c.(193-195)tCt>tGt	p.S65C	ZMYM5_ENST00000382907.4_Missense_Mutation_p.S65C|ZMYM5_ENST00000382905.4_Missense_Mutation_p.S65C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	65						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AGGTTGTATAGATTCAATAAA	0.368000													70	8					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94619774	94619774	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:94619774G>A	ENST00000515393.1	-	1	505	c.506C>T	c.(505-507)tCg>tTg	p.S169L		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	169	Ser-rich.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGCTGGGGCgaggaggacag	0.741000													2	1					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31327297	31327297	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr11:31327297T>A	ENST00000597505.1	-	4	618	c.619A>T	c.(619-621)Aat>Tat	p.N207Y	DCDC1_ENST00000452803.1_Missense_Mutation_p.N207Y|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	207	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGTTCAGATTCAGCTTTTCT	0.443000													31	33					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36507963	36507963	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr6:36507963G>C	ENST00000229812.7	-	2	302	c.17C>G	c.(16-18)tCa>tGa	p.S6*		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	6					intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAAGGTGTTGAGCCTGTCAT	0.438000													62	167					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117119169	117119169	+	Silent	SNP	A	A	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr9:117119169A>G	ENST00000307564.4	-	13	2981	c.2820T>C	c.(2818-2820)acT>acC	p.T940T	AKNA_ENST00000374088.3_Silent_p.T940T|AKNA_ENST00000374075.5_Silent_p.T859T|AKNA_ENST00000223791.3_Silent_p.T400T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGTGCTCTGGAGTCTGGGTGA	0.582000													63	100					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192228541	192228541	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr2:192228541G>A	ENST00000392318.3	+	10	1100	c.853G>A	c.(853-855)Gag>Aag	p.E285K	MYO1B_ENST00000304164.4_Missense_Mutation_p.E285K|MYO1B_ENST00000339514.4_Missense_Mutation_p.E285K|MYO1B_ENST00000392316.1_Missense_Mutation_p.E285K	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	285	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGGGAACATTGAGTTCAAGCC	0.438000													50	116					0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49949873	49949873	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr19:49949873C>G	ENST00000262265.5	-	8	1001	c.766G>C	c.(766-768)Gac>Cac	p.D256H	PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.D256H	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	256					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		ATATAAGCGTCTAGATGATAC	0.617000													69	83					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	256519	256519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:256519delC	ENST00000264932.6	+	15	2094	c.1979delC	c.(1978-1980)gccfs	p.A660fs	SDHA_ENST00000504309.1_Frame_Shift_Del_p.A579fs|SDHA_ENST00000510361.1_Frame_Shift_Del_p.A612fs|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	660					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTCCCGCCAGCCATTCGCTCC	0.443									Familial Paragangliomas				85	52	---	---	---	---					
TARS	6897	broad.mit.edu	37	5	33448724	33448732	+	In_Frame_Del	DEL	GGCAGAAAA	GGCAGAAAA	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:33448724_33448732delGGCAGAAAA	ENST00000265112.3	+	3	527_535	c.216_224delGGCAGAAAA	c.(214-225)ctggcagaaaag>ctg	p.AEK76del	TARS_ENST00000414361.2_In_Frame_Del_p.QKR6del|TARS_ENST00000455217.2_In_Frame_Del_p.AEK76del|TARS_ENST00000541634.1_Intron|TARS_ENST00000502553.1_In_Frame_Del_p.AEK76del	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	76					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.A73V(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ATTCCATTCTGGCAGAAAAGGCAGAAAAA	0.378													29	53	---	---	---	---					
PTCD2	79810	broad.mit.edu	37	5	71616333	71616333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr5:71616333delG	ENST00000380639.5	+	1	140	c.124delG	c.(124-126)ggafs	p.G42fs	PTCD2_ENST00000536805.1_5'UTR|PTCD2_ENST00000543322.1_Frame_Shift_Del_p.G42fs|PTCD2_ENST00000503868.1_Frame_Shift_Del_p.G42fs	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	42										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CTGCCCTCTCGGAGGTATCCG	0.602													49	4	---	---	---	---					
ZNF37A	7587	broad.mit.edu	37	10	38406318	38406321	+	Splice_Site	DEL	AATT	AATT	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr10:38406318_38406321delAATT	ENST00000361085.5	+	7	584_587	c.239_242delAATT	c.(238-243)gaatta>ga	p.EL80fs	ZNF37A_ENST00000351773.3_Splice_Site_p.EL80fs	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TGTATTTCAGAATTAATTAATACC	0.304													23	97	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49724889	49724895	+	Frame_Shift_Del	DEL	GCCCTGT	GCCCTGT	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr12:49724889_49724895delGCCCTGT	ENST00000551245.1	+	13	2372_2378	c.2261_2267delGCCCTGT	c.(2260-2268)agccctgtgfs	p.SPV754fs	TROAP_ENST00000547923.1_Intron|TROAP_ENST00000257909.3_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCACTTCCAGCCCTGTGCTCCTAATT	0.604													4	8	---	---	---	---					
ZC3H7A	29066	broad.mit.edu	37	16	11855345	11855350	+	In_Frame_Del	DEL	TCGCAC	TCGCAC	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr16:11855345_11855350delTCGCAC	ENST00000396516.2	-	18	2428_2433	c.2231_2236delGTGCGA	c.(2230-2238)cgtgcgatg>ctg	p.744_746RAM>L	ZC3H7A_ENST00000355758.4_In_Frame_Del_p.744_746RAM>L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	744						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ATCACTCTCATCGCACGCCGGTCTTT	0.408													55	80	---	---	---	---					
KRTAP2-4	85294	broad.mit.edu	37	17	39221759	39221773	+	In_Frame_Del	DEL	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	rs349782	by1000genomes	TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	ENST00000394015.2	-	1	358_372	c.325_339delTGCCGGCCCCCCTGC	c.(325-339)tgccggcccccctgcdel	p.CRPPC109del		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	109	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC	0.660													4	9	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44879934	44879935	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:44879934_44879935insTT	ENST00000377967.4	+	6	564_565	c.523_524insTT	c.(523-525)cttfs	p.L175fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.L175fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.L175fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.L175fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	175					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACGACTTGGGCTTATGTTCAAA	0.347			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								139	19	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123220472	123220472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:123220472delT	ENST00000371160.1	+	30	3419	c.3129delT	c.(3127-3129)tctfs	p.S1043fs	STAG2_ENST00000354548.5_Frame_Shift_Del_p.S974fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.S1043fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.S1043fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.S1043fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.S1043fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1043					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CACTGATGTCTTACCGAAATT	0.428													53	6	---	---	---	---					
SOX3	6658	broad.mit.edu	37	X	139586345	139586347	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-GD-A6C6-01A-21D-A31L-08	TCGA-GD-A6C6-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cabe358-3251-4864-a485-29a42cc27457	fddc7668-32f1-405a-9b13-7e5e46716f81	g.chrX:139586345_139586347delGGC	ENST00000370536.2	-	1	878_880	c.879_881delGCC	c.(877-882)ccgccc>ccc	p.293_294PP>P		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	293	Poly-Pro.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					cggcagcgcgggcggcggcggcg	0.719													2	4	---	---	---	---